Neuropathology of methylmalonic acidemia in a child.

  title={Neuropathology of methylmalonic acidemia in a child.},
  author={Takeshi Kanaumi and Sachio Takashima and Shinichi Hirose and Toshikatsu Kodama and Hiroshi Iwasaki},
  journal={Pediatric neurology},
  volume={34 2},
Methylmalonic acidemia is a rare disease, and its neuropathology in childhood has been rarely reported. A 3-year-old male with vitamin B12 nonresponsive type of methylmalonic acidemia developed repeated attacks of acidemia associated with common cold since neonatal age. Psychomotor development was markedly delayed, and he died of a severe attack of acidemia. Postmortem examination disclosed marked brain atrophy with old lesions of hypomyelination, granule cell reduction, and spongy changes… CONTINUE READING