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D-glyceric aciduria in a six-month-old boy presenting with West syndrome and autistic behaviour

M Topcu1, I Saatci, G Haliloglu

  • 1Department of Pediatric Neurology, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey. mtopcu@gen.hun.edu.tr

Neuropediatrics
|April 4, 2002
PubMed

Insights

D-Glyceric aciduria, a rare metabolic disorder, can present with severe neurological symptoms like West syndrome and autistic behavior. Dietary fructose restriction may help reverse brain abnormalities in affected infants.

Area of Science:

  • Biochemistry
  • Neurology
  • Metabolic Disorders

Background:

  • D-Glyceric aciduria is characterized by elevated D-glyceric acid excretion.
  • Clinical manifestations are highly variable, ranging from asymptomatic to severe neurological impairment.
  • Previous reports detail symptoms like seizures, hypotonia, and failure to thrive.

Observation:

  • A six-month-old boy presented with developmental delay, seizures, and autistic behavior.
  • Electroencephalogram (EEG) showed hypsarrhythmia, indicative of epileptic activity.
  • Urine organic acid analysis confirmed increased glyceric acid, with polarimetry specifying the D-isomer.

Findings:

  • The patient exhibited West syndrome and autistic behavior, a novel presentation for D-glyceric aciduria.
  • Cerebral MRI revealed white matter lesions, frontotemporal atrophy, and reversible mesencephalic, thalamic, and globus pallidus abnormalities.
  • These MRI abnormalities resolved following dietary fructose restriction.

Implications:

  • This case highlights the potential for D-glyceric aciduria to manifest as West syndrome and autistic behavior.
  • Serial MRI findings demonstrate the reversibility of certain brain lesions with dietary intervention.
  • Early diagnosis and management, including fructose restriction, may be crucial for improving outcomes in D-glyceric aciduria.

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