title: Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency.
abstract: 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.
authors.affiliation: Royal Liverpool Children's NHS Trust, UK.
authors.forename: R
authors.initials: R
authors.lastname: Appleton
authors.forename: A
authors.initials: A
authors.lastname: Riordan
authors.forename: B
authors.initials: B
authors.lastname: Tedman
authors.forename: J
authors.initials: J
authors.lastname: MacKenzie
authors.forename: T
authors.initials: T
authors.lastname: Helliwell
mesh_terms: D001049:Apnea / Q000175:diagnosis* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D010523:Peripheral Nervous System Diseases / Q000151:congenital* / Q000175:diagnosis* / Q000503:physiopathology; D012131:Respiratory Insufficiency / Q000175:diagnosis* / Q000503:physiopathology