J Korean Neurol Assoc.  1999 Nov;17(6):912-915.

Hereditary Neuropathy with Liability to Pressure Palsy in a Family: A Case Report

• Shon YM
• Kim BJ
• Kim JW

Abstract

We report a family with autosomal dominant hereditary neuropathy having a liability to pressure palsy, which was confirmed by DNA analysis. A 5-year-old boy had been suffering from a left upper extremity weakness after falling sleeping with his head on his arm. Upon examination 2 months after the episode, the boy reported that he had a mild weakness on the left distal portion of his arm. Deep tendon reflexes on both the upper extremities were absent. He did not have any sensory disturbances. No definite family history of recurrent pressure palsy was taken. A nerve conduc-tion study and EMG demonstrated a widespread demyelinating sensorimotor polyneuropathy in all extremities. We analyzed DNA deletion, which revealed an abnormal deletion of the peripheral myelin protein 22 (PMP-22) gene in the chromosome 17p11.2. Of the patient and his mother.

Keyword

Hereditary neuropathy with liability to pressure palsy; Peripheral myelin protein 22 gene; Deletion

MeSH Terms

Arm
Child, Preschool
DNA
Extremities
Head
Humans
Male
Mothers
Myelin Sheath
Paralysis*
Polyneuropathies
Reflex, Stretch
Upper Extremity
DNA