Introduction

Childhood ataxia with central nervous system hypo-myelination/vanishing white matter disease (CACH/VWM) is autosomal recessive leukodystrophy characterized by progressive ataxia, spasticity and rarely optic atrophy.

Methods

This is a retrospective chart review of 11 children from Jan 2014 to June 2018 with VWD diagnosed by the clinical presentation with radiological features and/or genetics.

Results:

Out of 11, 6 were females; with a mean age of presentation 5 yrs and age of onset 2 yrs.  All were having consanguinity with sibling deaths among five. All initially presented with normal developmental followed by regression initially in motor followed by cognition. All children had spasticity and ataxia. Five were having optic atrophy. Eight were having epilepsy (GTCS-4, Focal-3, and Myoclonic-1). Precipitating factors for regression were fever-6 and trauma-2.  Waxing waning course was noted among five cases. MRI brain did in all cases revealed characteristics findings with bilaterally symmetrical diffuse white matter signal changes with near CSF intensities with cerebellar atrophy among eight. Mutation in five cases was noted, among them two were novel.  Mutation detected includes pCys424Gly on EIF2B3 and two novel missense mutations were c.584G>A (pR195H) (Homozygous) on EIF2B5 (Exon-4) and c.350T>C, (pV117A) (Homozygous) on EIF2B3. Other cases couldn’t be done as the patients were unaffordable. Only four are alive other succumbed. Antenatal diagnosed in 3 families and were prevented from recurrence.

Conclusion:

Any leukodystrophy following febrile illness/trauma with spasticity, ataxia, with or without waxing waning course and characteristic MRI of brain, VWM should be considered.