Glutaric aciduria type I. Brain CT features and a diagnostic pitfall.
Serial CT findings in an infant with glutaric aciduria type I (GA-I) are reported. The major CT features were dilatation of the insular cisterns, regression of the temporal lobes, with "bat wings" dilatation of the Sylvian fissures and hypodensity of the lenticular nuclei. CT changes preceded the onset of symptoms by 3 months. An improvement in the temporal lobe atrophy was seen after a period of treatment, coinciding with marked clinical improvement. A peculiar feature was the presence of external hydrocephalus, which diverted the attention from manifestations of the primary disease and thus constituted a diagnostic pitfall. The delineation and recognition of the characteristic radiologic manifestations of GA-I are essential for allowing an adequate radiologist/clinician interaction in diagnosing this inborn error of metabolism.
Mandel
H
H
Department of Pediatrics, Rambam Medical Center, Haifa, Israel.
Braun
J
J
el-Peleg
O
O
Christensen
E
E
Berant
M
M
D000592:Amino Acid Metabolism, Inborn Errors / Q000000981:diagnostic imaging*; D001921:Brain / Q000000981:diagnostic imaging*; D001927:Brain Diseases / Q000000981:diagnostic imaging; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007223:Infant; D008297:Male; D014057:Tomography, X-Ray Computed
D005977:Glutarates; C035736:glutaric acid