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Neuropediatrics 1984; 15(3): 150-158
DOI: 10.1055/s-2008-1052360
© Georg Thieme Verlag KG Stuttgart · New York

Cortical Subacute Necrotizing Encephalomyelopathy

A Study of Two Patients with Mitochondrial DysfunctionJ.  Egger1 , J. R. Pincott1 , J.  Wilson2 , Magda  Erdohazi3
  • 1The Hospital for Sick Children, Great Ormond Street and Institute of Child Health, Guilford Street, London WC1, Great Britain
  • 2The Hospital for Sick Children, Great Ormond Street, London WC1, Great Britain
  • 3The Hospital for Sick Children, Great Ormond Street and The National Hospital, Queen Square, London WC1, Great Britain
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

Two patients are reported who presented with progressive impairment of neurological and intellectual function, and intractable fits. In both the disease ran a fluctuating course. There was evidence of mitochondrial dysfunction, serum levels of pyruvate and lactate being four to six times normal. Involvement of mitochondria in different organs was suggested by histochemical and ultrastructural investigations of muscle and heart tissue. The children died at nine years and twelve months, respectively. In both autopsy revealed cardiomyopathy and renal abnormalities. The brain showed severe lesions indistinguishable from subacute necrotizing encephalomyelopathy (SNE), the brunt of which was borne by the cortex.

Key words

Cortical SNE - Mitochondrial cytopathy