Investigation of a family with hypertrophic neuropathy resembling Roussy‐Levy syndrome

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Abstract
An investigation was made of a family with a hypertrophic neuropathy resembling Roussy-Levy syndrome. The primary clinical features of the disease were: pattern of inheritance compatible with autosomal dominance; onset in infancy; slow and unsteady progression with minimal disability and normal life expectancy; absent deep tendon reflexes; pes cavus; weakness in dorsiflexion of the feet and toes; limb dyssynergia; difficulty with equilibrium; intention tremor; and mild sensory abnormalities. Motor nerve conduction velocities were severely diminished in affected family members. His-topathologic examination of sural nerves showed onion bulb formations typically seen in hypertrophic neuropathies, and phospholipid analysis of sural nerve specimens showed changes indicative of demyelination. The data in this kinship support the hypothesis that Roussy-Levy syndrome is distinct from Charcot-Marie-Tooth disease.

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