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Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease

Sarah Catharina Grünert1, Brian Fowler, Andrea Superti-Furga

  • 1Centre for Pediatrics and Adolescent Medicine, University of Freiburg Hospital, Germany. sarah.gruenert@uniklinik-freiburg.de

Brain & Development
|October 8, 2010
PubMed

Insights

Cobalamin C (cblC) defect, a metabolic disorder, can cause severe neurological issues. A patient experienced an acute encephalopathic crisis following a high fever, leading to significant brain damage.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Cobalamin C (cblC) defect is the most common inherited disorder of cobalamin metabolism.
  • It typically presents with progressive neurological, hematological, and ophthalmological symptoms.

Observation:

  • A cblC patient diagnosed neonatally showed near-normal development in the first year.
  • At 14 months, the patient suffered an acute encephalopathic crisis during a febrile illness.

Findings:

  • The crisis resulted in severe mental retardation and marked cerebral atrophy.
  • This hyperacute presentation is unusual for cblC defects.

Implications:

  • The case raises questions about whether the cblC defect predisposed the brain to fever-induced damage.
  • Further research is needed to understand the link between hyperpyrexia and cblC-related encephalopathy.

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