Symmetric hypoplasia of the temporal cerebral lobes in an infant with glutaric aciduria type II (multiple acyl-coenzyme A dehydrogenase deficiency).
Symmetric hypoplasia of the temporal cerebral lobes was demonstrated by magnetic resonance imaging of the brain in a macrocephalic male patient with glutaric aciduria type II within the first week of life. Psychomotor development was normal until the age of 11 months, when the patient died of sudden cardiac arrest. Autopsy revealed symmetric hypoplasia of the temporal cerebral lobes with loss of axons and hypomyelination in the temporal medullary layers.
Stöckler
S
S
Departments of Pediatrics, University of Graz, Austria.
Radner
H
H
Karpf
E F
EF
Hauer
A
A
Ebner
F
F
D017809:Fatal Outcome; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D005977:Glutarates / Q000652:urine; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000473:pathology; D009097:Multienzyme Complexes / Q000172:deficiency*; D009186:Myelin Sheath / Q000473:pathology; D013702:Temporal Lobe / Q000002:abnormalities / Q000473:pathology*
D005977:Glutarates; D009097:Multienzyme Complexes; D044943:Fatty Acid Desaturases; C035736:glutaric acid