Category Archives: Articles

Update: Trigeminal schwannoma radiosurgery

Stereotactic radiosurgery (SRS) is an effective and minimally invasive management option for patients with residual or newly diagnosed trigeminal schwannomas. The use resulted in good tumor control and functional improvement 1).

Predictors of a better treatment response included female sex, smaller tumor volume, root or ganglion tumor type, and the application of SRS as the primary treatment 2).

Cranial neuropathies are bothersome complications of radiosurgery, and tumor expansion in a cavernous sinus after radiosurgery appears to be the proximate cause of the complication. Loss of central enhancement could be used as a warning sign of cranial neuropathies, and for this vigilant patient monitoring is required 3).

Larger studies with open-ended follow-up review will be necessary to determine the long-term results and complications of GKS in the treatment of trigeminal schwannomas 4).

It is a promising alternative to conventional microsurgery in cases of neurinomas of the trigeminal nerve including neurotrophic keratopathy, to keep or restore vision 5).

Case series

2013

The records of 52 patients who underwent stereotactic radiosurgery (SRS) for trigeminal schwannoma were reviewed using a retrospective study. The median patient age was 47.1 years (range, 18-77); 20 patients (38.5%) had undergone prior tumor resection and 32 (61.5%) underwent radiosurgery on the basis of imaging diagnosis only. The most frequent presenting symptoms were facial numbness (29 patients), jaw weakness (11 patients), facial pain (10 patients) and diplopia (4 patients). Fifty-two cases with solid tumors were mainly solid in 44 cases (84.6%), mostly cystic in 2 cases (3.8%), and cystic and solid mixed in 6 cases (11.5%). Two cases of mostly cystic tumor first underwent stereotactic cystic fluid aspiration and intracavitary irradiation, and then had MRI localization scan again for gamma knife treatment. The mean tumor volume was 7.2 ml (range, 0.5-38.2). The mean prescription radiation dose was 13.9 Gy (range, 11-17), and the mean prescription isodose configuration was 47.9%.

At a mean follow-up of 61 months (range, 12-156), neurological symptoms or signs improved in 35 patients (67.3%), 14 patients (26.9%) had a stable lesion, and worsening of the disease occurred in 2 patients (3.8%). On imaging, the schwannomas almost disappeared in 8 (15.4%), shrank in 32 (61.5%), remained stable in 5 (9.6%), and increased in size in 7 patients (13.5%). Tumor growth control was achieved in 45 (86.5%) of the 52 patients.

SRS is an effective and minimally invasive management option for patients with residual or newly diagnosed trigeminal schwannomas. The use of SRS to treat trigeminal schwannomas resulted in good tumor control and functional improvement 6).

2009

The records of 33 consecutive patients with trigeminal schwannoma treated via Gamma Knife surgery were retrospectively reviewed. The median patient age was 49.5 years (range 15.1-82.5 years). Eleven patients had undergone prior tumor resection. Two patients had neurofibromatosis Type 2. Lesions were classified as root type (6 tumors), ganglion type (17 tumors), and dumbbell type (10 tumors) based on their location. The median radiosurgery target volume was 4.2 cm3 (range 0.5-18.0 cm3), and the median dose to the tumor margin was 15.0 Gy (range 12-20 Gy).

At an average of 6 years (range 7.2-147.9 months), the rate of progression-free survival (PFS) at 1, 5, and 10 years after SRS was 97.0, 82.0, and 82.0%, respectively. Factors associated with improved PFS included female sex, smaller tumor volume, and a root or ganglion tumor type. Neurological symptoms or signs improved in 11 (33.3%) of 33 patients and were unchanged in 19 (57.6%). Three patients (9.1%) had symptomatic disease progression. Patients who had not undergone a prior tumor resection were significantly more likely to show improvement in neurological symptoms or signs.

Stereotactic radiosurgery is an effective and minimally invasive management option in patients with residual or newly diagnosed trigeminal schwannomas. Predictors of a better treatment response included female sex, smaller tumor volume, root or ganglion tumor type, and the application of SRS as the primary treatment 7).

2007

Phi et al. reviewed the clinical records and radiological data in 22 consecutive patients who received GKS for a trigeminal schwannoma. The median tumor volume was 4.1 ml (0.2-12.0 ml), and the mean tumor margin dose was 13.3 +/- 1.3 Gy at an isodose line of 49.9 +/- 0.6% (mean +/- standard deviation). The median clinical follow-up period was 46 months (range 24-89 months), and the median length of imaging follow-up was 37 months (range 24-79 months).

Tumor growth control was achieved in 21 (95%) of the 22 patients. Facial pain responded best to radiosurgery, with two thirds of patients showing improvement. However, only one third of patients with facial hypesthesia improved. Six patients (27%) experienced new or worsening cranial neuropathies after GKS. Ten patients (46%) showed tumor expansion after radiosurgery, and nine of these also showed central enhancement loss. Loss of central enhancement, tumor expansion, and a tumor in a cavernous sinus were found to be significantly related to the emergence of cranial neuropathies.

The use of GKS to treat trigeminal schwannoma resulted in a high rate of tumor control and functional improvement. Cranial neuropathies are bothersome complications of radiosurgery, and tumor expansion in a cavernous sinus after radiosurgery appears to be the proximate cause of the complication. Loss of central enhancement could be used as a warning sign of cranial neuropathies, and for this vigilant patient monitoring is required 8).


Twenty-six patients with trigeminal schwannomas underwent GKS at the University of Virginia Lars Leksell Gamma Knife Center between 1989 and 2005. Five of these patients had neurofibromatosis and one patient was lost to follow up. The median tumor volume was 3.96 cm(3), and the mean follow-up period was 48.5 months. The median prescription radiation dose was 15 Gy, and the median prescription isodose configuration was 50%. There was clinical improvement in 18 patients (72%), a stable lesion in four patients (16%), and worsening of the disease in three patients (12%). On imaging, the schwannomas shrank in 12 patients (48%), remained stable in 10 patients (40%), and increased in size in three patients (12%). These results were comparable for primary and adjuvant GKSs. No tumor growth following GKS was observed in the patients with neurofibromatosis.

Gamma Knife surgery affords a favorable risk-to-benefit profile for patients harboring trigeminal schwannomas. Larger studies with open-ended follow-up review will be necessary to determine the long-term results and complications of GKS in the treatment of trigeminal schwannomas 9).

2001

A patient developed severe corneal neovascularization within four weeks and the contact lens had to be removed. Three months later an MRI scan was performed, which showed an intracranial tumor originating from the first branch of the trigeminal nerve. Neurinoma of the trigeminal nerve was suspected, and this presumed diagnosis was confirmed by fine needle biopsy. The patient underwent radiosurgery seven weeks later. The epithelium closed, the cornea recovered and stayed stable until the last examination 18 months after radiosurgery.

Radiosurgery is a promising alternative to conventional microsurgery in cases of neurinomas of the trigeminal nerve including neurotrophic keratopathy, to keep or restore vision 10).

References

1) , 6)

Sun J, Zhang J, Yu X, Qi S, Du Y, Ni W, Hu Y, Tian Z. Stereotactic radiosurgery for trigeminal schwannoma: a clinical retrospective study in 52 cases. Stereotact Funct Neurosurg. 2013;91(4):236-42. doi: 10.1159/000345258. Epub 2013 Mar 26. PubMed PMID: 23548989.
2) , 7)

Kano H, Niranjan A, Kondziolka D, Flickinger JC, Dade Lunsford L. Stereotactic radiosurgery for trigeminal schwannoma: tumor control and functional preservation Clinical article. J Neurosurg. 2009 Mar;110(3):553-8. PubMed PMID: 19301456.
3) , 8)

Phi JH, Paek SH, Chung HT, Jeong SS, Park CK, Jung HW, Kim DG. Gamma Knife surgery and trigeminal schwannoma: is it possible to preserve cranial nerve function? J Neurosurg. 2007 Oct;107(4):727-32. PubMed PMID: 17937215.
4) , 9)

Sheehan J, Yen CP, Arkha Y, Schlesinger D, Steiner L. Gamma knife surgery for trigeminal schwannoma. J Neurosurg. 2007 May;106(5):839-45. PubMed PMID: 17542528.
5) , 10)

Ardjomand N, Can B, Schaffler G, Eustacchio S, Scarpatetti M, Pendl G. [Therapy of neurotrophic keratopathy in trigeminal schwannoma with radiosurgery]. Wien Klin Wochenschr. 2001 Aug 16;113(15-16):605-9. German. PubMed PMID: 11571839.

Update: Painful tic convulsif

Painful tic convulsif is a syndrome restricted to paroxysmal dysfunction of the fifth cranial nerve and seventh cranial nerves causing trigeminal neuralgia and hemifacial spasm together.

It occurs primarily in women over the age of 50 years and is usually associated with vertebrobasilar dolichoectasia and aneurysm 1).

Less frequently an arteriovenous malformation or cholesteatoma–which compresses the trigeminal and facial nerve roots in the posterior fossa. In rare instances this syndrome may be caused by disseminated sclerosis 2)

Diagnosis

Magnetic resonance imaging (MRI), due to its inherent excellent contrast resolution, is an excellent modality for demonstrating the nerve compression by dilated and tortuous vessels seen in this condition. For this purpose, 3D MRI sequences are especially useful like constructive interference in steady state (CISS) and MR angiography. Both of these have been reported to be helpful in the diagnosis of this condition 3).

Mittal et al. report a case of PTC in which they were able to document facial and trigeminal nerve compression by VBD on MRI, using CISS and Time of flight magnetic resonance angiography 4).


Ten (6.8%) out of 146 patients with trigeminal neuralgia (TN) who underwent SPGR-MRI and 3D-TOF-MRA from August 1993 to October 1996, were found to have vascular compression caused by a tortuous vertebrobasilar system (TVBS). They were mostly males, demonstrated left-sided predominance, and had ipsilateral hemifacial spasm, compared with other 52 patients whose offending arteries were either superior cerebellar artery (SCA), anterior inferior cerebellar artery (AICA)or posterior inferior cerebellar artery (PICA). The patients who showed vascular compression by TVBS, presented an artery which compresses and dislocates the rootentry zone (REZ) of the trigeminal nerve, presses the brain stem at REZ and simultaneously compresses the REZ of the facial nerve. In addition, the diameters of the two branches of vertebrobasilar artery were not equal. These features indicate that the atherosclerotic change of the offending artery in TN caused by TVBS is more severe than that caused by SCA, AICA or PICA. This change causes an irregular running of artery which leads a strong compression of the trigeminal nerve REZ and of the brain stem. Consequently, the facial nerve REZ is severely affected leading to the presence of tic convulsif in TN caused by TVBS 5).

Treatment

The standard modality of treatment is microvascular decompression, which has shown greater effectiveness and control of symptoms in the long-term. However medical treatment, which includes percutaneous infiltration of botulinum toxin, has produced similar results at medium-term in the control of each individual clinical manifestation, but it must be considered as an alternative in the choice of treatment 6).

Case series

2011

Nine consecutive cases of coexistent HFS and TN caused by neurovascular confliction in the same side were studied. Except for one, the patients suffered from HFS followed by ipsilateral TN. All patients underwent MVD and were followed up for 3 to 30 months. Each surgery was analyzed retrospectively.

Intraoperatively, a looped vertebral artery (VA) shifted to the suffered side was found in 8 patients. The VA was regarded as the direct or indirect offending artery. After MVDs, the spasm ceased immediately in 6 patients; the other 3 patients had delayed relief within 3 months. The pain disappeared immediately in 7 of 9 patients. One patient felt relief after a week, and 1 had pain but improved slightly. No recurrence or complication was found.

A shifted VA loop may account for this tic convulsif syndrome. MVD is a reasonable and effective therapy with a high cure rate for the disease. The key to the surgery is to move the VA proximally. The dissection should be performed rostrally starting from the caudal cranial nerves 7).

2009

Bilateral HFS and tic convulsif were encountered in 7 (0.4%) and 6 (0.37%) patients, respectively. Fifty-six (3.4%) patients were younger than 30 years old at the time of microvascular decompression.

HFS can result from tumor, vascular malformation, and dolichoectatic artery. Therefore, appropriate preoperative radiological investigations are crucial to achieve a correct diagnosis. The authors emphasize that distal compression or only venous compression can be responsible for persistent or recurrent symptoms postoperatively. In cases of bilateral HFS, a definite differential diagnosis is necessary for appropriate therapy. MVD is recommended as the treatment of choice in patients younger than 30 years old or patients with painful tic convulsif 8).

2006

Boscá-Blasco et al. report the cases of four patients with combined TN and HFS out of a total of 247 patients with HFS who were treated with botulinum toxin. One patient had TN that was contralateral to the HFS, while the other three were ipsilateral, and one of these had bilateral HFS. In all four cases both the HFS and the TN improved with botulinum toxin treatment.

These four patients with TN and HFS suggest a common aetiology for the two disorders, due either to central neuronal hyperactivity or to vascular compression of several cranial nerves. The beneficial effect of botulinum toxin in both disorders supports the idea of this toxin having a central mechanism of action that acts by controlling neuronal hyperactivity in the brain stem, as well as its peripheral action 9).

1984

Since Cushing’s 1920 description of this syndrome in three patients, 37 additional cases have been reported in the world literature. Of the 15 with adequate operative descriptions, 10 had vascular abnormalities and five had tumors. The authors report 11 cases of tic convulsif treated by microvascular decompression of both the fifth and seventh cranial nerves. At operation, 21 of 22 nerves were found to have root entry zone vascular compression. One trigeminal nerve was considered normal. One seventh nerve had a tumor displacing the anterior inferior cerebellar artery into its root entry zone. The average follow-up period in this series was 6 years 2 months (range 1 to 8 1/2 years). Eight patients (73%) were pain-free, two (18%) had frank recurrences, and one (9%) had mild discomfort. Eight patients (73%) were totally free of facial spasm, and two others (18%) had only a trace of residual spasm. These results are comparable to those achieved by treating the individual syndromes with microvascular decompression. Therefore, microvascular decompression of both the fifth and seventh cranial nerves is recommended as the treatment of choice in tic convulsif 10).

Case reports

2017

Fenech et al. describe a unique presentation of bilateral PTC in a man with bilateral hemifacial spasm and trigeminal neuralgia secondary to neurovascular conflict of all four cranial nerves. Following failed medical and radiofrequency therapy, microvascular decompression of three of the four involved nerves was performed, where the offending vessels were mobilised and Teflon used to prevent conflict recurrence. He continues to respond to Botox for right hemifacial spasm. Since surgery, he remains pain free bilaterally and spasm free on the left 11).

2014

Rare case of cerebello-pontine angle meningioma causing painful tic convulsif 12).

2013

Jiao et al. report a case of a 77-year-old woman with coexistent trigeminal neuralgia and hemifacial spasm who had experienced Bell palsy half a year ago. The patient underwent microvascular decompression. Intraoperatively, the vertebrobasilar artery was found to deviate to the symptomatic side and a severe adhesion was observed in the cerebellopontine angle. Meanwhile, an ectatic anterior inferior cerebellar artery and 2 branches of the superior cerebellar artery were identified to compress the caudal root entry zone (REZ) of the VII nerve and the rostroventral cisternal portion of the V nerve, respectively. Postoperatively, the symptoms of spasm ceased immediately and the pain disappeared within 3 months. In this article, the pathogenesis of the patient’s illness was discussed and it was assumed that the adhesions developed from inflammatory reactions after Bell palsy and the anatomic features of the patient were the factors that generated the disorder. Microvascular decompression surgery is the suggested treatment of the disease, and the dissection should be started from the caudal cranial nerves while performing the operation 13).

2012

Verghese et al. report an Posterior fossa arachnoid cyst that caused PTC in a 50-year-old woman. Her radiological evaluation revealed a median, well-circumscribed, cystic lesion of the posterior fossa suggestive of arachnoid cyst, pushing the cerebellum and brainstem anteriorly. Midline suboccipital craniotomy and marsupialization of cyst was performed with complete recovery of symptoms. This is the first report of a retrocerebellar arachnoid cyst causing PTC 14).


Painful tic convulsif caused by an arteriovenous malformation 15).

2011

Giglia et al. present the case of a 50-year-old man suffering from “painful tic convulsif”, on the left side of the face, i.e., left trigeminal neuralgia associated with ipsilateral hemifacial spasm. An angio-MRI scan showed a neurovascular confliction of left superior cerebellar artery with the ipsilateral V cranial nerve and of the left inferior cerebellar artery with the ipsilateral VII cranial nerve. Neurophysiological evaluation through esteroceptive blink reflex showed the involvement of left facial nerve. An initial carbamazepine treatment (800 mg/daily) was completely ineffective, so the patient was shifted to lamotrigine 50 b.i.d. that was able to reduce attacks from 4 to 6 times per day to 1 to 2 per week. Considering the good response to the drug, the neurosurgeon decided to delay surgical treatment 16).

2009

A 67-year-old woman who presented with a typical left hemifacial spasm of 8-month duration. After 2 months, she experienced lacinating and sharp shock-like pain in the left side of her face affecting the V1 and V2 territories and a discrete attenuation of nauseous reflex on the left side. CT angiography and MRI revealed significant compression of left cranial nerves V, VII, VIII, IX and X by a giant and tortuous vertebro-basilar arterial complex. This case illustrates the nonlinearity of the relationship between the presence of the stressor factor and the actual manifestation of the disease 17).

2007

A case of right-sided HFS after which left TN developed, which is an unusual form of PTC. Both disorders were caused by bilateral vascular compression of the cranial nerves and successfully treated with botulinum toxin and carbamazepine. As PTC is benign in nature and can be treated with botulinum toxin, neuroradiological investigations should be performed for an accurate aetiological diagnosis, particularly in young patients with atypical disease manifestations 18).


Bilateral hemifacial spasm and trigeminal neuralgia: a unique form of painful tic convulsif 19).

2004

A 80-year-old woman had a 10-year history of left trigeminal neuralgia and ipsilateral hemifacial spasm. She presented with intermittent left facial twitching and pain, especially upon swallowing. MRI revealed compression of the left trigeminal nerve by the left anterior inferior cerebellar artery and of the ipsilateral facial nerve by the posterior inferior cerebellar artery. Microvascular decompression of the lesions via left lateral suboccipital craniotomy resulted in immediate and complete symptom improvement. The case demonstrates that different arteries can affect the trigeminal and facial nerve at a stage that precedes compression by a tortuous vertebrobasilar artery. They suggest that the presence of PTC should be considered in patients with a tortuous vertebrobasilar artery, irrespective of the offending arteries 20).

2002

A 70-year-old man with hemifacial spasm associated to trigeminal neuralgia secondary to an ectatic basilar artery. He was treated with botulinum toxin type A, 2.5 mouse units over five sites at the orbicularis oculi and one over the buccinator muscle. After botulinum toxin injections, relief was gained not only from twitching but also from pain. When the effects of the toxin vanished, spasms and pain recurred. Further infiltrations were given every 12 weeks following the same response pattern. This observation further validates the increasing role of botulinum toxin in pain management21).

2001

A case is presented of painful tic convulsif caused by schwannoma in the cerebellopontine angle (CPA), with right trigeminal neuralgia and ipsilateral hemifacial spasm. Magnetic resonance images showed a 4 cm round mass displacing the 4th ventricle and distorting the brain stem in the right CPA. The schwannoma, which compressed the fifth and seventh cranial nerves directly, was subtotally removed by a suboccipital craniectomy. Postoperatively, the patient had a complete relief from the hemifacial spasm and marked improvement from trigeminal neuralgia. The painful tic convulsif in this case was probably produced by the tumor compressing and displacing the anterior cerebellar artery directly 22).

1995

A case of painful tic convulsif (trigeminal neuralgia and ipsilateral hemifacial spasm) caused by cerebellopontine angle epidermoid tumor is presented. This tumor was compressed to the trigeminal nerve, and became attached to the facial and auditory nerves. The facial nerve exit-zone of brain stem was also compressed by the tumor along with a branch of the posterior inferior cerebellar artery. Total removal of the tumor was carried out and neuralgia and facial spasm disappeared. Painful tic convulsif caused by brain tumor is rare (eight cases in the literature plus our case), but epidermoid tumor is not rare as a cause of this complaint (seven in eight cases). In preoperative examination of this case, we could not detect this epidermoid in the cerebellopontine angle, because this tumor was the same intensity as CSF liquid on magnetic resonance imaging (T1 and T2 weighted image) and exerting hardly any mass effect on the brainstem. On encountering a case of painful tic convulsif of unknown origin despite the usual preoperative examinations, it may be useful that same kind of brain tumor, especially, epidermoid might be concealed in the cerebellopontine angle lesion 23).


A case is presented of painful tic convulsif caused by a posterior fossa meningioma, with right trigeminal neuralgia and ipsilateral hemifacial spasm. Magnetic resonance images showed an ectatic right vertebral artery as a signal-void area in the right cerebellopontine angle. At operation the tentorial meningioma, which did not compress either the fifth or the seventh cranial nerves directly, was totally removed via a suboccipital craniectomy. The patient had complete postoperative relief from the trigeminal neuralgia and her hemifacial spasm improved markedly with decreased frequency. From a pathophysiological standpoint, the painful tic convulsif in this case was probably produced by the tumor compressing and displacing the brainstem directly, with secondary neurovascular compression of the fifth and seventh nerves (the so-called “remote effect”) 24).


Painful tic convulsif caused by a brain tumor undiagnosed preoperatively 25).

1992

Patient with painful tic convulsif caused by a brain tumor. The patient was admitted with right trigeminal neuralgia and ipsilateral facial spasm, i.e., painful tic convulsif. Preoperative computed tomography scans showed no apparent abnormalities; however, surgery revealed that these symptoms were associated with a pearly tumor located in the cerebellopontine angle. Subtotal resection for the decompression of the right trigeminal and facial nerves was performed and resulted in complete relief of the symptoms. Histological examination demonstrated the tumor to be an epidermoid cyst 26).

1991

A 77-year-old woman had developed trigeminal neuralgia 12 years before admission and ipsilateral facial spasm 2 years before admission. Upon operation, the superior cerebellar artery was found to impinge upon the entry zone of the fifth nerve. In addition, the anterior inferior and posterior inferior cerebellar arteries were found to bend along the seventh nerve. Teflon sheets were placed between the nerves and offending arteries. She has been pain-free and spasm-free for the past 18 months. Pathomechanism of the association of the multiple compression syndromes and the treatment are discussed 27).


The case of trigeminal neuralgia and ipsilateral hemifacial spasm–painful tic convulsif–is presented. Microsurgical exploration revealed compression of the fifth and seventh cranial nerves by a tortuous contralateral vertebral artery. Neurovascular decompression of the roots entry/exit zone completely relieved preoperative facial pain and spasm 28).

1989

A case of epidermoid tumor presenting with a painful tic convulsif was reported. A 35-year old male with trigeminal neuralgia and ipsilateral hemifacial spasm was diagnosed as having an epidermoid by CT and metrizamide CT cisternography and the symptoms were completely eliminated after the operation. In this case, metrizamide CT cisternography was very useful for preoperative diagnosis by demonstrating the characteristic findings of the epidermoid. It should be taken into consideration that there are some cases with trigeminal neuralgia and/or hemifacial spasm whose symptoms are due to brain tumors 29).

1984

A patient had combined otalgia and intractable unilateral facial spasm, relieved by microsurgical vascular decompression of the seventh and eighth cranial nerve complex in the cerebellopontine angle without section of the intermediate nerve. A dolicho-ectatic anterior inferior cerebellar artery compressed the seventh and eighth cranial nerves complex, suggesting that vascular compression of the intermediate nerve or of the sensory portion of the facial nerve may cause geniculate neuralgia. “Tic convulsif” seems to be a combination of geniculate neuralgia and hemifacial spasm. This combination could be due to vascular compression of the sensory and motor components of the facial nerve at their junction with the brainstem 30).

1983

A 49-year-old man with an epidermoid tumor had a hemifacial spasm on the left and ipsilateral trigeminal neuralgia–i.e., painful tic convulsif. Computed tomography scanning after metrizamide enhancement clearly demonstrated a cerebellopontine angle tumor. In the year since complete removal of the epidermoid tumor, the patient has been relieved of the facial pain and the hemifacial spasm is improved with decreased frequency of the spasm 31).

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Micheli F, Scorticati MC, Raina G. Beneficial effects of botulinum toxin type a for patients with painful tic convulsif. Clin Neuropharmacol. 2002 Sep-Oct;25(5):260-2. PubMed PMID: 12410057.
22)

Pyen JS, Whang K, Hu C, Hong SK, Lee MS, Lee JY, Hong SW. Tic convulsif caused by cerebellopontine angle schwannoma. Yonsei Med J. 2001 Apr;42(2):255-7. Retraction in: Yonsei Med J. 2008 Dec 31;49(6):1060. PubMed PMID: 11371116.
23)

Shinoda S, Kusama R, Chou H, Mori S, Masuzawa T. [A case of painful tic convulsif due to cerebellopontine angle epidermoid tumor which could not be clearly detected by MRI]. No Shinkei Geka. 1995 Jul;23(7):599-602. Japanese. PubMed PMID: 7637842.
24)

Ogasawara H, Oki S, Kohno H, Hibino S, Ito Y. Tentorial meningioma and painful tic convulsif. Case report. J Neurosurg. 1995 May;82(5):895-7. Review. PubMed PMID: 7714618.
25)

Ikeno S, Mitsuhata H, Furuya K, Shimizu R. Painful tic convulsif caused by a brain tumor undiagnosed preoperatively. Anesthesiology. 1995 Sep;83(3):643-4. PubMed PMID: 7661373.
26)

Iwasaki K, Kondo A, Otsuka S, Hasegawa K, Ohbayashi T. Painful tic convulsif caused by a brain tumor: case report and review of the literature. Neurosurgery. 1992 Jun;30(6):916-9. Review. PubMed PMID: 1614596.
27)

Tsuyumu M, Kohmo Y. Painful tic convulsif: case report. Surg Neurol. 1991 Oct;36(4):310-3. Review. PubMed PMID: 1948633.
28)

Grigoryan YA, Dreval ON, Michailova SI. Painful tic convulsif caused by a contralateral vertebral artery. Surg Neurol. 1991 Jun;35(6):471-4. PubMed PMID: 2053061.
29)

Otsuka S, Nakatsu S, Matsumoto S, Sato S, Motozaki T, Ban S, Yamamoto T, Shirane H. Epidermoid tumor presenting with trigeminal neuralgia and ipsilateral hemifacial spasm: a case report. Nihon Geka Hokan. 1989 Mar 1;58(2):245-9. Review. PubMed PMID: 2679480.
30)

Yeh HS, Tew JM Jr. Tic convulsif, the combination of geniculate neuralgia and hemifacial spasm relieved by vascular decompression. Neurology. 1984 May;34(5):682-3. PubMed PMID: 6538661.
31)

Wakabayashi T, Tamaki N, Satoh H, Matsumoto S. Epidermoid tumor presenting as painful tic convulsif. Surg Neurol. 1983 Mar;19(3):244-6. PubMed PMID: 6836475.

Update: Epidermal growth factor receptor

The epidermal growth factor receptor is a member of the ErbB family of receptors, a subfamily of four closely related receptor tyrosine kinases: EGFR (ErbB-1), HER2/c-neu (ErbB-2), Her 3 (ErbB-3) and Her 4 (ErbB-4). Mutations affecting EGFR expression or activity could result in cancer.

Epidermal growth factor and its receptor was discovered by Stanley Cohen of Vanderbilt University. Cohen shared the 1986 Nobel Prize in Medicine with Rita Levi-Montalcini for their discovery of growth factors.


The receptor for epidermal growth factor (EGFR) is a prime target for cancer therapy across a broad variety of tumor types. As it is a tyrosine kinase, small molecule tyrosine kinase inhibitors (TKIs) targeting signal transduction, as well as monoclonal antibody against the EGFR, have been investigated as anti-tumor agents. However, despite the long-known enigmatic EGFR gene amplification and protein overexpression in glioblastoma, the most aggressive intrinsic human brain tumor, the potential of EGFR as a target for this tumor type has been unfulfilled 1).

This is in sharp contrast with the observations in EGFR-mutant lung cancer.


The epidermal growth factor receptor (EGFR; ErbB-1; HER1 in humans) is the cell-surface receptor for members of the epidermal growth factor family (EGF-family) of extracellular protein ligands.

Overexpression of epidermal growth factor receptor (EGFR) in glioblastoma multiforme (GBM) secondary to EGFR gene amplification is associated with a more aggressive tumor phenotype and a worse clinical outcome.


Epidermal growth factor receptor (EGFR), pMAPK, 4E-BP1, p4E-BP1, pS6, eIF4E, and peIF4E expression levels were evaluated using immunohistochemistry. Expression levels were semiquantitatively evaluated using a histoscore. Immunohistochemistry and PCR were used for IDH1 mutations. Statistical analysis was based on the following tests: chi-square, Student’s t, Pearson correlation, Spearman’s rho, and Mann-Whitney; ROC and Kaplan-Meier curves were constructed. A significant increase was observed between grades for expression of total and phosphorylated 4E-BP1 and for eIF4E, Ki67, EGFR, and cyclin D1. Although expression of EGFR, eIF4E, and Ki67 correlated with survival, only peIF4E was an independent predictor of survival in the multivariate analysis. Combining the evaluation of different proteins enables us to generate helpful diagnostic nomograms. In conclusion, cell signaling pathways are activated in DIAs; peIF4E is an independent prognostic factor and a promising therapeutic target. Joint analysis of the expression of 4E-BP1 and peIF4E could be helpful in the diagnosis of glioblastoma multiforme in small biopsy samples 2).


Ren et al., analyzed the microarray and proteomics profiles of tumor tissues from glioblastoma patients (N = 180), and identified potential RNA regulators of the Kininogen 1 (KNG1). Validation experiments in U87 glioblastoma cells showed that the regulation of KNG1 by CTU1, KIAA1274, and RAX was mediated by miR 138. The siRNA-mediated knockdown of CTU1, KIAA1274, or RAX in U87 cells and immortalized human endothelial cells (iHECs) significantly reduced KNG1 expression (P < 0.05 for all), which resulted in the upregulation of oncogenic EGFR signaling in both cell lines, and stimulated angiogenic processes in cultured iHECs and zebrafish and mouse xenograft models of glioblastoma-induced angiogenesis. Angiogenic transduction of iHECs occurred via the uptake of U87-derived exosomes enriched in miR-138, with the siRNA-mediated knockdown of KNG1, CTU1, KIAA1274, or RAX increasing the level of miR-138 enrichment to varying extents and enhancing the angiogenic effects of the U87-derived exosomes on iHECs. The competing endogenous RNA network of KNG1 represents potential targets for the development of novel therapeutic strategies for glioblastoma 3).

EGFRvIII

Fluorophore/nanoparticle labeled with anti-EGFR antibodies

Senders et al., systematically review all clinically tested fluorescent agents for application in fluorescence guided surgery (FGS) for glioma and all preclinically tested agents with the potential for FGS for glioma.

They searched the PubMed and Embase databases for all potentially relevant studies through March 2016.

They assessed fluorescent agents by the following outcomes: rate of gross total resection (GTR), overall and progression free survival, sensitivity and specificity in discriminating tumor and healthy brain tissue, tumor-to-normal ratio of fluorescent signal, and incidence of adverse events.

The search strategy resulted in 2155 articles that were screened by titles and abstracts. After full-text screening, 105 articles fulfilled the inclusion criteria evaluating the following fluorescent agents: 5 aminolevulinic acid (5-ALA) (44 studies, including three randomized control trials), fluorescein (11), indocyanine green (five), hypericin (two), 5-aminofluorescein-human serum albumin (one), endogenous fluorophores (nine) and fluorescent agents in a pre-clinical testing phase (30). Three meta-analyses were also identified.

5-ALA is the only fluorescent agent that has been tested in a randomized controlled trial and results in an improvement of GTR and progression-free survival in high-grade gliomas. Observational cohort studies and case series suggest similar outcomes for FGS using fluorescein. Molecular targeting agents (e.g., fluorophore/nanoparticle labeled with anti-EGFR antibodies) are still in the pre-clinical phase, but offer promising results and may be valuable future alternatives. 4).

References

1)

Westphal M, Maire CL, Lamszus K. EGFR as a Target for Glioblastoma Treatment: An Unfulfilled Promise. CNS Drugs. 2017 Aug 8. doi: 10.1007/s40263-017-0456-6. [Epub ahead of print] PubMed PMID: 28791656.
2)

Martínez-Sáez E, Peg V, Ortega-Aznar A, Martínez-Ricarte F, Camacho J, Hernández-Losa J, Ferreres Piñas JC, Ramón Y Cajal S. peIF4E as an independent prognostic factor and a potential therapeutic target in diffuse infiltrating astrocytomas. Cancer Med. 2016 Jul 20. doi: 10.1002/cam4.817. [Epub ahead of print] PubMed PMID: 27440383.
3)

Ren Y, Ji N, Kang X, Wang R, Ma W, Hu Z, Liu X, Wang Y. Aberrant ceRNA-mediated regulation of KNG1 contributes to glioblastoma-induced angiogenesis. Oncotarget. 2016 Oct 14. doi: 10.18632/oncotarget.12659. PubMed PMID: 27764797.
4)

Senders JT, Muskens IS, Schnoor R, Karhade AV, Cote DJ, Smith TR, Broekman ML. Agents for fluorescence-guided glioma surgery: a systematic review of preclinical and clinical results. Acta Neurochir (Wien). 2017 Jan;159(1):151-167. doi: 10.1007/s00701-016-3028-5. Review. PubMed PMID: 27878374; PubMed Central PMCID: PMC5177668.

Update: Bing Neel syndrome

Bing Neel syndrome is a rare disease manifestation of Waldenstrom macroglobulinemia that results from infiltration of the central nervous system by malignant lymphoplasmacytic cells 1).

This infiltration increases blood viscosity, which impairs blood circulation through small blood vessels of the brain and the eye. Some scientists proposed that a person diagnosed with BNS is typically classified into Group A and Group B depending on whether or not plasma cells are present within the brain parenchymaleptomeninges, dura, and/or the cerebrospinal fluid (CSF).

Epidemiology

Bing–Neel syndrome (BNS) is an extremely rare neurologic complication of WM.

Clinical features

The presentation of Bing Neel syndrome may be very diverse, and includes headaches, cognitive deficits, paresis, and psychiatric symptoms. The syndrome can present in patients with known Waldenström’s macroglobulinemia, even in the absence of systemic progression, but also in previously undiagnosed patients 2).

Diagnosis

The diagnostic approach should be based on cerebrospinal fluid analysis and brain magnetic resonance imaging and Spinal magnetic resonance imaging 3).

Cerebral spinal fluid analysis with multiparameter flow cytometry to establish B cell clonality, serum protein electrophoresis and immunofixation for the detection and classification of a monoclonal protein as well as molecular diagnostic testing for immunoglobulin gene rearrangement and mutated MYD88 4).

Treatment

It still remains difficult to establish treatment recommendations or prognostic factors in the absence of large-scale, prospective, observational studies 5).

Prospective clinical trials on Bing Neel syndrome patients that employ uniform treatment along with appropriate laboratory cerebral spinal fluid assessments and standardized MRI protocols will be invaluable, constituting a significant step forward in delineating treatment outcome for this intriguing disease manifestation 6).

Case series

2015

Simon et al. retrospectively analyzed 44 French patients with Bing-Neel syndrome. Bing-Neel syndrome was the first manifestation of Waldenström macroglobulinemia in 36% of patients. When Waldenström macroglobulinemia was diagnosed prior to Bing-Neel syndrome, the median time interval between this diagnosis and the onset of Bing-Neel syndrome was 8.9 years. This study highlights the possibility of the occurrence of Bing-Neel syndrome without any other evidence of progression of Waldenström macroglobulinemia. The clinical presentation was heterogeneous without any specific signs or symptoms. Biologically, the median lymphocyte count in the cerebrospinal fluid was 31/mm(3). Magnetic resonance imaging revealed abnormalities in 78% of the cases. The overall response rate after first-line treatment was 70%, and the overall survival rate after the diagnosis of Bing-Neel syndrome was 71% at 5 years. Altogether, these results suggest that Bing-Neel syndrome should be considered in the context of any unexplained neurological symptoms associated with Waldenström macroglobulinemia. The diagnostic approach should be based on cerebrospinal fluid analysis and magnetic resonance imaging of the brain and spinal axis. It still remains difficult to establish treatment recommendations or prognostic factors in the absence of large-scale, prospective, observational studies 7).

Case reports

2017

A 68-year-old male with right eye vision loss secondary to a compressive optic neuropathy from Waldenstrom macroglobulinaemia relapse in both cavernous sinuses. Central nervous system involvement is extremely uncommon in lymphoplasmacytic lymphoma. Known as Bing-Neel syndrome, this has not been previously reported to present simultaneously in bilateral cavernous sinuses. We discuss the pathophysiology, diagnostic and neuroradiological features of Bing-Neel syndrome. In this case, there was marked clinical and radiological response to chemotherapy. As outcomes following treatment for Waldenstrom macroglobulinaemia improve, greater awareness of its less common manifestations becomes important. Neurosurgical intervention may be indicated to obtain histological diagnosis or decompress critical structures 8).


Waldenstrom macroglobulinemia presenting as a bilateral subdural chronic hematoma 9).

2016

Intracranial venous sinus thrombosis as unusual presentation of Bing-Neel syndrome: case illustration 10).

2014

A case of Bing-Neel syndrome presenting as spinal cord compression 11).

2013

Tumoral Bing-Neel Syndrome presenting as a cerebellar mass 12).

2002

A 72-year-old man with Waldenstrom’s macroglobulinemia and central nervous system infiltration by malignant cells with tumor formation 13).

1995

A 68-year-old female presented with Waldenstrom’s macroglobulinemia with infiltration into the cerebral parenchyma manifesting as increased confusion, memory loss, and disorientation. She had a past history of Waldenstrom’s macroglobulinemia treated 3 years before. Magnetic resonance imaging showed a high intensity area on T2-weighted images in the left frontal lobe extending to the corpus callosum which was well enhanced by gadolinium-diethylenetriaminepenta-acetic acid. Direct infiltration of neoplastic cells was confirmed by biopsy. Immunohistochemical examination showed that mature plasmacytoid cells in the cerebral parenchyma were immunoglobulin M and lambda light chain antigen positive, but immature lymphocytes in Virchow-Robin space were negative. Monoclonal proliferation was confirmed by southern blot analysis. She became symptom free and the size of the lesion was dramatically reduced after 40 Gy irradiation. She showed no evidence of recurrence 3 years after irradiation. As no effective chemotherapy regimen for Bing-Neel syndrome has been established, irradiation is worth considering when neuroimaging suggests intracranial infiltration of neoplastic cells 14).

References

1) , 2) , 4) , 6)

Minnema MC, Kimby E, D’Sa S, Fornecker LM, Poulain S, Snijders TJ, Kastritis E, Kremer S, Fitsiori A, Simon L, Davi F, Lunn M, Castillo JJ, Patterson CJ, Le Garff-Tavernier M, Costopoulos M, Leblond V, Kersten MJ, Dimopoulos MA, Treon SP. Guideline for the diagnosis, treatment and response criteria for Bing-Neel syndrome. Haematologica. 2017 Jan;102(1):43-51. doi: 10.3324/haematol.2016.147728. Epub 2016 Oct 6. PubMed PMID: 27758817; PubMed Central PMCID: PMC5210231.

3) , 5) , 7)

Simon L, Fitsiori A, Lemal R, Dupuis J, Carpentier B, Boudin L, Corby A, Aurran-Schleinitz T, Gastaud L, Talbot A, Leprêtre S, Mahe B, Payet C, Soussain C, Bonnet C, Vincent L, Lissandre S, Herbrecht R, Kremer S, Leblond V, Fornecker LM. Bing-Neel syndrome, a rare complication of Waldenström macroglobulinemia: analysis of 44 cases and review of the literature. A study on behalf of the French Innovative Leukemia Organization (FILO). Haematologica. 2015 Dec;100(12):1587-94. doi: 10.3324/haematol.2015.133744. Epub 2015 Sep 18. Review. PubMed PMID: 26385211; PubMed Central PMCID: PMC4666335.

8) , 12)

Pham C, Griffiths JD, Kam A, Hunn MK. Bing-Neel syndrome – Bilateral cavernous sinus lymphoma causing visual failure. J Clin Neurosci. 2017 Jul 29. pii: S0967-5868(16)31423-0. doi: 10.1016/j.jocn.2017.07.010. [Epub ahead of print] PubMed PMID: 28765059.

9)

Franzini A, Gribaudi G, Pirola E, Pluderi M, Goldaniga MC, Marfia G, Rampini PM. Waldenstrom macroglobulinemia presenting as a bilateral subdural chronic hematoma. J Clin Neurosci. 2017 Jun;40:89-91. doi: 10.1016/j.jocn.2017.02.032. Epub 2017 Mar 2. PubMed PMID: 28262409.

10)

Morabito R, Grasso G, Barresi V, La Spina P, Garufi G, Alafaci E, Salpietro FM, Longo M, Granata F, Alafaci C. Intracranial venous sinus thrombosis as unusual presentation of Bing-Neel syndrome: case illustration. J Neurosurg. 2016 Dec 2:1-2. doi: 10.3171/2016.9.JNS161678. [Epub ahead of print] PubMed PMID: 27911232.

11)

Rigamonti A, Lauria G, Melzi P, Mantero V, Vismara D, Rossi G, Tetto A, Salmaggi A. A case of Bing-Neel syndrome presenting as spinal cord compression. J Neurol Sci. 2014 Nov 15;346(1-2):345-7. doi: 10.1016/j.jns.2014.08.029. Epub 2014 Aug 28. PubMed PMID: 25201716.

13)

Delgado J, Canales MA, Garcia B, Alvarez-Ferreira J, Garcia-Grande A, Hernandez-Navarro F. Radiation therapy and combination of cladribine, cyclophosphamide, and prednisone as treatment of Bing-Neel syndrome: Case report and review of the literature. Am J Hematol. 2002 Feb;69(2):127-31. Review. PubMed PMID: 11835349.

14)

Imai F, Fujisawa K, Kiya N, Ninomiya T, Ogura Y, Mizoguchi Y, Sano H, Kanno T. Intracerebral infiltration by monoclonal plasmacytoid cells in Waldenstrom’s macroglobulinemia–case report. Neurol Med Chir (Tokyo). 1995 Aug;35(8):575-9. PubMed PMID: 7566387.

Update: Temporalis muscle

Temporalis muscle

The temporal muscle, also known as the temporalis, is one of the muscles of mastication. It is a broad, fan-shaped muscle on each side of the head that fills the temporal fossa, superior to the zygomatic arch so it covers much of the temporal bone.

The skin flap is reflected forward to the level of the external auditory canal. The temporal muscle and the sternocleidomastoid muscles are exposed.

EAC: External auditory canal; ECM: Sternocleidomastoid muscle;TF: Temporal fascia.

When Gazi Yasargil first described standard techniques and procedures for pterional craniotomy (PC) in his publication in 1984, subgaleal dissection was used for separation and mobilization of the temporalis muscle. Because subgaleal dissection of the temporalis muscle bears significant risk of injury to the frontal branches of the facial nerve, various surgical techniques have been adopted such as interfascial and subfascial dissection. However, interfascial dissection is somewhat complex and time-consuming, and, because the facial nerve sometimes courses into the interfascial space, it still cannot eliminate the risk of facial nerve injury. Subfascial dissection is also time-consuming, and may result in injury to muscle fibers and intramuscular bleeding. These two techniques require transection of the temporalis muscle to leave a cuff for closure, which causes functional and cosmetic problems by muscle fibrosis and atrophy.

In neurosurgical procedures, avoiding damage of surrounding tissues such as muscle and periosteum during a craniotomy is important for esthetic and other reasons.

Matano et al. devised a protection tool using an amputated syringe barrel to cover the perforating drill and protect temporal muscle damage. This device made it possible to prevent damage to surrounding tissues, such as the muscle and periosteum, during cranial perforation. This method could be useful as it is cost-effective, simple, and versatile 1).


Effect of reflection of temporalis muscle has not been systematically researched. Thirty-nine patients were enrolled to assess the effect of reflection of temporalis muscle during cranioplasty CP after STC. Cranial index of symmetry was adopted to evaluate the aesthetic results, transcranial Doppler was used to assess change of cerebral blood flow (CBF), functional independence measurements were performed to monitor the improvement of neuronal function, and complications associated with CP were also recorded. The results displayed that reflection of temporalis muscle or not had no effect on the anesthetic results. Both operation ways could improve CBF and neuronal function. Cranioplasty with reflection of temporalis muscle could improve CBF and neuronal function more significantly. Furthermore, reflection of temporalis muscle would not increase complications associated with CP. Reflection of temporalis muscle during CP with titanium mesh after STC proves to be an effective and safe operation way 2).


Pterional craniotomy (PC) using myocutaneous (MC) flap is a simple and efficient technique; however, due to subsequent inferior displacement (ID) of the temporalis muscle, it can cause postoperative deformities of the muscle such as depression along the inferior margin of the temporal line of the frontal bone (DTL) and muscular protrusion at the inferior portion of the temporal fossa (PITF). Herein, we introduce a simple method for reconstruction of the temporalis muscle using a contourable strut plate (CSP) and evaluate its efficacy. Patients at follow-ups between January 2014 and October 2014 after PCs were enrolled in this study. Their postoperative deformities of the temporalis muscle including ID, DTL, and PITF were evaluated. These PC cases using MC flap were classified according to two groups; one with conventional technique without CSP (MC Only) and another with reconstruction of the temporalis muscle using CSP (MC + CSP). Statistical analyses were performed for comparison between the two groups.  Lower incidences of ID of the muscle (p < 0.001), DTL (p < 0.001), and PITF (p = 0.001) were observed in the MC + CSP than in the MC Only group. The incidence of acceptable outcome was markedly higher in the MC + CSP group (p < 0.001). ID was regarded as a causative factor for DTL and PITF (p < 0.001 in both). Reconstruction of the temporalis muscle using CSP after MC flap is a simple and efficient technique, which provides an outstanding outcome in terms of anatomical restoration of the temporalis muscle 3).


The minipterional craniotomy (MPT) provides a reliable and less invasive alternative to the standard pterional craniotomy. Furthermore, ruptured and unruptured anterior circulation aneurysms can safely and effectively be treated with limited bone removal which provides better cosmetic outcomes and excellent postoperative temporalis muscle function 4).

1)

Matano F, Mizunari T, Koketsu K, Fujiki Y, Kubota A, Kobayashi S, Murai Y, Morita A. Protection device made of amputated syringe for muscle protection during cranial perforation: a technical note. World Neurosurg. 2016 Jan 7. pii: S1878-8750(16)00002-4. doi: 10.1016/j.wneu.2016.01.001. [Epub ahead of print] PubMed PMID: 26773982.

2)

Jin Y, Jiang J, Zhang X. Effect of Reflection of Temporalis Muscle During Cranioplasty With Titanium Mesh After Standard Trauma Craniectomy. J Craniofac Surg. 2016 Jan;27(1):145-9. doi: 10.1097/SCS.0000000000002336. PubMed PMID: 26674916.

3)

Park JH, Lee YS, Suh SJ, Lee JH, Ryu KY, Kang DG. A Simple Method for Reconstruction of the Temporalis Muscle Using Contourable Strut Plate after Pterional Craniotomy: Introduction of the Surgical Techniques and Analysis of Its Efficacy. J Cerebrovasc Endovasc Neurosurg. 2015 Jun;17(2):93-100. doi: 10.7461/jcen.2015.17.2.93. Epub 2015 Jun 30. PubMed PMID: 26157688; PubMed Central PMCID: PMC4495087.

4)

Alkhalili KA, Hannallah JR, Alshyal GH, Nageeb MM, Abdel Aziz KM. The minipterional approach for ruptured and unruptured anterior circulation aneurysms: Our initial experience. Asian J Neurosurg. 2017 Jul-Sep;12(3):466-474. doi: 10.4103/1793-5482.180951. PubMed PMID: 28761525; PubMed Central PMCID: PMC5532932.

Update: A1 segment hypoplasia

Anterior cerebral artery A1 segment hypoplasia is an uncommon fetal variant of the circle of Willis.

There is an association of unilaterally absent or hypoplastic A1 segments of the anterior cerebral artery with ipsilateral decrease in internal carotid artery (ICA) caliber, and this can be seen on MR angiograms 1).

Epidemiology

Hypoplasia of the proximal (A1) segment of the anterior cerebral artery (ACA) was examined in 50 human brains and on 8 selected carotid arteriograms. Hypoplasia has been found in 22% of the cases. Two types of this phenomenon exist, namely the mild and extreme hypoplasia. Mild hypoplasia has been noticed in 14% of the specimens. The hypoplastic vessel has ranged from 1.3 to 1.9 mm in diameter (average 1.6 mm) and it was from 0.6 to 0.9 mm smaller than the opposite A1 portion. Extremely hypoplastic proximal segment has been present in 8% of the cases. It has varied from 0.3 to 1.1 mm in size (average 0.9 mm) and has been more than 1 mm smaller than the opposite proximal segment. Both mild and extreme hypoplasia have been associated in 81.8% of the cases with the corresponding variations or malformations of the anterior cerebral, posterior cerebral, posterior communicating and basilar arteries 2).

The incidence of right-sided A1 segment hypoplasia either accompanied with AcomA aneurysm or not was much greater than that of left-sided. Intracranial AcomA aneurysm development appeared to be associated with A1 segment hypoplasia 3).

Complications

The A1 segment of the anterior cerebral artery is a principal supplier of anterior collateral blood flow.

The aim of a study was to determine whether A1 segment hypoplasia may be responsible for acute ischemic stroke.

Chuang et al. consecutively examined 280 acute ischemic stroke patients (aged 66.9 +/- 14.2 years). Cerebral magnetic resonance angiography was performed within 72 h of ischemic stroke onset. The overall incidence of A1 variation in our experimental group was 15.0% (n = 42, agenesis/hypoplasia = 18/24), which was statistically higher than in the control group (n = 12). The majority (n = 30, 71.42%) had ipsilateral striatal lacunar infarctions. Based on these results, A1 agenesis/hypoplasia appears to be a risk factor contributing to ischemic stroke, especially to strokes in arteries penetrating the striatal area 4).

Yamaguchi et al. report two cases of bilateral anterior cerebral artery (ACA) territory infarction. On magnetic resonance (MR) angiograms, the A1 segment of the ACA was unilaterally hypoplastic in both cases, suggesting that unilateral hypoplasia of A1 is a significant predisposing factor for this rare type of cerebral infarction. When the contralateral A1 is dominant, embolic materials may enter into it more easily 5).


Hypoplasia of the A1 segment of the anterior cerebral artery is frequently observed in patients with anterior communicating artery aneurysms. The effect of this anatomical variant on ACoA aneurysm morphology is not well understood 6).

Case series

2017

Yang et al. retrospectively reviewed 251 patients with ACoA aneurysm who underwent surgical clipping in Beijing Tiantan Hospital between September 2011 and September 2016. Their clinical and radiologic features, as well as clinical outcomes were reviewed. In addition, univariate and multivariate logistic regression analysis was performed to identify independent risk factors for the postoperative infarction and unfavorable clinical outcomes of surgical clipping ACoA aneurysm.

The incidence of A1 segment hypoplasia was 49.8% (125 of 251 patients). Univariate analysis revealed that multiple aneurysm (P=0.025), diameter of aneurysm (P=0.040) and A1 segment hypoplasia (P=0.010) were associated with anterior cerebral artery (ACA) territories infarction, and A1 segment hypoplasia (P=0.002) is significantly correlated with unfavorable clinical outcomes of surgical clipping ACoA aneurysm. Moreover, multivariate analysis showed that multiple aneurysm (P=0.038, OR=2.571), diameter of aneurysm (P=0.034, OR=1.097) and A1 segment hypoplasia (P=0.007, OR=3.619) were strongly independent risk factors for ACA territories infarction. In addition, Hunt and Hess scores (HH) (P=0.036, OR=2.326) and A1 segment hypoplasia (P=0.002, OR=2.873) are significant independent risk factors for unfavorable clinical outcomes of surgical clipping ACoA aneurysm.

A1 segment hypoplasia is a significant independent risk factor for unfavorable clinical outcomes of surgical clipping ACoA aneurysm and ACA infarction after surgery 7).

Case reports

2016

A case of anterior cerebral artery A1 segment hypoplasia syndrome presenting with right lower limb monoplegia, abulia, and urinary incontinence8).

2000

A 68-year-old man presented with a Hunt and Hess Grade II subarachnoid hemorrhage and symptoms of headache, nuchal rigidity, and facial paresis. : Angiographic evaluation with superselective exploration revealed a small ruptured aneurysm located on a duplicated hypoplastic A1 segment of the left anterior cerebral artery with associated middle cerebral artery stenosis and secondary early moyamoya changes. Surgical clipping of the aneurysm was performed successfully while sparing the hypoplastic A1 segment.

A1 aneurysms occurring on a duplicated anterior cerebral artery segment probably develop from a congenital weakness of the parent vessel and increased local shear stress. Superselective angiography was helpful in the preoperative planning and facilitated the decision to treat with surgical clipping instead of embolization 9).

1)

Kane AG, Dillon WP, Barkovich AJ, Norman D, Dowd CF, Kane TT. Reduced caliber of the internal carotid artery: a normal finding with ipsilateral absence or hypoplasia of the A1 segment. AJNR Am J Neuroradiol. 1996 Aug;17(7):1295-301. PubMed PMID: 8871715.
2)

Marinković S, Kovacević M, Milisavljević M. Hypoplasia of the proximal segment of the anterior cerebral artery. Anat Anz. 1989;168(2):145-54. PubMed PMID: 2712326.
3)

Chen H, Li MH. A1 segment hypoplasia accompanied by AcomA aneurysms assessed with magnetic resonance angiography. Surg Radiol Anat. 2014 May;36(4):353-7. doi: 10.1007/s00276-013-1182-5. Epub 2013 Aug 4. PubMed PMID: 23912562.
4)

Chuang YM, Liu CY, Pan PJ, Lin CP. Anterior cerebral artery A1 segment hypoplasia may contribute to A1 hypoplasia syndrome. Eur Neurol. 2007;57(4):208-11. Epub 2007 Jan 19. PubMed PMID: 17268201.
5)

Yamaguchi K, Uchino A, Sawada A, Takase Y, Kuroda Y, Kudo S. Bilateral anterior cerebral artery territory infarction associated with unilateral hypoplasia of the A1 segment: report of two cases. Radiat Med. 2004 Nov-Dec;22(6):422-5. PubMed PMID: 15648459.
6)

Rinaldo L, McCutcheon BA, Murphy M, Bydon M, Rabinstein AA, Lanzino G. 360 Relationship of A1 Segment Hypoplasia to Anterior Communicating Artery Aneurysm Morphology and Risk Factors for Rupture. Neurosurgery. 2016 Aug;63 Suppl 1:207. doi: 10.1227/01.neu.0000489849.55193.67. PubMed PMID: 27399558.
7)

Yang F, Li H, Wu J, Li M, Chen X, Jiang P, Li Z, Cao Y, Wang S. Relationship of A1 segment hypoplasia to the radiological and clinical outcomes of surgical clipping anterior communicating artery aneurysm. World Neurosurg. 2017 Jul 29. pii: S1878-8750(17)31222-6. doi: 10.1016/j.wneu.2017.07.122. [Epub ahead of print] PubMed PMID: 28765030.
8)

Lakhotia M, Pahadiya HR, Prajapati GR, Choudhary A, Gandhi R, Jangid H. A case of anterior cerebral artery A1 segment hypoplasia syndrome presenting with right lower limb monoplegia, abulia, and urinary incontinence. J Neurosci Rural Pract. 2016 Jan-Mar;7(1):189-91. doi: 10.4103/0976-3147.168438. PubMed PMID: 26933381; PubMed Central PMCID: PMC4750332.
9)

Taylor R, Connolly ES Jr, Duong H. Radiographic evidence and surgical confirmation of a saccular aneurysm on a hypoplastic duplicated A1 segment of the anterior cerebral artery: case report. Neurosurgery. 2000 Feb;46(2):482-4. PubMed PMID: 10690739.

Update: Maffucci syndrome

Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier disease) combined with spindle cell hemangiomas (Maffucci syndrome).

Additionally, neuroendocrine tumors including pituitary adenomas have been described in patients with Maffucci syndrome.

The rate of malignant transformation in Maffucci syndrome is high, with enchondromas transforming into chondrosarcomas and the development of secondary neoplasms, including pancreatic and hepatic adenocarcinoma, mesenchymal ovarian tumors, and brain tumors such as glioma. However, hematopoietic malignancies arising in Maffucci syndrome are rare 1)

Etiology

The underlying genetic etiology lies in somatic mosaicism of mutations in isocitrate dehydrogenase 1 (IDH1) or isocitrate dehydrogenase 2 (IDH2)2).

Case series

2017

Cerebral MRI was routinely performed in Ollier-Maffucci patients followed-up in tertiary centers. Patients with previous history of skull base or intracranial tumors were excluded from the study. Clinical and radiological datas were retrospectively collected. The occurrence rate and nature of abnormal cerebral MRIs were determined.

Twelve patients were included. A glioma-looking lesion was found in one patient (8%), while skull base lesions were evidenced in 3 others (25%). A regular MRI follow-up was recommended for each patient, with a time interval varying between 1year and 3years depending on the likelihood of tumoral evolutivity, as infered from the MRI findings.

All in all, the high rate of intracranial and skull base lesions with a malignant potential warrants to include cerebral MRI in the routine follow-up of Ollier-Maffucci patients 3).

Case report

2016

A report describes a patient with Maffucci syndrome who presented with skull base tumors and suprasellar region. The patient underwent resection of both intracranial tumors, revealing histopathological diagnoses of chondrosarcoma and pituitary adenoma. DNA sequencing of the tumors was performed to identify common IDH1/2 mutations. Clinical, radiological, and biochemical assessments were performed. Genotypic studies used standard Sanger sequencing in conjunction with a target-specific peptide nucleic acid to detect IDH1 mutations in tumor tissues. DNA sequencing demonstrated identical IDH1 mutations (c.394C > T) in both tumors.

This report provides the first genetic evidence for the inclusion of pituitary adenomas among tumors characterizing Maffucci syndrome. In patients who are newly diagnosed with Maffucci syndrome, it is appropriate to monitor for development of pituitary pathology and neuroendocrine dysfunction 4).


A 39-year-old woman who was diagnosed with Maffucci syndrome together with intrahepatic cholangiocarcinoma (IHCC). Heterozygous somatic mutations in the isocitrate dehydrogenase 1 and 2 (IDH1/IDH2) genes are associated with a number of different tumor types (e.g. IHCC) and also with Maffucci syndrome. For IHCC, mutations in IDH1/IDH2 are associated with higher survival rates. IHCC tissue as well as normal liver tissue and peripheral blood were analyzed for IDH1/IDH2-mutations in our patient. In the tumor sample, we identified a recurrent somatic IDH1-mutation affecting Arg132, while in normal liver tissue and peripheral blood, no variants were detected, as expected.

This case report presents the second patient in the literature exhibiting the features of Maffucci syndrome along with cholangiocarcinoma. This supports the hypothesis that IDH1/2-mutations, which can be present in different types of tumor tissue simultaneously, arise during embryonic development in a mosaic pattern; as a result, a more aggressive follow-up is proposed in patients with Maffucci syndrome to exclude neoplasms 5).

2009

First case of Maffucci syndrome associated with a pituitary adenoma and a probable brainstem glioma

A 35-year-old woman with Marfucci syndrome (diagnosed when she was 22 years old) who presented with complaints of decreased visual acuity and visual field defect. Neuroimaging revealed a pituitary macroadenoma and a suspected brainstem tumor. The macroadenoma was partially removed. There were no postoperative complications and the patient experienced rapid improvement in visual acuity. On follow-up examination 2 years later, the lesion in the pons showed the same dimensions. No sarcomatous changes of enchondromas or hemangiomas occurred. To the authors’ knowledge, including the present case, only 7 cases of Maffucci syndrome associated with glioma and 7 cases associated with pituitary adenoma have been reported in the literature. This report emphasizes that patients with this disease are at a higher risk for primary intracranial tumors and reinforces the concept of the multiplicity of tumors that may arise in this syndrome. It also underscores the importance of early diagnosis, regular clinical surveillance, and follow-up studies of these patients 6).

1)

Akiyama M, Yamaoka M, Mikami-Terao Y, Ohyama W, Yokoi K, Arakawa Y, Takita J, Suzuki H, Yamada H. Somatic mosaic mutations of IDH1 and NPM1 associated with cup-like acute myeloid leukemia in a patient with Maffucci syndrome. Int J Hematol. 2015 Dec;102(6):723-8. doi: 10.1007/s12185-015-1892-z. Epub 2015 Oct 27. PubMed PMID: 26508204.

2)

Pansuriya TC, van Eijk R, d’Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet. 2011 Nov 6;43(12):1256-61. doi: 10.1038/ng.1004. PubMed PMID: 22057234; PubMed Central PMCID: PMC3427908.

3)

Mandonnet E, Anract P, Martin E, Roujeau T, Spena G, Cormier-Daire V, Duffau H, Baujat G; Collaborators. Brain and skull base MRI findings in patients with Ollier-Maffucci disease: A series of 12 patient-cases. Clin Neurol Neurosurg. 2017 Jul 18;160:147-151. doi: 10.1016/j.clineuro.2017.07.011. [Epub ahead of print] PubMed PMID: 28750360.

4)

Hao S, Hong CS, Feng J, Yang C, Chittiboina P, Zhang J, Zhuang Z. Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome. J Neurosurg. 2016 Jun;124(6):1562-7. doi: 10.3171/2015.4.JNS15191. Epub 2015 Oct 16. PubMed PMID: 26473790.

5)

Prokopchuk O, Andres S, Becker K, Holzapfel K, Hartmann D, Friess H. Maffucci syndrome and neoplasms: a case report and review of the literature. BMC Res Notes. 2016 Feb 27;9(1):126. doi: 10.1186/s13104-016-1913-x. PubMed PMID: 26920730; PubMed Central PMCID: PMC4769492.

6)

Ruivo J, Antunes JL. Maffucci syndrome associated with a pituitary adenoma and a probable brainstem tumor. J Neurosurg. 2009 Feb;110(2):363-8. doi: 10.3171/2008.8.JNS08150. Review. PubMed PMID: 18976063.