Destructive encephalopathy in incontinentia pigmenti: A primary disorder?

Avinoam Shuper; R. Nick Bryan; Harvey S. Singer

doi:10.1016/0887-8994(90)90049-7

Destructive encephalopathy in incontinentia pigmenti: A primary disorder?

Avinoam Shuper, R. Nick Bryan, Harvey S. Singer

School of Medicine

Research output: Contribution to journal › Article › peer-review

40 Scopus citations

Abstract

A 3-day-old infant with incontinentia pigmenti presented with acute encephalopathy associated with neuroradiographic findings of hemorrhagic necrosis and brain edema. No specific infectious, inflammatory, vascular, or metabolic abnormality was identified. We speculate that there is a variably expressed mutant protein in incontinentia pigmenti that could cause either developmental brain malformations or a destructive process.

Original language	English (US)
Pages (from-to)	137-140
Number of pages	4
Journal	Pediatric Neurology
Volume	6
Issue number	2
DOIs	https://doi.org/10.1016/0887-8994(90)90049-7
State	Published - Jan 1 1990

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Neurology
Developmental Neuroscience
Clinical Neurology

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10.1016/0887-8994(90)90049-7

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title = "Destructive encephalopathy in incontinentia pigmenti: A primary disorder?",

abstract = "A 3-day-old infant with incontinentia pigmenti presented with acute encephalopathy associated with neuroradiographic findings of hemorrhagic necrosis and brain edema. No specific infectious, inflammatory, vascular, or metabolic abnormality was identified. We speculate that there is a variably expressed mutant protein in incontinentia pigmenti that could cause either developmental brain malformations or a destructive process.",

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N2 - A 3-day-old infant with incontinentia pigmenti presented with acute encephalopathy associated with neuroradiographic findings of hemorrhagic necrosis and brain edema. No specific infectious, inflammatory, vascular, or metabolic abnormality was identified. We speculate that there is a variably expressed mutant protein in incontinentia pigmenti that could cause either developmental brain malformations or a destructive process.

AB - A 3-day-old infant with incontinentia pigmenti presented with acute encephalopathy associated with neuroradiographic findings of hemorrhagic necrosis and brain edema. No specific infectious, inflammatory, vascular, or metabolic abnormality was identified. We speculate that there is a variably expressed mutant protein in incontinentia pigmenti that could cause either developmental brain malformations or a destructive process.

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Destructive encephalopathy in incontinentia pigmenti: A primary disorder?

Abstract

ASJC Scopus subject areas

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