Affiliations: Division of Pediatric Neurology and Neurodevelopment,
Department of Pediatrics, Postgraduate Institute of Medical Education and
Research, Chandigarh, India | Department of Radiology, Postgraduate Institute of
Medical Education and Research, Chandigarh, India
Note: [] Correspondence: Dr. Pratibha Singhi, Advanced Pediatrics
Centre, Postgraduate Institute of Medical Sciences, Chandigarh, 160012, India.
E-mail: pratibhasinghi@yahoo.com
Abstract: Methylmalonic acidemia is a genetically heterogeneous disorder
characterized by accumulation of methylmalonic acid and its by-products in
biological fluids that leads to numerous neurologic sequelae such as hypotonia,
stroke, encephalopathy and mental retardation. Infantile spasms with
hypsarrhythmias and acute extrapyramidal symptoms are rarely reported. We
report a three and a half year old child with methylmalonic acidemia who
presented at 1 year of age with infantile spasms, which were controlled with
adrenocorticotrophin hormone therapy. Later, he presented with altered
sensorium, cerebral venous thrombosis and acute extrapyramidal symptoms during
decompensation phase. The child showed significant response to dietary protein
restriction and hydroxycobalamin and carnitine supplementation.
