Symmetric hypoplasia of the temporal cerebral lobes in an infant with glutaric aciduria type II (multiple acyl-coenzyme A dehydrogenase deficiency)

• Published in: The Journal of pediatrics Vol. 124; no. 4; pp. 601 - 604
• Main Authors: Stöckler, Sylvia, Radner, Herbert, Karpf, Eva Felizitas, Hauer, Almuth, Ebner, Franz
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.04.1994; Elsevier
• Subjects: Biological and medical sciences; Disorders of blood lipids. Hyperlipoproteinemia; Fatal Outcome; Fatty Acid Desaturases - deficiency; Glutarates - urine; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Medical sciences; Metabolic diseases; Metabolism, Inborn Errors - pathology; Multienzyme Complexes - deficiency; Myelin Sheath - pathology; Temporal Lobe - abnormalities; Temporal Lobe - pathology; Human; Hypolipemia; Hypoplasia; Temporal lobe; Nervous system diseases; Multiple; Enzyme; Deficiency; Metabolic diseases; Axon; Infant; Enzymopathy; Nuclear magnetic resonance imaging; Acyl-CoA dehydrogenase; Genetic disease; Cerebral disorder; Case study; Central nervous system disease; Oxidoreductases; Brain (vertebrata)
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/S0022-3476(05)83142-7

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.