A Case of Charcot-Marie-Tooth 1A Showing Atypical Clinical and Pathological Features.
- Author:
Dong Gyun HAN
1
;
Phil Za CHO
;
Im Seok KOH
;
Hee Kyung KWON
;
Seung Min KIM
;
Il Nam SUNWOO
;
Kwang Soo LEE
Author Information
1. Department of Neurology, National Medical Center.
- Publication Type:Case Report
- Keywords:
Charcot-Marie-Tooth disease;
Tomacula;
Genotype;
Phenotype
- MeSH:
Biopsy;
Charcot-Marie-Tooth Disease;
Child;
Female;
Genotype;
Humans;
Molecular Biology;
Muscle Weakness;
Myelin Sheath;
Nerve Fibers;
Neural Conduction;
Parents;
Peripheral Nervous System Diseases;
Phenotype;
Polymerase Chain Reaction;
Siblings;
Sural Nerve
- From:Journal of the Korean Neurological Association
2000;18(4):494-498
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
A 7 year-old girl presented with generalized muscle weakness and delayed motor development. She was able to stand up at 15 months and began to walk at 4 years of age. A nerve conduction study showed severe demyelinating neuropa-thy .There was no family history of peripheral neuropathy, and her parents and younger brother were clinically and electrophysiologically normal. A sural nerve biopsy showed moderate loss of myelinated fibers with onion-bulb forma-tions. Many teased nerve fibers revealed typical tomaculous changes. However the molecular genetic study of the patient confirms the duplication of 17p11.2-p22 on a polymerase chain reaction using D17S261 as a primer but not in her parents.
