Education And Debate

A Difficult Case: Home ventilation of a child with motor and sensory neuropathy

BMJ 1996; 313 doi: (Published 20 July 1996) Cite this as: BMJ 1996;313:153
  1. R H Davies, consultant paediatrician with an interest in community paediatricsa
  1. aGwynedd Community Health Trust, Women and Children's Business Unit Headquarters, Caernarfon LL55 1BH

    A paediatrician describes a young child who was eventually diagnosed as having autosomal recessive hereditary motor and sensory neuropathy type III and the uncertainties surrounding the decision to support the child at home on domiciliary ventilation. The child's mother gives her reaction to the decision, and we also invited comments from a public health physician, a nurse, and an intensive care paediatrician.

    Case report

    The child, a girl, was born at 37 weeks' gestation by elective caesarean section because of severe intrauterine growth retardation. Her birth weight was 1830 g. She spent the first two weeks in a special care baby unit, and there was difficulty in establishing feeding. She smiled at 9 weeks and was aware of her environment and people. Throughout her life her cognitive development was always normal. However, from 3-6 months of age she made no attempt to lift her head or to roll and she could not sit even when supported. She appeared to feed normally, but at 6 months she was failing to thrive. She was the third of her parents' three children. There was no family history of neurological disease.

    The child was not known to be seriously unwell until she was admitted to a district general hospital paediatric ward when 6 months old with respiratory distress. Pneumonia was diagnosed and confirmed by chest radiograph. Then it became apparent that she had widespread muscular weakness and that she was in respiratory failure because of weakness of the respiratory muscles. She was admitted to the intensive care unit, paralysed, sedated, and ventilated. An underlying neuromuscular problem was diagnosed, …

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