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Clinical and neuropathological picture of ethylmalonic aciduria - diagnostic dilemma

Ewa Jamroz1, Justyna Paprocka, Dariusz Adamek

  • 1Child Neurology Department, Medical University of Silesia, Poland.

Folia Neuropathologica
|April 2, 2011
PubMed

Insights

Ethylmalonic aciduria, a metabolic disorder, can cause severe brain damage. This case report details the first neuropathological findings in a patient with ethylmalonic aciduria.

Area of Science:

  • Biochemistry
  • Neuropathology
  • Metabolic Disorders

Background:

  • Ethylmalonic acid (EMA) elevation in urine is a marker for various metabolic conditions and SCAD gene polymorphisms.
  • Diagnosis of ethylmalonic aciduria can be challenging due to its non-specific nature.

Observation:

  • An 8-month-old girl initially suspected of neuroinfection was diagnosed with ethylmalonic aciduria.
  • Neuropathological examination revealed diffuse brain cortex damage, particularly severe in sulci depths.

Findings:

  • Affected cortical regions displayed disrupted stratification and were replaced by granulation tissue with increased vascularity.
  • This represents the first documented case of ethylmalonic aciduria with detailed brain autopsy findings.

Implications:

  • Highlights the severe neuropathological consequences of ethylmalonic aciduria.
  • Emphasizes the need for early diagnosis and understanding of metabolic disorders affecting the brain.
  • Provides crucial data for future research into ethylmalonic aciduria pathogenesis and treatment.

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