Article
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.
Journal of inherited metabolic disease - 1 Mar 2016
Jacobsen Jessie C, Wilson Callum, Cunningham Vicki, Glamuzina Emma, Prosser Debra O, Love Donald R, Burgess Trent, Taylor Juliet, Swan Brendan, Hill Rosamund, Robertson Stephen P, Snell Russell G, Lehnert Klaus
Abstract excerpt
Two male siblings from a consanguineous union presented in early infancy with marked truncal hypotonia, a general paucity of movement, extrapyramidal signs and cognitive delay. By mid-childhood they had made little developmental progress and remained severely hypotonic and bradykinetic. They developed epilepsy and had problems with autonomic dysfunction and oculogyric crises. They had a number of orthopaedic...
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