A 12 year old girl child presents with head ache, unsteadiness and poor hearing which has worsened over the past 5 years. His father has a history of brain surgery and he is deaf since his 35 years. Most likely diagnosis in the child
Answer: c) Neurofibromatosis 2 (HARRISON 19TH ED, P-604)NEUROFIBROMATOSISType 1 (Von Recklinghausen disease)Type 2 (Acoustic neurofibromatosis)* Most common phakomatosis* 50% have family history* NF1 gene in Chr 17 that encodes Neurofibromin* Cafe-au-lait spots* Lisch nodules (Iris hamartoma)* Cutaneous, subcutaneous and plexiform (premalignant) neurofibromas* Pseudoarthrosis of the tibiaIncreased risk of* Optic nerve glioma (most common CNS tumor)* Meningioma, Schwannoma, Astrocytoma* Pheochromocytoma* NF 2 gene in Chr 22 that encodes Merlin* Cafe-au-lait spots* Lisch nodules not seenIncreased risk of* Bilateral acoustic schwannomas (most common)* Meningioma, Astrocytoma, Ependymoma* Nodular ingrowth of Schwann cells into the spinal cord (Schwannosis)* Proliferation of meningeal cells and blood vessels that grows into the brain(Meningioangiomatosis)* Microscopic collections of glial cells at abnormal locations (glial hamartia) often in the cerebral cortexNeurofibromatosis type 2 (NF2)Characterized by the development of bilateral vestibular schwannomas (acoustic neuromas) in 90% that lead to deafness, tinnitus, or vertigo.Some patients with NF2 also develop meningiomas, spinal schwannomas, peripheral nerve neurofibromas, and cafe au lait macules.Endocrine abnormalities are not found in NF2 and are associated solely with NF1Malignant change may occur in NF1 neurofibromas but is rare in NF2 schwannomas
Optic glioma
Tuberous sclerosis
Neurofibromatosis 2
Late onset congenital deafness
C.N.S.