A Case of Incontinentia Pigmenti with Developmental Brain Malformation
Journal of the Korean Pediatric Society
;
: 535-539, 2002.
Article
in Korean
| WPRIM
| ID: wpr-71305
ABSTRACT
Incontinentia pigmenti is a rare neurocutaneous syndrome characterized by vesiculobullous skin disease in neonates and infants, a noninfectious disease that should be distinguished from infectious diseases with the neonatal seizure or encephalopathy. This disease is X-linked dominant with Xq28 region abnormalities and often associated with developmental defects of the ocular, skeletal, dental, and central nervous system. Central nervous system involvement in the neonatal period, or complicated by encephalopathy, may cause severe neurologic impairment, retardation or even death. We experienced a case of incontinentia pigmenti in a three-day-old female patient who had characteristic papulovesicular skin lesions and partial seizures with secondary generalization. Histopathological examination favored the diagnosis of incontinentia pigmenti and a brain MRI showed undifferentiated white matters with periventricular nodular lesions.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Seizures
/
Skin
/
Incontinentia Pigmenti
/
Brain
/
Magnetic Resonance Imaging
/
Central Nervous System
/
Communicable Diseases
/
Skin Diseases, Vesiculobullous
/
Neurocutaneous Syndromes
/
Diagnosis
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Infant
/
Infant, Newborn
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
2002
Type:
Article
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