Galactosemia with chorea--an unusual presentation.
Galactosemia, an inborn neurometabolic disorder, results from an aberrant galactose metabolism due to the deficiency of serum galactose-1-phosphate uridyltransferase activity. It manifests in the central nervous system in the form of hypotonia, seizures, mental retardation, tremor, ataxia, and progressive cerebellar as well as extrapyramidal features. To the best of our knowledge, chorea due to galactosemia has not been reported in infancy.
Shah
Parvaiz A
PA
Neurology Division, Department of internal Medicine, Government Medical College and Associated S.M.H.S. Hospital, Srinagar, Kashmir, J&K, India. parvaizshah11@rediffmail.com
Kuchhai
Faiz A
FA
D002675:Child, Preschool; D002819:Chorea / Q000150:complications*; D003241:Consanguinity; D005260:Female; D005693:Galactosemias / Q000150:complications* / Q000503:physiopathology*; D006801:Humans