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Rare genetic causes of meningitis and encephalitis

Jangsup Moon1

  • 1Rare Disease Center, Departments of Genomic Medicine and Neurology, Seoul National University Hospital, Seoul, Korea.

Encephalitis (Seoul, Korea)
|July 20, 2023
PubMed

Insights

Diagnosing meningitis and encephalitis is difficult due to overlapping symptoms and varied causes. This article highlights rare genetic conditions, including autoinflammatory disorders and specific genetic mutations, that can mimic these neurological infections.

Area of Science:

  • Neurology
  • Genetics
  • Immunology

Background:

  • Meningitis and encephalitis present diagnostic challenges due to similar symptoms and diverse etiologies.
  • Distinguishing between infectious and non-infectious causes, particularly genetic disorders, is crucial for accurate diagnosis and treatment.

Purpose of the Study:

  • To elucidate rare genetic etiologies of meningitis and encephalitis.
  • To provide a comprehensive overview of genetic disorders that can manifest with symptoms mimicking infectious meningitis or encephalitis.

Main Methods:

  • Literature review focusing on genetic disorders presenting as meningitis or encephalitis.
  • Categorization of identified genetic conditions into autoinflammatory syndromes and other specific genetic defects.

Main Results:

  • Identified several rare genetic causes, including cryopyrin-associated periodic syndromes, familial Mediterranean fever, and tumor necrosis factor receptor-associated periodic syndrome.
  • Highlighted other genetic disorders such as complement factor I deficiency, phosphatidylinositol glycan anchor biosynthesis class T mutation, and neuronal intranuclear inclusion disease.

Conclusions:

  • Rare genetic disorders represent an important differential diagnosis for meningitis and encephalitis.
  • Recognition of these genetic conditions is essential for appropriate patient management and avoiding misdiagnosis of infectious causes.
Keywords:
Differential diagnosisEncephalitisInborn genetic diseasesMeningitisRare diseases

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