J Pediatr 1988 Dec;113(6):1022-7
Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia.
No To Hattatsu 1993 Nov;25(6):554-7
Department of Pediatrics, Tochigi Prefectural Hospital and Welfare Center for the Crippled.
We report a patient with methylmalonic acidemia who developed an acute extrapyramidal disorder after severe ketoacidosis. The neurologic findings resulted from bilateral destruction of the globus pallidus. A 10-year-old girl was the term product of an uncomplicated pregnancy and delivery. Read More
Ann Neurol 1986 Sep;20(3):364-6
A child was seen because of encephalopathy and metabolic ketoacidosis at 19 months. She was found to have a cobalamin-responsive form of methylmalonic acidemia of the cbl A complementation group. However, after treatment with cyanocobalamin and a protein-restricted diet, with recovery from the encephalopathy, she was found to have a tremor and bilateral dystonic posturing in association with lucencies in the globus pallidi shown by computed tomographic scan. Read More
Eur J Pediatr 1990 May;149(8):582-4
Department of Paediatrics, University Hospital of Antwerp, Wilrijk, Belgium.
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. Read More
AJNR Am J Neuroradiol 1994 Sep;15(8):1459-73
Department of Diagnostic Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Purpose: To present the CT and MR findings in children with propionic and methylmalonic acidemia.
Methods: Twenty-three new patients with methylmalonic and 20 with propionic acidemia were examined with CT and/or MR of the brain. In total 52 CT and 55 MR studies were done. Read More