J Korean Neurol Assoc.
1998 Oct;16(5):732-738.
None uniformity of muscle pathology in Becker muscular dystrophy
- Affiliations
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- 1Department of Neurology, Yonsei University Medical College Department of Neurology, Inje University, Sanggye Baik Hospital.
- 2Department of Pediatrics, Yonsei University Medical College Department of Neurology, Inje University, Sanggye Baik Hospital.
- 3Department of Patholgy, Yonsei University Medical College Department of Neurology, Inje University, Sanggye Baik Hospital.
- 4Department of Clinical research center, Yonsei University Medical College Department of Neurology, Inje University, Sanggye Baik Hospital.
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.
MeSH Terms
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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
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