None uniformity of muscle pathology in Becker muscular dystrophy.
- Author:
Byung Ok CHOI
1
;
Il Nam SUNWOO
;
Jin Sung LEE
;
Soong Hyun LEE
;
Tae Seung KIM
;
Kyung Ho PARK
Author Information
1. Department of Neurology, Yonsei University Medical College Department of Neurology, Inje University, Sanggye Baik Hospital.
- Publication Type:Original Article
- Keywords:
incontinentia pigmenti;
hyperpigmented skin lesion;
destructive encephalopathy
- MeSH:
Biopsy;
Brain;
Central Nervous System;
Cerebellar Ataxia;
Diagnosis;
Electroencephalography;
Female;
Generalization (Psychology);
Humans;
Incontinentia Pigmenti;
Intellectual Disability;
Magnetic Resonance Imaging;
Microcephaly;
Muscle Spasticity;
Muscular Dystrophy, Duchenne*;
Neurocutaneous Syndromes;
Paralysis;
Pathology*;
Seizures;
Skin;
Thigh
- From:Journal of the Korean Neurological Association
1998;16(5):732-738
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Incontinentia pigmenti (IP) is a rare hereditary neurocutaneous syndrome characterized by typical linear hyperpigmentationed skin lesions, often associated with central nervous system (CNS) involvement, dysplasia in dental and skeletal system, and ocular abnormalities. Thirty to fifty percent of the patients suffer CNS complications such as mental retardation, seizures, spastic paralysis, microcephaly, and cerebellar ataxia. We experienced a case of incontinentia pigmenti in three-month-old female patient who had characteristic linear hyperpigmented skin lesion on both her thighs and partial seizure with secondary generalization. She had family history of typical skin lesions on her maternal relatives. She showed abnormal findings on EEG as well as multiple necrotic lesions on brain MRI. Confirm diagnosis of incontinentia pigmenti was made by skin biopsy.
