title: Peripheral neuropathy in cardiofaciocutaneous syndrome.
abstract: A young adult male with cardiofaciocutaneous syndrome developed gait deterioration in childhood, with later evolution of distal wasting. His physical examination revealed intention tremor, distal weakness of the upper limbs with atrophy of the thenar, hypothenar, and interossei muscles, a wide-based gait, and large-fiber sensory loss in all limbs. Neuroimaging revealed stable mild chronic communicating hydrocephalus. Nerve conduction studies and electromyography demonstrated a moderately severe axonal neuropathy. The present case is, to our knowledge, the first reported case of peripheral neuropathy in association with cardiofaciocutaneous syndrome. The latter is a rare disorder, with significant comorbidities, in which a peripheral neuropathy may be under-recognized as a late cause of functional deterioration.
authors: Institute for Neuromuscular Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia. steven.deroos@devoschildrens.org <steven.deroos@devoschildrens.org>
authors: Steven T
authors: ST
authors: DeRoos
authors: Monique M
authors: MM
authors: Ryan
authors: Robert A
authors: RA
authors: Ouvrier
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D019465:Craniofacial Abnormalities / Q000473:pathology*; D005124:Eye Abnormalities / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D008297:Male; D009133:Muscular Atrophy / Q000473:pathology; D009431:Neural Conduction; D010523:Peripheral Nervous System Diseases / Q000473:pathology*; D012868:Skin Abnormalities / Q000473:pathology*; D013577:Syndrome