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Neuropediatrics 2004; 35(4): 255-258
DOI: 10.1055/s-2004-821036
Short Communication

Georg Thieme Verlag KG Stuttgart · New York

Follow-Up of a Child with Hypoacetylaspartia

E. Boltshauser1 , B. Schmitt1 , R. A. Wevers2 , U. Engelke2 , A. B. Burlina3 , A. P. Burlina4
  • 1Department of Neurology, University Children's Hospital, Zurich, Switzerland
  • 2University Medical Centre, Laboratory of Paediatrics and Neurology, Nijmegen, The Netherlands
  • 3Department of Paediatrics, University Hospital, Padua, Italy
  • 4Department of Neuroscience, University Hospital, Padua, Italy
Further Information

Publication History

Received: March 6, 2004

Accepted after Revision: May 8, 2004

Publication Date:
14 July 2004 (online)

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Abstract

We provide a 5-year follow-up of a patient previously reported to have no NAA signal on neurospectroscopy. At 8 years this boy was found to have profound neurological dysfunction: he had truncal ataxia, no expressive speech, behaviour abnormalities, secondary microcephaly and cognitive achievements corresponding to less than 12 months of age. He started to have generalized seizures at 5 years 9 months. Although not directly proven we assume an inborn error of NAA metabolism, possibly a defect of the anabolic enzyme L-aspartate N-acetyltransferase (EC 2.3.1.17).

Key words

Magnetic resonance imaging - magnetic resonance spectroscopy - N-acetylaspartate - N-acetylaspartylglutamate - capillary electrophoresis - hypoacetylaspartia

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M.D. E. Boltshauser

Department of Neurology
University Children's Hospital

Steinwiesstraße 75

8032 Zurich

Switzerland

Email: eugen.boltshauser@kispi.unizh.ch