Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood

J Child Neurol. 2009 Jun;24(6):750-2. doi: 10.1177/0883073808329525.

Abstract

Biotin-responsive basal ganglia disease is a rare childhood neurological disorder of uncertain etiology that is treatable if suspected and diagnosed. Only few cases have been reported earlier in literature. We report a case of biotin-responsive basal ganglia disease suspected clinically, corroborated by neuroimaging and a dramatic response to biotin therapy.

Publication types

  • Case Reports

MeSH terms

  • Basal Ganglia Diseases / diagnosis
  • Basal Ganglia Diseases / drug therapy*
  • Basal Ganglia Diseases / pathology
  • Biotin / therapeutic use*
  • Brain / pathology
  • Child
  • Diagnosis, Differential
  • Female
  • Follow-Up Studies
  • Humans
  • Magnetic Resonance Imaging
  • Myoclonic Epilepsies, Progressive / diagnosis
  • Myoclonic Epilepsies, Progressive / drug therapy*
  • Myoclonic Epilepsies, Progressive / pathology
  • Vitamin B Complex / therapeutic use*

Substances

  • Vitamin B Complex
  • Biotin