Peripheral Neuropathy in Cardiofaciocutaneous Syndrome

DeRoos, Steven T.; Ryan, Monique M.; Ouvrier, Robert A.

doi:10.1016/j.pediatrneurol.2006.12.004

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Volume 36, Issue 4 , Pages 250-252, April 2007

Peripheral Neuropathy in Cardiofaciocutaneous Syndrome

Steven T. DeRoos, MD
- Institute for Neuromuscular Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia
- Division of Child Neurology, DeVos Children’s Hospital, Grand Rapids, Michigan
- Communications should be addressed to: Dr. DeRoos; Division of Child Neurology; DeVos Children’s Hospital; 1300 Michigan, Suite 102; Grand Rapids, MI 49503.
Monique M. Ryan, MB, BS
- Institute for Neuromuscular Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia
- Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia.
Robert A. Ouvrier, MD
- Institute for Neuromuscular Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia
- Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia.

Received 16 August 2006; accepted 4 December 2006.

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.