A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation

NR Loh; LP Jadresic; A Whitelaw

doi:10.1111/j.1651-2227.2007.00630.x

A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation

NR Loh, LP Jadresic, A Whitelaw

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Abstract

Incontinentia pigmenti (IP) is not generally recognized as a cause of neonatal encephalopathy. A full-term infant developed a rash and encephalopathy with lesions in the basal ganglia and periventricular white matter 3 days after a normal delivery. Typical skin changes of IP were confirmed by histology and mutation analysis of the NFκB essential modulator (NEMO) gene. Conclusion: The mechanism of brain injury appears to be increased apoptosis after inflammation and this condition should be included in differential diagnosis of neonatal encephalopathy if skin lesions are present.

Translated title of the contribution	A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation
Original language	English
Pages (from-to)	379 - 381
Number of pages	3
Journal	Acta Paediatrica
Volume	97 (3)
DOIs	https://doi.org/10.1111/j.1651-2227.2007.00630.x
Publication status	Published - Mar 2008

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Publisher: Blackwell

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title = "A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation",

abstract = "Incontinentia pigmenti (IP) is not generally recognized as a cause of neonatal encephalopathy. A full-term infant developed a rash and encephalopathy with lesions in the basal ganglia and periventricular white matter 3 days after a normal delivery. Typical skin changes of IP were confirmed by histology and mutation analysis of the NFκB essential modulator (NEMO) gene. Conclusion: The mechanism of brain injury appears to be increased apoptosis after inflammation and this condition should be included in differential diagnosis of neonatal encephalopathy if skin lesions are present.",

author = "NR Loh and LP Jadresic and A Whitelaw",

note = "Publisher: Blackwell",

year = "2008",

month = mar,

doi = "10.1111/j.1651-2227.2007.00630.x",

language = "English",

volume = "97 (3)",

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journal = "Acta Paediatrica",

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T1 - A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation

AU - Loh, NR

AU - Jadresic, LP

AU - Whitelaw, A

N1 - Publisher: Blackwell

PY - 2008/3

Y1 - 2008/3

N2 - Incontinentia pigmenti (IP) is not generally recognized as a cause of neonatal encephalopathy. A full-term infant developed a rash and encephalopathy with lesions in the basal ganglia and periventricular white matter 3 days after a normal delivery. Typical skin changes of IP were confirmed by histology and mutation analysis of the NFκB essential modulator (NEMO) gene. Conclusion: The mechanism of brain injury appears to be increased apoptosis after inflammation and this condition should be included in differential diagnosis of neonatal encephalopathy if skin lesions are present.

AB - Incontinentia pigmenti (IP) is not generally recognized as a cause of neonatal encephalopathy. A full-term infant developed a rash and encephalopathy with lesions in the basal ganglia and periventricular white matter 3 days after a normal delivery. Typical skin changes of IP were confirmed by histology and mutation analysis of the NFκB essential modulator (NEMO) gene. Conclusion: The mechanism of brain injury appears to be increased apoptosis after inflammation and this condition should be included in differential diagnosis of neonatal encephalopathy if skin lesions are present.

U2 - 10.1111/j.1651-2227.2007.00630.x

DO - 10.1111/j.1651-2227.2007.00630.x

M3 - Article (Academic Journal)

C2 - 18241293

SN - 1651-2227

VL - 97 (3)

SP - 379

EP - 381

JO - Acta Paediatrica

JF - Acta Paediatrica

ER -

A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation

Abstract

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