Neuropediatrics 2001; 32(2): 104-106
DOI: 10.1055/s-2001-13878
Short Communication

Georg Thieme Verlag Stuttgart · New York

Mitochondrial Respiratory Chain Deficiency Revealed by Hypothermia

Florence Cholley1 , P. Edery1 , D. Ricquier3 , S. Peudenier4 , A. Slama2 , M. Tardieu1
  • 1 Service de Neurologie, Département de Pédiatrie, Hôpital Bicêtre, Rennes, France
  • 2 Laboratoire de Biochimie, Hôpital Bicêtre, Rennes, France
  • 3 CEREMOND/CNRS, Meudon, Rennes, France
  • 4 Service de Pédiatrie, Hôpital Sud, Rennes, France
Further Information

Publication History

Publication Date:
31 December 2001 (online)

We observed a 17-month-old girl with profound and initially isolated episodes of hypothermia. Thereafter, she developed growth delay, repetitive corneal and bone lesions. Persistent hyperlactataemia in plasma and in CSF prompted us to investigate respiratory chain enzymes. A deficit in respiratory chain complexes III and IV was demonstrated in isolated skeletal muscle mitochondria, circulating lymphocytes and fibroblasts by spectrophotometric and polarographic studies. Moreover, UCP3 mRNA expression in muscle was decreased.

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Dr. Marc Tardieu

Service de Neurologie
Département de Pédiatrie Hôpital de Bicêtre

78, rue du Général Leclerc

94275 Le Kremlin Bicêtre Cedex

France

Email: marc.tardieu@bct.ap-hop-paris.fr

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