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Neuropediatrics 1986; 17(2): 75-80
DOI: 10.1055/s-2008-1052505
© Georg Thieme Verlag KG Stuttgart · New York

Progressive Neuronal Degeneration of Childhood with Liver Disease("Alpers' Disease"): Characteristic Neurophysiological Features

S. G. Boyd1 , Ann  Harden2 , J.  Egger3 , G.  Pampiglione4
  • 1Department of Clinical Neurophysiology, The Hospital for Sick Children, Great Ormond Street, London WC1, Great Britain
  • 2Department of Clinical Neurophysiology, The Hospital for Sick Children, Great Ormond Street, London WC 1, Great Britain
  • 3The Hospital for Sick Children, Great Ormond Street and Institute of Child Health, Guilford Street, London WC 1, Great Britain
  • 4Department of Clinical Neurophysiology, The Hospital for Sick Children, Great Ormond Street, London WC 1, Great Britain
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

A clinico-pathological entity of progressive neuronal degeneration of childhood with liver disease has now been recognised. Onset is in early childhood with intractable fits and progressive dementia. EEG/ERG/VEP studies have been carried out in 12 children with this condition. In most patients the EEG showed strikingly similar and unusual abnormal patterns (high amplitude slow activity together with smaller polyspikes). The flash VEP was usually abnormal and often asymmetrical. In the appropriate clinical setting the neurophysiological features are sufficiently characteristic to aid the clinician in early diagnosis of this autosomal recessive disorder.

Key words

Childhood - Neuronal degeneration - Liver disease - EEG/ERG/VEP