Hereditary Neuropathy with Liability to Pressure Palsy in a Family: A Case Report.
- Author:
Young Min SHON
1
;
Byung Joon KIM
;
Jong Won KIM
Author Information
1. Department of Neurology, Samsung Medical Center, Sungkyunkwan University, School of Medicine.
- Publication Type:Case Report
- Keywords:
Hereditary neuropathy with liability to pressure palsy;
Peripheral myelin protein 22 gene;
Deletion
- MeSH:
Arm;
Child, Preschool;
DNA;
Extremities;
Head;
Humans;
Male;
Mothers;
Myelin Sheath;
Paralysis*;
Polyneuropathies;
Reflex, Stretch;
Upper Extremity
- From:Journal of the Korean Neurological Association
1999;17(6):912-915
- CountryRepublic of Korea
- Language:Korean
-
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.
