CASE REPORT

NEUROFIBROMATOSIS TYPE II: A RARE NEUROCUTANEOUS

SYNDROME
Tipu Sultan, Ashfa Ameer Khan,** Muhammad Akbar Malik, Malik Muhammad Nadeem,* Mahfooz-ur-Rahman** and
Malik Muhammad Nazir Khan

ABSTRACT
Neurocutaneous syndromes are heterogeneous group of disorders with abnormalities of central as well as peripheral nervous system.
Neurofibromatosis type II (NF-II) is an autosomal dominant neurocutaneous syndrome rarely diagnosed in pediatric population.
Diagnosis is based on clinical history and radioimmaging. We present a 14 years old boy with headache and decreased hearing, who
turned to be a case of neurofibromatosis type II.

KEY WORDS: Neurocutaneous syndromes. Neurofibromatosis. Brain tumors.

INTRODUCTION
Neurocutaneous syndromes include neurofibromatosis
(type I and II), struge weber syndrome, linear nevus
syndrome, tuberous sclerosis, hypomelanosis of ito,
incontenantia pigmenti, von hipple-lindau disease and ataxia
telangiectasia.1 They have abnormalities of central as well as
peripheral nervous system. They arise because of defect in
the primitive ectoderm. Neurofibromatosis is classified into two
types according to their features. Neurofibromatosis type II
(NF-II) is quite uncommon variety both among the
neurocutaneous syndrome and in neurofibromatosis, having
annual incidence of 1/50,000 in west. 2 Only 10% of all cases
of NF are diagnosed as NF-II. NF-II is autosomal dominant in
inheritance and gene maps to the long arm of chromosome
22 and codes C member of protein 4.1 family of cytoskeltal
associated elements. 3
A meningioma or schwannoma in a child raise the possibility
of NF-2. Many new mutations have been identified. 2 Clinical
presentation is quite variable and depends upon the
underlying problem. Several schemes for the clinical diagnosis
of NF-II are available. One commonly used scheme is,4,5
bilateral VIII nerve masses consistent with acoustic neuromas
(radiologically) or a first degree relative (parent, sibling or
child) with NF-II and either unilateral VIII nerve mass or any
two of the neurofibroma, meningioma, glioma and
schwannoma or juvenile posterior subcapsular lenticular
opacities.
vision and hearing for last one week. Headache was
associated with projectile vomiting. There was no history of
fits, trauma, ear discharge or unconsciousness. He was
student of class ten with normal growth and development,
born to consanguineous parents and had five siblings with no
finding suggestive of NF-II.
On examination, he was fully conscious and oriented with
papilledema and Glasgow coma scale of 14/15. He had left
sided 7th cranial nerve palsy, with brisk deep tendon reflexes
in all 4 limbs. Systemic examination was within normal limits.
Audiometry revealed bilateral profound degree sensor-
neuronal hearing loss. Computed tomographic scan and
magnetic resonance imaging (MRI) of brain showed bilateral
acoustic neuromas and hydrocephalus (Figure 1) while spinal
MRI was normal.
He had been operated twice, first for third ventriculostomy to
relieve the raised intracranial pressure and then for removal of
right sided tumor in the first stage of surgery. Second surgery
was planned, later on. His immediate postoperative period
was good and he was sent home after one week with follow-
up of two weeks. Histopathologic examination of excised

CASE REPORT
A 14 years old boy presented to the Neurology department
Acoustic Neuroma

with complaint of headache for the last one month, decreased

Department of Paediatric Neurology, The Children’s Hospital and Institute of Child

Health, Lahore - Pakistan.
*Department of Paediatric Neurosurgery, The Children’s Hospital and Institute of Child
Health, Lahore.
**Department of Paediatric Radiology, The Children’s Hospital and Institute of Child
Health, Lahore.
Correspondence: Dr. Tipu Sultan, 80-A-III, Johar Town, Lahore. Acoustic Neuroma
E-mail: tipusultanmalik@hotmail.com
Figure 1: Bilateral acoustic neuromas (arrow head).
Received February 15, 2006; accepted April 25, 2007.

376 JCPSP 2007, Vol. 17 (6): 376-377

Neurofibromatosis type II: a rare neurocutaneous syndrome
specimen was consistent with schwannoma. Later on, he was
advised for hearing aid and regular liaison with the audiologist.
DISCUSSION
NF-II usually presents in adult life, though paediatric cases
have been described. This child’s symptoms of hearing loss,
facial weakness, headache or ataxic gait may appear in
childhood. Cafe’ au lait spots and other skin manifestations of
NF-I are much less common in NF-II. Central nervous system
tumors including schwan cell, glial tumors, and meningiomas
are common in patients with NF-II. Parents with NF have 50%
chances of transmitting the disease with each pregnancy. 2
Acoustic neuromas are hallmark of NF-II. They are basically
schwannomas of the eighth nerve.6 Only 6% of acoustic
neuromas come to medical attention in the second decade
and even fewer in the first decade. Children with acoustic
neuroma usually have NF-II. Later on, other cerebral tumors,
such as meningioma, glioma, schwannoma, and juvenile
posterior subcapsular lenticulater opacity may develop. 7
Deafness or tinnitus is common presenting complaints and our
child also had hearing difficulties. Ipsilateral diminished
corneal reflex occurs in 50% and ataxia, facial hyperesthesia
or weakness, and nystagmus occur in about one-third
children. Large tumors cause obstructive hydrocephalus with
symptoms of increased intracranial pressure and brainstem
compression.8 Our child had symptoms of raised intracranial
pressure for which we immediately performed third
ventriculostomy. NF is a good example of breeds true for
successive generations.1 Fetal DNA provides prenatal testing 9
Every child with progressive hearing impairment or tinnitus
requires careful examination for café au lait spots. Exploration
of the family history for acoustic neuroma or other neurological
problems is also required. Abnormalities of pure-tone
audiometry is present in almost every patient, but is not
necessary for diagnosis. Magnetic resonance imaging is the
test of choice to detect tumors.6
Surgery and the photon knife are useful for tumor resection.
Surgery may sacrifice residual hearing and sometimes cause
a facial palsy. The superiority of the photon knife to standard
surgery is not yet established. To detect complication and
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JCPSP 2007, Vol. 17 (6): 376-377
associated problems, these patients should have regular
follow-up of a pediatrician or pediatric neurologist.
Neurocutaneous syndromes are not only medical problem but
also has significant social impact on the child because of
limited quality of life .10 Multidisciplinary approach including
genetic counseling is the most important aspect of
management .5
REFERENCES
1. The nervous system. In: Behrman RE, Kliegman RM, Jenson HB, (edi).
Nelson textbook of paediatrics. 17th ed. Philadelphia: Saunder; 2004;
p.1973-2052.
2. Ferrie C, Martland T, Newton R. Neurology. In: McIntosh N, Helms PJ,
Smyth RL, (edi). Forfar Arneil’s text book of pediatrics. 6th ed. London:
Churchill Livingstone; 2003; p. 889-1057.
3. Sultan T, Khan MMN. Neurofibromatosis type-I: a case with uncommon
findings. Pak Paediatr J 2005; 29:101-3.
4. Baser ME, Friedman JM, Wallace AJ, Ramsden RT, Joe H, Evans DG.
Evaluation of clinical, diagnostic criteria for neurofibromatosis 2.
Neurology 2002; 59:1759-65.
5. Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, et
al. The diagnostic evaluation and multidisciplinary management of
neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997; 278: 51-
7.
6. Lower brain stem and cranial nerves dysfunction. In: Feninchal GM,
(edi). Clinical paediatric neurology. 5 th ed. Philadelphia: WB Saundres;
2005; p. 331-51.
7. Hurst RW, Newman SA, Cail WS. Multifocal intracranial abnormalities in
neurofibromatosis. AJNR Am J Neurodial 1988; 9: 293-6.
8. Martaza RL, Eldridge R. Neurofibromatosis 2 (bilateral acoustic
neurofibromatosis). N Engl J Med 1988; 318: 684-8.
9. Health supervision for children with neurofibromatosis. American
Academy of Pediatrics Committee on Genetics. Pediatrics 1995; 96: (2
Pt): 368-72.
10. Aurakzai AA, Imran M. Neurofibromatosis presenting as a social
problem: a case report. J Postgrad Med Inst 2002; 16: 221-2.
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