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Neuropediatrics 2006; 37(3): 137-141
DOI: 10.1055/s-2006-924555
Original Article

Georg Thieme Verlag KG Stuttgart · New York

Acute Flaccid Paralysis as Initial Symptom in 4 Patients with Novel E1α Mutations of the Pyruvate Dehydrogenase Complex

H. M. Strassburg1 , J. Koch2 , J. Mayr2 , W. Sperl2 , E. Boltshauser3
  • 1University Children's Hospital Würzburg, Germany
  • 2Children's Hospital, Paracelsus Private Medical University, Salzburg, Austria
  • 3University Children's Hospital, Zürich, Switzerland
Further Information

Publication History

Received: March 21, 2006

Accepted after Revision: August 8, 2006

Publication Date:
11 September 2006 (online)

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Abstract

We report on 4 boys from 3 families presenting initially in infancy with an acute onset of flaccid tetraparesis and areflexia, resembling Guillain-Barré syndrome (GBS). However, the cerebrospinal fluid (CSF) protein was normal, while serum and CSF lactate were elevated. All patients had recurrent similar episodes, usually associated with infections. Brain MRI showed T2 hyperintensities in the basal ganglia in two boys, in one of them at the first clinical presentation; the other one had a normal brain MRI during the first episode. A third boy had a normal MRI twice but an increased lactate peak in the basal ganglia in 1H‐MR spectroscopy. Motor nerve conduction velocities (NCV) were normal in all patients. Biochemical analyses of muscle tissue, performed in two patients, revealed a deficiency of the pyruvate dehydrogenase (PDH). Molecular genetic analysis of the X-chromosomal E1α subunit of PDH showed three new mutations in phylogenetically conserved areas of the protein: Glu358Lys in patient 1; Arg88Lys in patient 2 and 3 (brothers); and Leu216Ser in patient 4. In conclusion, children with “atypical GBS” should be evaluated for a mitochondrial disorder, including pyruvate dehydrogenase deficiency, even after a first episode.

Key words

Polyneuropathy - Guillain-Barré syndrome - mitochondrial disease - pyruvate dehydrogenase deficiency - E1α-mutation

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Prof. Dr. E. Boltshauser

University Children's Hospital

Steinwiesstrasse 75

8032 Zürich

Switzerland

Email: eugen.boltshauser@kispi.unizh.ch