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

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.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Krueger JM,Piantino J,Smith CM,Angle B,Venkatesan C,Wainwright MS

doi

10.1542/peds.2013-1427

subject

Has Abstract

pub_date

2015-01-01 00:00:00

pages

e202-6

issue

1

eissn

0031-4005

issn

1098-4275

pii

peds.2013-1427

journal_volume

135

pub_type

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