Turkish Neurosurgery 8: 53 - 56, 1998 Kotil: Neurofibromatosis-2 with Multiple Spinal Tumors

A Case of Neurofibromatosis-2 Associated WithMultiple Spinal Tumors

Çoklu Omurilik TümörüyleNörofibromatosis-2

BirlikteOlgusu

Seyreden

KADIR KOTIL, TEVFIK GÖZÜM, CUMA YILMAZ

Haseki Hospital, Department of Neurosurgery, Istanbul, Turkey

Abstract: Neurofibromatosis -2 is rare in allneurocutaneos disorders.We report a case in a 20-year­old girl in whom magnetic resonance imaging revealedmultiple supratentorial and infratentorial tumorsassociated with cervical extradural and thoracicintramedullary spinal schwannomas. This combinationis rarely seen. We conclude that there is a clinical entityof multiple spinal cord tumors associated withneurofibromatosis-2.

Key Words: Neurofibromatosis, magnetic resonanceimaging, schwannoma

INTRODUCTION

Neurofibromatosis 2 is an autosomal dominant

disease predisposing to multiple tumors of thecentral and peripheral nervous system. The NF2 casereported in 1882 by Wishart was probably the firstthat had ever been reported on the very subject ( 8).Bilateral vestibuler schwannomas are haiimarks of

the disease. To define the clinical spectrum, weperformed magnetic resonance imaging of the brainand spine. Bilateral vestibular schwannomas arepathognomonic for NF2 and occur in 90% of adultpatients (1). Patients with NF2 virtuaiiy frequentlyhave spinal nerve tumors, which are usuallyschwanomas, and also have an increased incidenceof intracranial meningiomas and intrameduiiaryspinal cord tumors (ependymoma, astrocytoma,schwanoma)(2). The most frequent ocularabnormalities are early onset cataracts, hamartomas,

Özet: Nörofibromatosis-2 az görülen bir nörokütanözhastalikhr. Manyetik rezonans görüntülernede servikalekstradural ve torakal omurilik içi schwannomlarlabirlikte seyreden çok sayida supratentoriyel veintratentoriyel tümörü saptanan 20yasinda bir kadin hastasunuldu. Bu tümörlerin birlikte görülmesi nadirdir.Nörofibromatosis-2 ile birlikte olan çoklu omuriliktümörünün ayn bir klinik durumu oldugu sonucunavardik.

Anahtar Sözcükler: Manyetik rezonans görüntülerne,nörofibromatosis, schwannoma

meningiomas and epiretinal membranes (3,4). Thegene for neurofibromatosis 2 is located near thecenter of the long arm of chromosome 22 (9,10).

The criteria for NF-2 are determined as foiiows:1. Bilateral eighth nerve massesseen withappropriate imaging techniques (CT and MRI) or, 2.A first-degree relative with NF-2 and eitherunilateral eighth nerve mass or two of the foiiowing:neurofibroma, meningioma, glioma ,schwannomaor juvenile posterior subcapsular lenticular opacity.Spinal tumors are a major cause of NF-2 morbidityand mortality (5).

CASE REPORT

A 20-year-old girl who suffered from bilateralhearing loss and strabismus 10 years ago. Shehad strabismus operation due to her strabismus

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Tiirkish Neiirosiirgery 8: 53 - 56, 1998

disease at the age of 10, and she also had an operationdue to carpal tunnel syndromas, which led to lefthand weakness (incorrect diagnosis) when she were19 of age; she now has complaints of headache,vertigo, left 3. and 7. cranial nerve palsy. Cranial andspinal MR! of her head, which were taken at timesshowed bilateral, 26x25x25 mm acousticschwannoma, 40x19x38 mm right juguler foramenschwannoma, 12x18x11mm.left parasellarmeningioma, left upper cervical cord schwannoma,thorasic 10-11 intramedullary schwannomas,bilateral cerebellar cortical and left frontal corticalca1cifications and occipital subcutan eous lipoma,which, suggested NF2 (Figures 1,2,3,4). She had nofamily history of NF. Systemic and ocular diseasewere not found.

Figure 1: Contrast enhanced Tl-weighted MRI of theposterior fossa showing bilateral acousticschwannomas.

Figure 3: Unenhanced T2 weighted magnetic resonanceimaging of thr thoracic spine showing theintramedullary thoracic schwannoma.

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Kotil: Neurofibromatosis-2 witii Miiltiple Spinal Tiimors

She underwent a suboccipital craniectomI.Furthermore, bilateral acoustic schwannomas havebeen extracted; histological diagnosis was acousticneuroma. A gross total resection has been achievedof spine tumors by cervical 1-4 and thoracic 9-12laminectomI. Pathological diagnosis was cervicalextadural schwannoma and thorasic intradural

schwannoma. A second operation was performedfifteen days after the first because of parasellar mass.The second postoperatif period was also uneventful.However, she died in the second postoperatif weekas a result of pulmoner insufficiency.

Figure 2: Axial cervical MRI showing left jugular foramenschwannoma in upper cervical region.

Figure 4: Unenhanced T2 weighted MRI of the spineshowing a histologically confirmed extraduralschwannoma extending from CL to C3.

Turkis/i Neurosurgery 8: 53 - 56, 1998

DISCUSSION

NF describes two major human geneticdisorders that are distinct clinical entities. However,both demonstrate autosomal dominant inheritance

and involve tumors of the nervous system (9,10).

NF-l is more common (incidence 1of every 3000individual) and is characterized by a variable arrayof features, such as neurofibromas, cafe-au-lait spot,lish nodules of the iris, and other certain CNS tumors(10).Astrocytomas are the most comman intracranialtumor in NF-l (11). Other tumors, such asependymomas, may occur with an excessivefrequency (13).

NF-2 is even more rare and occurs in about 1 of

every 50.000-100.000 individual (9,14). it ischaracterized by bilateral acoustic neuromas, whichare schwannomas of the vestibular branch of theVIIIth cranial nerve. Tumors of the CNS are

relatively comman in NF-2. Schwannomas are mostcomman, on the other hand, multiple tumors ofmeningeal and glial origin can alsa occur especiallymeningiomas can easily develop (6,11).Schwannomas, which are the most commanextramedullary tumors, always originate fromsensory nerve roots; theyare frequently located inthe cervicothoracic region and may grow into adumbbell shape, which causes the neural foramento expand. However, intramedullary tumors areusually ependymomas, and less likely law gradeastrocytomas (11). CNS calcification and subcutanlipofibrom are extremely rare in NF-2 but our caseinhered these lesions.

NF-2 is genetically distinct from NF-1. Linkagestudies have shown the NF-2 gene to be onchromosome 22(6). An abnormal NF-2 generevelation of such as in patients with NF-2, can leadto tumor formatian in affected tissues. However, itmust be stressed that sporadic tumors in the generalpopulation may or may not be associated withalterations in the NF genes.

Rodriguez and Berthrong (16) reported such apatient and included an extensive review of theliterature in 1966. They found 16 reported cases ofpatients with NF and intramedullary spinal cordtumorso All of these patients had NF-2, as currentlydefined. They were eight ependymomas, threeastrocytomas, and three gliomas. More recently, areport on NF-2 in the pediatric age group includedthree patients with intramedullary spinal cordtumors. However, onlyone was biopsied and it wasdiagnosed as ependymoma (11,12).

Kotil: Neurofibroniatosis-2 wit/i Multiple Spinal Tl/mors

Multiple intradural spinal tumors are commanin NF-2 (less comman in NF-l)(3). Pathologically,ependymomas are comman but astrocytoma,meningioma, and neurofibroma are less comman (3).The histologies of NF-l and NF-2 tumors arecontroversial. Halliday et aL. (9) suggested thathistologically, NF-l spinal tumors wereneurofibromas; whereas, NF-2 spinal tumors wereschwannomas (13). In our patients, the histology ofspinal tumors were typicalaf schwannomas incervical and thorasic region. Cervical schwannomaswere extradural, whereas, thoracic tumors wereintradural, and no association of either form of NFwithspinal cord tumors has been reported so far(10,15). The distinct histological features of thesetumors ma y reflect differen t pa thogeneticmechanisms even though theyarise at identical sitesin NF-l and NF-2 (9,11). Cerebral and cerebellarcalcifications are extremely ra re in NF-2; our patienthad bilateral frontal cortical and cerebellar cortical

calcifications. Mark Lee et aL. have alsa reported apatient with NF 2 and C5- T3 intramedullaryschwannoma (LO).

CONCLUSION

We condude that intramedullary andextramedullary spinal cord tumors should beincluded in the typical spectrum of CNS tumorsassociated with NF-2. We think that this associationhas not previously been made explicit because ofthe rarity of intramedullary and extramedullaryspinal cord tumors on those patients with NF-2. Incontrast, most spinal nerve shea th tumors inneurofibromatosis type 2 or those that occursporadically are schwannomas. Spinal tumorlocalization may be multiple in NF-2 and mayrequire a different histopathological diagnosis .Thepoint is to identify the very area or those areasrequiring special attentian while trying to payspecial cere to the en tire neuroaxis in the long termfollow -up of these patients. Whether all NF-2patients should undergo presymptomatic screeningwith MRI or visual evoked response testing is notcertain, but this is recommended in most centers (ll).Growth of these tumors may be quite variable andsame may require no specific therapy. Progressivesymptoms or tumor enlargement are handledsurgically; yet, though less likely, radiation andchemotheraphy can alsa apply. Therefore, in suchcases surgical operation may be recommendedsecondary to radiation and chemotheraphy.

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Turkish Neiirosurgery 8: 53 - 56, 1998

Correspondence: Kadir KotilHaseki Hastanesi Nörosinirji KlinigiIstanbuL, TurkeyPhone: (212) 589 1421

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Kotil: Neiirofibromatosis-2 with Multiple Spinal Tumors

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