Childhood ataxia with cerebral hypomyelination (CACH) syndrome: a study of three siblings.
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.
Vaidya
Sachin R
SR
Department of Neurology, Sir JJ Group of Hospitals, Mumbai, India.
Desai
Shrinivas B
SB
Khadilkar
Satish V
SV
Mehta
Neeta A
NA
D000203:Activities of Daily Living; D001259:Ataxia / Q000209:etiology*; D001921:Brain / Q000473:pathology; D001923:Brain Chemistry; D002648:Child; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000150:complications / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009186:Myelin Sheath / Q000473:pathology*; D013577:Syndrome