RARE CASE OF DOWN SYNDROME WITH STROKE- MOYAMOYA

Down syndrome is the most common chromosomal disorder.Downs syndrome associated with moyamoya disease has been increasingly noted in the last few years. Moyamoya syndrome is a chronicvasoocclusive disorder characterized by progressive stenosis of supraclinoid ICA with development of collaterals. Here we present a child 11 yr old female 2nd born of 3rd degree consanguineous marriage. She has been diagnosed as Down syndrome in infancy, confirmed by karyotyping at 2nd year. At 7 yr of age, child admitted with sudden onset of Right hemiparesis with dysarthria. CT brain showed hypodense area Left fronto-parietal region. Workup for infarct was normal. She had residual right hemiparesis. At 11 years of age, she was admitted with seizures.Present CT brain showed diffuse cortical atrophy with passive dilatation of ventricles. MRI showed infarct with gliotic changes in Left fronto-parietal region and bilateral cortical atrophy. MRA bilateral thinning of ICA with multiple collaterals (puff of smoke) moyamoya syndrome. Disease is progressive. Outcome is poor without treatment. Good recovery is noteworthy regardless of the atrophy of cortical dendrites and reduced synaptogenesis in Down syndrome. Surgical treatment synangiosis has excellent prognosis as primary moya-moya disease. Thus early diagnosis of moyamoya in Downs, coupled with expeditious institution of therapy is of paramount importance in long term outcome.