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

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 ven- tilation.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 reportThe 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.