Infantile spasms, cerebral venous thrombosis and acute extrapyramidal symptoms in a child with methylmalonic acidemia

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.

Keywords

Methylmalonic acidemia - infantile spasms - cerebral venous thrombosis - acute extrapyramidal symptoms

Publication History

Received: 14 May 2008

Accepted: 07 October 2008

Publication Date:
30 July 2015 (online)