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A Case of Mistaken Identity: Glutaric Aciduria Type I Masquerading as Postmeningitic Hydrocephalus

Heena Rajani1, Shabnam Bhandari Grover1, Neha Antil1

  • 1Department of Radiology and Imaging, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

Journal of Clinical Imaging Science
|December 15, 2018
PubMed

Insights

Neuroimaging reveals key features of glutaric aciduria type 1, a rare metabolic leukodystrophy. Early diagnosis is crucial to prevent neurological damage and developmental delays.

Area of Science:

  • Neurology
  • Metabolic Disorders
  • Neuroimaging

Background:

  • Rare metabolic leukodystrophies present diagnostic challenges.
  • Consanguinity can increase the incidence of rare genetic disorders.
  • Glutaric aciduria type 1 is an inherited metabolic disorder affecting the brain.

Observation:

  • An 8-year-old boy presented with macrocrania, developmental regression, and dystonia.
  • Neuroimaging revealed ventriculomegaly, diffuse brain atrophy, widened sylvian fissures, temporal lobe hypoplasia, periventricular white-matter hyperintensities, and basal ganglia abnormalities.
  • Clinical diagnosis was initially suspected as postmeningitic hydrocephalus.

Findings:

  • Characteristic neuroimaging findings were indicative of glutaric aciduria type 1.
  • The imaging pattern mimicked other neurological conditions, potentially delaying diagnosis.
  • Specific features included bilateral basal ganglia atrophy and hyperintensity.

Implications:

  • Increased radiologist awareness of glutaric aciduria type 1 imaging features is essential.
  • Early diagnosis and treatment can halt disease progression.
  • Accurate neuroimaging interpretation prevents misdiagnosis and ensures timely intervention for metabolic leukodystrophies.

Keywords:
Glutaric aciduria type 1hydrocephalusmacrocraniamagnetic resonance imaging

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