Medknow Publications on behalf of the Neurological Society of India
Vol. 52, No. 3, 2004, pp. 372-374
Bioline Code: ni04120
Full paper language: English
Document type: Research Article
Document available free of charge
Neurology India, Vol. 52, No. 3, 2004, pp. 372-374
© Copyright 2004 Neurology India.
Case Report - Childhood Ataxia with Cerebral Hypomyelination (CACH) syndrome: A study of three siblings|
Vaidya SachinR, Desai ShrinivasB, Khadilkar SatishV, Mehta NeetaA
We report a family of three siblings with Childhood Ataxia with Cerebral Hypomyelination. All the siblings presented with early onset cerebellar ataxia beginning around five years of age with mild mental retardation. MRI showed diffuse white matter signal changes in all three patients with cerebellar atrophy while the spectroscopy was abnormal only in the eldest who was the most severely affected. The cases are reported for their rarity as well as for an opportunity of observing this uncommon disease in its stages of evolution in three siblings.
Childhood ataxia, hypomyelination, MRI, spectroscopy
Alternative site location: http://www.neurologyindia.com