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Autosomal dominant acute necrotizing encephalopathy.

D E Neilson1, R M Eiben, S Waniewski

  • 1Department of Pediatrics, University Hospitals of Cleveland, and Case Western Reserve University, Cleveland, OH, USA. den4@po.cwru.edu

Neurology
|July 23, 2003
PubMed
Summary

This study defines a rare autosomal dominant acute encephalopathy. Affected children experience coma after fever, with outcomes ranging from recovery to death, and show specific brain lesions.

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Area of Science:

  • Neurology
  • Genetics
  • Biochemistry

Background:

  • Acute encephalopathy presents a diagnostic challenge, particularly in inherited forms.
  • Understanding the genetic basis and clinical spectrum of encephalopathies is crucial for diagnosis and management.

Observation:

  • A family study identified an autosomal dominant acute encephalopathy.
  • Affected children developed coma following febrile illness, with variable outcomes including death.
  • Pathological findings revealed necrotizing encephalopathy in the thalamus and brainstem.

Findings:

  • Muscle biopsy mitochondria exhibited loose coupling of oxidative phosphorylation.
  • Magnetic resonance imaging (MRI) and autopsy confirmed thalamic and brainstem lesions.
  • Incomplete penetrance was observed, with unaffected relatives not showing clinical symptoms.

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Implications:

  • Characteristic pathology and MRI findings help define this specific form of acute encephalopathy.
  • This disorder is distinct from Leigh syndrome and sporadic acute necrotizing encephalopathy.
  • Identifying this genetic disorder aids in genetic counseling and understanding encephalopathy pathogenesis.