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Hereditary Neuropathy with
Liability to Pressure Palsies
(HNPP)
Case Study B
A 20-year-old male presented with a two-year history of transient weakness of the left hand and acute onset of bilateral foot drop. Electrophysiological examination showed abnormal diffuse nerve conductions and a diagnosis of isolated bilateral peroneal palsies was made. Motor nerve conduction velocities were mildly prolonged in multiple nerves. Subsequent clinical evaluation revealed normal strength, hypoactive deep tendon reflexes, pes cavus, enlarged ulnar nerves, and mild ichthyosis. Examinations in both parents were normal with the exception of pes cavus in the patient's mother. A differential diagnosis of X-linked Charcot-Marie-Tooth neuropathy with ichthyosis was suspected. DNA analysis on the patient and his parents detected a de novo deletion on chromosome 17p11.2-12, associated with the spontaneous occurrence of HNPP in this family. Based on molecular studies and electrophysiological examination the diagnosis of HNPP was made.
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