Clinical and MRI findings in a case of D-2-hydroxyglutaric aciduria.
We report the 3rd case in the literature of a 3-year-old boy with D-2-hydroxyglutaric (D-2-HG) aciduria, who presented primarily generalized hypotonia and feeding difficulty during the neonatal period, with eventual development of generalized myoclonic seizures. Gas chromatographic analysis of urinary organic acids showed persistent excretion of D-2-HG. The clinical manifestations are quite similar to those of the 2nd reported case with D-2-HG aciduria. Serial MRI performed 1 year and 2 1/2 years after birth demonstrated bilateral symmetrical periventricular lesions in the parieto-occipital white matter, which might reflect the cortical blindness in our patient.
Sugita
K
K
Department of Pediatrics, Faculty of Medicine, University of Chiba, Japan.
Kakinuma
H
H
Okajima
Y
Y
Ogawa
A
A
Watanabe
H
H
Niimi
H
H
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000503:physiopathology* / Q000652:urine; D001766:Blindness / Q000503:physiopathology; D001921:Brain / Q000473:pathology*; D002849:Chromatography, Gas; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D012640:Seizures / Q000503:physiopathology* / Q000652:urine
D005977:Glutarates; C019417:alpha-hydroxyglutarate