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 Citations (Scopus)

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
Externally publishedYes

Fingerprint

Metabolic Brain Diseases
Vitamin B 12
Nervous System
Hyperhomocysteinemia
Brain Diseases
Vitamins
Neurodegenerative Diseases
Seizures
Differential Diagnosis
Diet
Mutation
Genes
Therapeutics

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

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

A treatable metabolic cause of encephalopathy : Cobalamin C deficiency in an 8-year-old male. / Krueger, Jena M.; Piantino, Juan; Smith, Craig M.; Angle, Brad; Venkatesan, Charu; Wainwright, Mark S.

In: Pediatrics, Vol. 135, No. 1, 01.01.2015, p. e202-e206.

Research output: Contribution to journalArticle

Krueger, JM, Piantino, J, Smith, CM, Angle, B, Venkatesan, C & Wainwright, MS 2015, 'A treatable metabolic cause of encephalopathy: Cobalamin C deficiency in an 8-year-old male', Pediatrics, vol. 135, no. 1, pp. e202-e206. https://doi.org/10.1542/peds.2013-1427
Krueger, Jena M. ; Piantino, Juan ; Smith, Craig M. ; Angle, Brad ; Venkatesan, Charu ; Wainwright, Mark S. / A treatable metabolic cause of encephalopathy : Cobalamin C deficiency in an 8-year-old male. In: Pediatrics. 2015 ; Vol. 135, No. 1. pp. e202-e206.
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