Diffuse leukoencephalopathy: unusual sonographic finding in an infant with mitochondrial disease.
Several mitochondrial diseases are known to occasionally involve the cerebral white matter, but in these cases the major findings are involved in the basal ganglia and brainstem. We report a case of diffuse white matter involvement in an infant with mitochondrial disease that was diagnosed via mitochondrial DNA analysis. Mitochondrial disease should be considered in the diagnosis of diffuse leukoencephalopathy in infancy.
Hung
Po-Cheng
PC
Division of Pediatric Neurology, Chang Gung Children's Hospital, Chang Gung Memorial Hospital, 5 Fu-Hsing Street, Kwei-Shan, Taoyuan 333, Taiwan.
Wang
Huei-Shyong
HS
D015140:Dementia, Vascular / Q000175:diagnosis* / Q000000981:diagnostic imaging* / Q000401:mortality; D018450:Disease Progression; D017809:Fatal Outcome; D006257:Head / Q000000981:diagnostic imaging*; D006801:Humans; D007223:Infant; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics; D025261:Mitochondrial Proton-Translocating ATPases / Q000235:genetics; D009154:Mutation; D014463:Ultrasonography
C412204:ATP synthase subunit 6; D025261:Mitochondrial Proton-Translocating ATPases