Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy.
We report a rare case of straight-chain acyl-CoA oxidase deficiency (McKusick 264470) presenting with dysmorphism, neurodevelopmental regression and leukodystrophy.
Kurian
M A
MA
Department of Paediatric Neurology, The Children's University Hospital, Dublin, Ireland.
Ryan
S
S
Besley
G T N
GT
Wanders
R J A
RJ
King
M D
MD
D000015:Abnormalities, Multiple / Q000209:etiology*; D042962:Acyl-CoA Oxidase / Q000172:deficiency*; D001321:Autistic Disorder / Q000209:etiology*; D001927:Brain Diseases / Q000175:diagnosis / Q000209:etiology*; D001933:Brain Stem / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000209:etiology; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008661:Metabolism, Inborn Errors / Q000150:complications*
D042962:Acyl-CoA Oxidase