Delayed Diagnosis of Dopa responsive Dystonia in Two Siblings.
نویسندگان
چکیده
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.
منابع مشابه
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 53 5 شماره
صفحات -
تاریخ انتشار 2016