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[Infantile spasms as the first manifestation of propionic acidemia]

L Aldamiz-Echevarría Azuar1, J M Prats Viñas, P Sanjurjo Crespo

  • 1División de Metabolismo y Genética, Hospital de Cruces, Barakaldo, Bilbao, Spain. kaldamiz@hcru.osakidetza.net

Anales De Pediatria (Barcelona, Spain : 2003)
|December 6, 2005
PubMed

Insights

Propionic acidemia, a metabolic disorder, can present atypically with infantile spasms. Early vigabatrin treatment may protect the basal ganglia from damage in these unusual cases.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Propionic acidemia is an inherited metabolic disorder affecting amino acid and fatty acid metabolism.
  • It typically manifests shortly after birth with accumulation of toxic acid metabolites.
  • Clinical presentation can vary, with some cases appearing in young adulthood.

Observation:

  • A 3-year-old boy experienced atypical onset of propionic acidemia at 6 months with infantile spasms and a hypsarrhythmic EEG.
  • MRI revealed subarachnoidal space widening and hyperintensities in the basal ganglia (thalamus, globus pallidus, subthalamic nucleus).
  • Biochemical and genetic analyses confirmed propionic acidemia.

Findings:

  • The patient was treated with vigabatrin for infantile spasms.
  • Following specific propionic acidemia therapy, the patient is off anti-epileptic drugs with a normal EEG.
  • The basal ganglia lesions did not appear to cause irreversible damage.

Implications:

  • This case highlights an unusual presentation of propionic acidemia.
  • Vigabatrin treatment might offer neuroprotection against excitotoxic damage in the basal ganglia in propionic acidemia.
  • Early diagnosis and targeted therapy are crucial for managing metabolic disorders with neurological manifestations.

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