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.
Appleton
R
R
Royal Liverpool Children's NHS Trust, UK.
Riordan
A
A
Tedman
B
B
MacKenzie
J
J
Helliwell
T
T
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