Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency

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