CONGENITAL PERIPHERAL NEUROPATHY PRESENTING AS APNEA AND RESPIRATORY INSUFFICIENCY

A seven-week-old girl presented with recurrent apnoeic episodes and re spiratory insufficiency. The child was hypotonic, weak, areflexic and had a paradoxical movement of the right hemidiaphragm. Cranial nerve a nd sphincter function was normal; there was no fasciculation. Nerve co nduction studies showed a severe axonal sensory and motor peripheral n europathy. Biopsy of the sural nerve revealed marked axonal atrophy. T he infant is now over two years of age, is ventilator-dependent and ha s clinical and electrophysiological evidence of further progression of one of the earliest reported presentations of a congenital peripheral neuropathy.