광범위 뇌경색을 동반한 색소실조증 1예
- Alternative Title
- Incontinentia Pigmenti with Extensive Brain Infarction in a Newborn
- Abstract
- Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal multisystemic disorder with characteristic skin lesions. In addition to skin lesions, the teeth, nails, hair, eyes, and central nervous system are involved. Central nervous system involvement in the neonatal period may cause intellectual disabilities, severe neurologic impairment, or death. IP is associated with mutations in the NF-kappa B essential modulator gene located on chromosome Xq28 and is most commonly seen in female patients. We experienced one case of a newborn with multiple vesiculobullous skin lesions over the entire body after birth and partial seizures with secondary generalization. The brain magnetic resonance imaging showed extensive cerebral infarction, and retinal hemorrhage was observed in the fundus examination. The patient was clinically diagnosed with incontinentia pigmenti.
- All Author(s)
- J. H. Song
; H. Kim
- Issued Date
- 2020
- Type
- Article
- Keyword
- Incontinentia pigmenti; Cerebral infarction; Retinal hemorrhage; NEMO gene
- Publisher
- Soonchunhyang Medical Research Institute
- ISSN
- 2233-4289
; 2233-4297
- Citation Title
- Soonchunhyang Medical Science
- Citation Volume
- 26
- Citation Number
- 1
- Citation Start Page
- 48
- Citation End Page
- 52
- Language(ISO)
- kor
- DOI
- 10.15746/sms.20.014
- URI
- http://schca-ir.schmc.ac.kr/handle/2022.oak/2194
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