Case Report

Neurofibromatosis type 2 (NF2) :A rare cause of teenage

deafness
Manzoor Latoo, Lateef Mohammed, Rafiq Ahmed, Rouf Ahmed, Qazi Sajad. Nassima Chanda,
Farah Sameem, Syed Besina

Abstract
Type 2 neurofibromatosis is a rare cause of deafness and tinnitus in the teenage It is an
autosomal dominant disorder characterised by development of bilateral vestibular schwannomas in
the second and third decade of life. We present a case of a 12 year old boy who presented with
tinnitus and deafness with posterior lenticular opacity. MRI revealed bilateral vestibular
schwannoma and meningioma of ventricular horn.
JK-Practitioner 2006;13(1):39-40
INTRODUCTION:
Type 2 neurofibromatosis (central or bilateral neurofibromatosis) is
an autosomal dominant genetic disease characterised by development of
bilateral vestibular schwannoma~ in second and third decade of life. It has
been shown to be due to loss of tumor suppressor gene which has recently
been cloned on chromosome 22q1 .Fifty percent of the affected individual
offsprings are likely to inherit this disorder. The national institute of health has
led following diagnostic criteria for NF22.
Bilateral vestibular schwannoma or family history of NF2.
Plus
1. Unilateral acoustic or
2. Any two of ; meningioma, glioma, neurofibroma, Posterior subcapsular
lenticular opacity.
Case summary:
We present a12 year old boy a student of 8th primary a product of
normal full term delivery with six year history of blindness right eye which
initially began as dimunition of vision, progressed gradually and finally he
was not able to see with his right eye. Patient also has 2 year’s history of
tinnitus which was felt as ringing sensation in right ear, prominent during
night. Patient also gives two and a half months history of decreased hearing on
Authors’ affiliations:
the right side. There is no history of vertigo, ear discharge, headache,
Manzoor Latoo, Prof. Lateef
convulsion, fever, vomiting, weakness of any part of face, paresthesias,
Mohammed, Rafiq Ahmed, Rouf
numbness. There was no complaint pertaining to any other organ system.
Ahmed, Qazi Sajad.
There was no such history in the family. There were no audiological
Department of ENT
symptoms in the first degree family members.
Farah Sameem
Department of Dermatology
Examination revealed inability of the patient to hear normal
SMHS, Hospital Srinagar conversation. Right side eye had opacity in the pupil (Figure 1). There was one
Kashmir (India) cafe-au-Iait spot at the angle of the mandible on right side.
Nassima Chanda, Syed Besina Ear examination revealed intact tympanic membrane which was dull
Department of Pathology lustreless with myringosclerosis. Left tympanic membrane was intact with
SKIMS, Soura Srinagar Kashmir normal cone of light. Tuning fork tests showed right sided sensorineural
deafness. All cranial nerves were normal. There was no other skin lesion. Cold
Accepted for publication : calorie test did not show any response on the right side . Pure tone audiogram
October 2005 showed right sided sensorineural hearing loss. Ophthalmologic examination
was done which reported as right hypermature cataract with vision of 6/18 in
Correspondence: left eye, no projection of light in the right eye and heterochromia.
Dr.Manzoor Latoo, Registrar With this clinical picture a tentative impression of NF2 was made.
Deptt. Of ENT Patient was advised MRI brain, C P angle and spine. MRI showed an irregular
SMHS, Hospital hypointense lesion on Tlw images in right CP angle with compression of the
Srinagar ipsilateral cerebellar hemisphere and mass effect on the 4th ventricle. The
lesion was hyperintense on the T2w sequence. Also a small irregular
hyperintense lesion was seen in the left CP angle with no mass effect or edema.
Another well defined lesion was seen in the right frontal horn of right lateral
ventricle. The radiological impression was that of .bilateral CP angle .tumor
Key words: Neurofibromatosis type 2, Posterior lenticular opacity, Café-au-lait spots,
Deafness, NF 2.

JK- Practitioner Vol.13, No. 1, January - March 2006 39

Case Report

Fig 1 Fig 2 Fig 3

with intraventricular lesion(figure 2&3). Thus patient was
filling the diagnostic criteria of the neurofibromatosis 2 as
laid by the NIH 19872. Patient was operated for the acoustic
neuroma right and is being followed in the neurosurgery
department.
Discussion: NF2 is a rare autosomal dominant
disorder with a birth incidence of 1 in 35000 and actual
diagnostic prevalence is only 1 in 200000.3 Majority of
cases of NF2 present with symptoms related to their
vestibular schwannoma such as deafness
tinnitus,imbalance or vertigo4. Most have unilateral
symptoms at presentation but it is not uncommon for
presence of silent second side tumor to be revealed during-
the course. of investigation of an apparently unilateral
problem. There is no predictable relationship between
tumor size and degree of hearing loss. It is not uncommon to
find a small tumor with poor hearing on one side and a
contralateral large tumor with good hearing.
While assessing a teenager with audiological
symptoms and keeping in mind all common causes, NF2 is
also to be born in mind because it is rare but it is there. A
clinical pattern in the form of unilateral tinnitus, hearing
loss, vertigo with no obvious history of any inflammatory
pathology in the past plus examination not in favour of any
inflammatory pathology demands evaluation for acoustic
neuroma and in a teenager for NF2. ;
Same clinical judgement has proved fruitful in our
case where in a young boy of 12 year’s with progressive
hearing loss and decreased vision with no prevjous history
of inflammatory pathology and examination also not in
favour of any inflammatory pathology was suspected of
having NF2.
Audiological assessment is important in arriving
at diagnosis of NF2 as it might reveal mild to severe SNHL,
a speech discrimination score lower than would be
anticipated from the pure tone test, a low SISI score, partial
or complete tone decay and a type iii or iv Beksey
audiogram and no recruitment.4 However with the advent of
MRI the diagnosis of NF2 has been revolutionised and in
fact the audiological battery of tests is now longer a
prerequisite . MRI with gadolinium enhancement has
broadened our .knowledge of diverse and distinct CNS
manifestations of neurofibromatosis. MRI is better than CT
in detecting and defining many brain and spine lesions.3
In our case also pure-tone audiogram revealed
severe SNHL , but instead of subjecting the patient to
audiological battery of tests and being confident of clinical
judgement we subjected patient to MRI and confirmed
diagnosis.
Conclusion: We coclude that NF2 is a rare cause of
hearing toss but it is to be kept in mind in a particular
clinical setting and audiological battery is no longer a
prerequisite with the advent of newer imaging modalities.

Further Reading
1. Kanter WR, Eldrige R, Fabricant R,
A l l e n J C , K o e b b e T. c e n t r a l
neurofibromatosis with bilateral
acoustic neuromas ;genetic , clinical
and biochemical distinction from
peripheral neurofibromatosis:
Neurology 1980; 30 ;851-859.
2. Mulvihill J John, NIH conference
statement. Neurofibromatosis l ( Von-
Recklinghausen disease) and
Neurofibromatosis 2 ( Bilateral
acoustic neurofibromatosis)An
update. Annals of Internal Medicine
1990: 113: 39-52.
3. Evans DGR,Ramsden R, Husan
SM,Harris R,Lye R. Type 2
neurofibromatosis:The need for
supraregional care?Journal of
laryngology and otology
1993:107;401-6.
4. Kaiser-Kupfer MI, Freidlin V, Dalitis
MB et al. The association of posterior
capsular lens opacities with bilateral
acoustic neuromas in patients with
neurofibromatosis type 2. Arch
ophthalmol 1989; 107; 541-544.

40 JK- Practitioner Vol.13, No. 1, January - March 2006