CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase.
Two CT scans have been performed on a child with a biochemically confirmed 3-HMG-CoA-lyase deficiency. Macrocephalus, widespread hypodensity of the white matter with cystic alterations and progressive dilatation of the ventricles were found. The clinical features and CT findings are surprisingly similar to findings in patients with spongy degeneration (Canavan).
D000214:Acyl Coenzyme A / Q000172:deficiency; D001927:Brain Diseases / Q000000981:diagnostic imaging* / Q000201:enzymology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007930:Leucine / Q000378:metabolism; D015093:Meglutol / Q000031:analogs & derivatives / Q000172:deficiency; D007652:Oxo-Acid-Lyases / Q000172:deficiency*; D014057:Tomography, X-Ray Computed
D000214:Acyl Coenzyme A; D015093:Meglutol; D007652:Oxo-Acid-Lyases; C021410:3-hydroxy-3-methylglutaryl-coenzyme A lyase; D007930:Leucine