Literature DB >> 18241293

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

Ne-Ron Loh1, Lyda P Jadresic, Andrew Whitelaw.   

Abstract

UNLABELLED: 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 NFkappaB 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.

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Year:  2008        PMID: 18241293     DOI: 10.1111/j.1651-2227.2007.00630.x

Source DB:  PubMed          Journal:  Acta Paediatr        ISSN: 0803-5253            Impact factor:   2.299


  2 in total

1.  Cerebral Arteriopathy in a Newborn With Incontinentia Pigmenti.

Authors:  Sarah B Mulkey; Raghu H Ramakrishnaiah; Tonya M Balmakund
Journal:  Pediatr Neurol       Date:  2015-09-21       Impact factor: 3.372

Review 2.  Incontinentia pigmenti.

Authors:  Cláudia Schermann Poziomczyk; Júlia Kanaan Recuero; Luana Bringhenti; Fernanda Diffini Santa Maria; Carolina Wiltgen Campos; Giovanni Marcos Travi; André Moraes Freitas; Marcia Angelica Peter Maahs; Paulo Ricardo Gazzola Zen; Marilu Fiegenbaum; Sheila Tamanini de Almeida; Renan Rangel Bonamigo; Ana Elisa Kiszewski Bau
Journal:  An Bras Dermatol       Date:  2014 Jan-Feb       Impact factor: 1.896

  2 in total

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