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J Korean Neurol Assoc. 1999;17(6):912-915.
- Hereditary Neuropathy with Liability to Pressure Palsy in a Family:
A Case Report
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Young-Min Shon, M.D., B. Joon Kim, M.D., Jong-Won Kim, M.D.*
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Department of Neurology and Clinical Pathology*,
Samsung Medical Center, Sungkyunkwan University, School of Medicine
- 유전성 압박마비 편향 신경병증 가족 1예
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손영민, 김병준 ·김종원*
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성균관대학교 의과대학 삼성서울병원 신경과,임상병리과*
- 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. J Korean Neurol Assoc 17(6):912~915, 1999 Key Words : Hereditary neuropathy with liability to pressure palsy, Peripheral myelin protein 22 gene, Deletion
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- 초록
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