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Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase

H M Strassburg1, J Koch, J Mayr

  • 1University Children's Hospital Würzburg, Germany.

Neuropediatrics
|September 13, 2006
PubMed

Insights

Pyruvate dehydrogenase deficiency can mimic Guillain-Barré syndrome in infants. Early evaluation for this mitochondrial disorder is crucial, even with initial normal findings.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Infantile onset of acute flaccid tetraparesis and areflexia can resemble Guillain-Barré syndrome (GBS).
  • Distinguishing GBS from other neurological conditions with similar presentations is critical for appropriate management.

Observation:

  • Four boys from three families presented with recurrent episodes of flaccid tetraparesis and areflexia.
  • Elevated serum and cerebrospinal fluid (CSF) lactate levels were observed, with normal CSF protein.
  • Brain MRI revealed basal ganglia hyperintensities in some patients, while motor nerve conduction velocities remained normal.

Findings:

  • Muscle tissue analysis identified pyruvate dehydrogenase (PDH) deficiency in two patients.
  • Genetic analysis uncovered three novel mutations in the X-chromosomal E1alpha subunit of PDH.
  • These mutations were located in phylogenetically conserved regions of the PDH protein.

Implications:

  • Children presenting with atypical GBS symptoms warrant investigation for mitochondrial disorders, specifically PDH deficiency.
  • This highlights the importance of considering metabolic causes in unexplained neurological presentations in infancy.
  • Timely diagnosis of PDH deficiency enables appropriate supportive care and genetic counseling.

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