1.
Indian Pediatr
;
2016 May; 53(5): 427-428
Artigo
em Inglês
| IMSEAR
| ID: sea-179013
RESUMO
Background: Dopa responsive dystonia is characterized by progressive disabling dystonia, diurnal variation and a dramatic response to Levodopa. Case characteristics: Two siblings presented with regression of motor milestones and hypertonia in lower limbs. History of diurnal variation was present in elder sibling. Outcome: Both responded dramatically to Levodopa. The genomic DNA analysis of elder sibling revealed a novel mutation. Message: A trial of Levodopa should be considered in a child with motor regression with diurnal variation, in the presence of extrapyramidal features.