Symmetrical necrosis of the basal ganglia in methylmalonic acidaemia.
In a patient with methylmalonic acidaemia (MMAA), persistent neurological symptoms were observed in addition to the acute episodes of metabolic dysequilibrium. CT scan and magnetic resonance imaging revealed bilateral symmetrical necrosis of the globus pallidus. Different episodes of metabolic decompensation, one with severe acidosis, had occurred. Persistent neurological symptoms in patients with MMAA who are appropriately treated suggest irreversible brain damage which appears to occur preferentially at the level of the basal ganglia.
Department of Paediatrics, University Hospital of Antwerp, Wilrijk, Belgium.
A M
AM
Roodhooft
E R
ER
Baumgartner
J J
JJ
Martin
W
W
Blom
K J
KJ
Van Acker
D000138:Acidosis / Q000097:blood / Q000209:etiology / Q000628:therapy / Q000652:urine; D002493:Central Nervous System Diseases / Q000097:blood / Q000000981:diagnostic imaging / Q000209:etiology* / Q000652:urine; D002648:Child; D002675:Child, Preschool; D003131:Combined Modality Therapy; D005347:Fibroblasts / Q000201:enzymology; D005917:Globus Pallidus / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008314:Malonates / Q000097:blood*; D008661:Metabolism, Inborn Errors / Q000097:blood* / Q000150:complications / Q000201:enzymology / Q000652:urine; D008764:Methylmalonic Acid / Q000097:blood* / Q000652:urine; D009336:Necrosis; D014057:Tomography, X-Ray Computed
D008314:Malonates; D008764:Methylmalonic Acid