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Hereditary Neuropathy with
Liability to Pressure Palsies
(HNPP)
Case Study A
A 9-year-old female presented with an acute onset of a left foot drop. Five years previously she had experienced right foot drop. She had made minimal recovery of her peroneal palsy when seen again six weeks later. Neither parent had signs of weakness, atrophy, or sensory disturbances, nor did they have a history of pressure palsies. A maternal grandfather had experienced an episode of bilateral foot drop in his twenties and was diagnosed as having Charcot-Marie-Tooth (CMT) neuropathy. Neurological examination revealed weakness of dorsiflexion of the left foot and decreased motor nerve conduction velocity (NCV) in the left peroneal nerve. Her neurological examination was otherwise normal. Isolated peroneal palsy and CMT were the differential diagnosis. NCVs were measured and DNA analysis for HNPP was performed. The child, her mother, and her maternal grandfather all had positive results. Based on molecular studies and the electrophysiological examination, the diagnosis of HNPP was made. Learn more >>
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