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Findings on serial MRI in a childhood case of L2-hydroxyglutaric aciduria

Saminderjit Kular1

  • 1Department of Clinical Radiology, Royal Hallamshire Hospital, Sheffield Teaching Hospitals, Sheffield, UK.

Radiology Case Reports
|November 19, 2019
PubMed

Insights

L2-hydroxyglutaric aciduria (L2HGA) is a rare condition causing neurologic issues. This case report details its key MRI findings and their evolution over time, aiding diagnosis.

Area of Science:

  • Neurology
  • Pediatric Radiology
  • Metabolic Disorders

Background:

  • L2-hydroxyglutaric aciduria (L2HGA) is a rare inherited metabolic disorder.
  • It presents with significant neurological impairments, including developmental delay, cognitive deficits, and behavioral issues.

Observation:

  • A 15-year-old patient with undiagnosed neurological problems underwent serial MRI scans.
  • Initial clinical presentation was nonspecific, necessitating further diagnostic investigation.
  • Organic acid testing confirmed the diagnosis of L2HGA.

Findings:

  • Serial MRI scans revealed characteristic and evolving imaging features of L2HGA.
  • Key radiological findings, when recognized, can aid in diagnosing L2HGA.
  • The progression of imaging abnormalities correlated with disease advancement.

Implications:

  • Radiologists play a crucial role in identifying L2HGA through characteristic MRI findings.
  • Early recognition of radiological signs can expedite diagnosis in children with nonspecific neurological symptoms.
  • Understanding the temporal evolution of L2HGA imaging features improves patient management and diagnostic accuracy.

Keywords:
BrainImagingMRINeuroradiologyPaediatrics

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