Multiple CNS Tumors in a Patient With Neurofibromatosis Type 2: Classical Presentation of a Rare Diseas
Neurofibromatosis type 2 is a genetic autosomal dominant disorder, caused by spontaneous mutation in the gene located on chromosome 22 q11-13.1,which usually emerges in adolescence or early adulthood and is characterized by development of bilateral vestibular schwannoma. We hereby report the classical case of Neurofibromatosis type 2 in a 25 years old young male with multiple tumors associated with the disease.This patient presented to us with 3 years history of multiple painless nodules on his skin, facial weakness , left sided progressive hearing loss and 20 days history of weakness in the left lower limb. On Examination he was vitally with a GCS of 15/15. He was anemic with no jaundice. He had left inguinal lymphadenopathy along with multiple subcutaneous nodules on different areas including the scalp, face, left mid axillary line over the abdomen.He also had Right sided facial palsy and horizontal nystagmus. CNS examination revealed upgoing plantar on left side, right facial nerve palsy and bilateral vestibulocochlear nerve paralysis. Spine examination revealed spinal tenderness in the lower lumbar region.Superficial abdominal reflexes were absent. Upper limb and right lower limb power, tone and reflexes were normal while the tone and power in the left lower limb was reduced power being ⅗. Reflexes were also exaggerated in the left lower limb. The right ankle showed swelling most probably a plexiform neuroma.
On investigations he had normochromic normocytic anemia with mild leucocytosis. Platelets were normal. Rest of the biochemical investigations including serum electrolytes, liver function tests and renal function tests were also normal.MRI brain and spine confirmed bilateral accoustic neuroma and multiple cranial and peripheral nerves tumors i.e classical presentation of a rare disease neurofibromatosis.He was referred to neurology unit for further assesment and treatment.
Krzystolik K, Cybulski C, Sagan L, Nowacki P, Lubiński J.Endolymphatic sac tumors and von Hippel-Lindau disease – case report, molecular analysis and histological characterization. Folia Neuropathol. 2009; 47 (1): 75–80.
Santos CC, Miller VS, Roach ES. Zespoły nerwowo-skórne. In:
Bradley WG iet al. (eds.). Neurologia w praktyce klinicznej. Lublin: Wydawnictwo Czelej; 2006. pp. 2229–2268.
Ward BA, Gutmann DH. Neurofibromatosis 1: from lab bench to clinic. Pediatr Neurol. 2005; 32 (4): 221–228.
WishartJH. Case of tumours in the skull, dura mater, and brain. Edinburgh Med SurgJ 1982; 18:393-397.
Von Recklinghausen F. Uber die multiplen Fibroma der Haut und lhre Beziehung zu den multiplen Neuromen. Berlin: A. Hirschwald, 1882.
Neurofibromatosis. Conference Statement. Arch Neurol. 1988; 45 (5): 575–578.
Ferner, Rosalie E., Susan M. Huson, and D. Gareth R. Evans. Neurofibromatoses in clinical practice. Springer, 2011.15Jean Régis; Pierre-Hugues Roche (2008). Modern Management of Acoustic Neuroma. Karger Publishers. pp. 191–. ISBN 978-3-8055-8370-1. Retrieved 20 December 2010.
Walter J, Kuhn SA, Brodhun M, Reichart R, Kalff R (June 2009). "Pulmonary meningioma and neurinoma associated with multiple CNS tumours in a patient with neurofibromatosis type 2". Clin Neurol Neurosurg. 111 (5): 454–9. doi:10.1016/j.clineuro.2008.11.018. PMID 19249154.
Okada, Tomoyo; You, Liru; Giancotti, Filippo G. (May 2007). "Shedding light on Merlin's wizardry". Trends in Cell Biology. 17 (5): 222–229. doi:10.1016/j.tcb.2007.03.006. ISSN 1879-3088. PMID 17442573.
Santos CC, Miller VS, Roach ES. Zespoły nerwowo-skórne. In: Bradley WG iet al. (eds.). Neurologia w praktyce klinicznej. Lublin: Wydawnictwo Czelej; 2006. pp. 2229–2268.
Sagar SM, Izrael MA. Pierwotne i przerzutowe guzy układu nerwowego. In: Hauser SL (ed.) Harrison. Neurologia w medycynie klinicznej. Vol. II: Lublin: Wydawnictwo Czelej; 2008. pp. 433–451.
Omeis I, Hillard VH, Brain A, Benzil DL, Murali R, Harter DH. Meningioangiomatosis associated with neurofibromatosis: report of 2 cases in a single family and review of the literature. Surg Neurol.2006; 65 (6): 595–603.
Jean Régis; Pierre-Hugues Roche (2008). Modern Management of Acoustic Neuroma. Karger Publishers. pp. 191–. ISBN 978-3-8055-8370-1. Retrieved 20 December 2010.
Evans DGR, Ramsden R, Huson SM, Harris R, Lye R, King TT. Type 2 neurofibromatosis: the need for supraregional care? J Laryngol Otol 1992; In Press.
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.