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 CASE REPORT
Year : 2004  |  Volume : 52  |  Issue : 3  |  Page : 372--374

Childhood Ataxia with Cerebral Hypomyelination (CACH) syndrome: A study of three siblings


Department of Neurology, Sir JJ Group of Hospitals and Grant Medical College, Mumbai - 400 008, India

Correspondence Address:
Satish V Khadilkar
Room No. 110, New wing, first floor, Bombay Hospital and Medical Research Centre, New Marine Lines, Mumbai - 400 020
India
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Source of Support: None, Conflict of Interest: None


PMID: 15472431

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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.






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Online since 20th March '04
Published by Wolters Kluwer - Medknow