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
Pediatricsjournal_title
Pediatricsauthors
Krueger JM,Piantino J,Smith CM,Angle B,Venkatesan C,Wainwright MSdoi
10.1542/peds.2013-1427subject
Has Abstractpub_date
2015-01-01 00:00:00pages
e202-6issue
1eissn
0031-4005issn
1098-4275pii
peds.2013-1427journal_volume
135pub_type
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