A Case of CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) Diagnosed by Skin Biopsy.
- Author:
Nark Kyoung RHO
1
;
Suk Jin CHOI
;
Eil Soo LEE
Author Information
1. Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. eslee@smc.samsung.co.kr
- Publication Type:Case Report
- Keywords:
CADASIL;
Skin biopsy;
Electron microscopy
- MeSH:
Biopsy*;
CADASIL*;
Diagnosis;
Humans;
Microscopy, Electron;
Migraine Disorders;
Mood Disorders;
Nervous System Diseases;
Neurology;
Skin*;
Stroke
- From:Korean Journal of Dermatology
2002;40(9):1136-1138
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
CADASIL(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a rare genetic disease inherited in an autosomal dominant manner, which is characterized by migraine, strokes, mood disorders, and progressive cognitive disorders. With the aid of skin biopsy and electron microscopic examination, recently we have confirmed a diagnosis of CADASIL in a patient from neurology department. Although CADASIL does not present any cutaneous manifestations, dermatologists need to be aware of this rare neurologic disorder because characteristic electron microscopic findings on a skin biopsy specimen are diagnostic.