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Paediatric

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Neurology

Question
32 out of 92
 

Which one of the following is the most common tumor associated with type I neurofibromatosis - (AIIMS Nov 2013)



A Optic nerve glioma

B Meningioma

C Acoustic schwannoma

D Low grade astrocytoma

Ans. A

Optic nerve glioma

Neurofibromatosis type I (Von-Recklinghewsen disease)

o NF-1 is diagnosed when any two of the following seven signs are present.

1. Six or more cafe-au-lait macules

• 5 mm in prepupertal individuals

• 15 mm in postpubertal individuals

• Cafe-au-lait spots are the hallmark of neurofibromatosis and are present in almost 100% of the patient.

2. Axillary or inguinal freckling

3. Two or more Lisch nodules.

• Lisch nodules are hamartomas located within the iris.

4. Two or more neurofibmma or one plexiform neurofibroma.

• Typically involve the skin, but may be situated along peripheral nerves and blood vessels.

• They are small, rubbery lesions with a slight purplish discoloration of the overlying skin.

5. A distinctive osseous lesion.

• Sphenoid dysplasia or cortical thinning of long bones.

6. Optic glioma

7. A first degree relative with NF-l

Other findings are: -

• Pseudoarthrosis of tibia.

• Scoliosis is the most common orthopaedic problem in NF-l, but is no! specific enough to be included as a diagnostic criterian.

• Short stature

• Mental retardation, epilepsy

• Hypertension

• Aqueductal stenosis with hydrocephalus

• Meningiomas, ependynomas, Astrocytomas, pheochromocytomas.

NF-1 is caused by mutation in NF-1 gene on chromosome 17 which encodes protein neurofibromin-1.

Neurofibromatosis type -2

o NF-2 may be diagnosed when one of the following two features are present.

1. Bilateral ocoustic neuroma -+ Most distinctive feature

2. A parent, sibling or child with NF-2 and either unilateral eighth nerve masses or any two of the following -)

o Neurofibroma, meningioma, glioma, Schwannoma or juvenile post subcapsular cataract.

• NF-2 is cause by mutation in NF-2 gene on chromosome 22 that encodes for protein neurofibromin 2, Schwannomin or merlin.

Neurology Flashcard List

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