A treatable metabolic cause of encephalopathy: Cobalamin C deficiency in an 8-year-old male

Jena M. Krueger, Juan Piantino, Craig M. Smith, Brad Angle, Charu Venkatesan, Mark S. Wainwright

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Neurologic regression in a previously healthy child may be caused by metabolic or neurodegenerative disorders, many of which have no definitive treatment. We report a case of a previously healthy 8-year-old boy who presented with a month-long history of waxing and waning encephalopathy and acute regression, followed by seizures. Evaluation for a metabolic disorder revealed methylmalonic acidemia and hyperhomocysteinemia of the cobalamin C type due to a single, presumed homozygous pathogenic c.394 C>T mutation in the MMACHC gene. With the appropriate diet restrictions and vitamin replacement, he improved significantly and returned to his premorbid level of behavior. This case illustrates an unusual presentation of a treatable metabolic disorder and highlights the need to consider cobalamin defects in the differential diagnosis of healthy children with neurologic regression.

Original languageEnglish (US)
Pages (from-to)e202-e206
JournalPediatrics
Volume135
Issue number1
DOIs
StatePublished - Jan 1 2015

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Krueger, J. M., Piantino, J., Smith, C. M., Angle, B., Venkatesan, C., & Wainwright, M. S. (2015). A treatable metabolic cause of encephalopathy: Cobalamin C deficiency in an 8-year-old male. Pediatrics, 135(1), e202-e206. https://doi.org/10.1542/peds.2013-1427