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Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature

Incontinentia pigmenti (IP) or Bloch–Sulzberger’s disease is a rare neurocutaneous syndrome with dermatological, neurologic, and systemic manifestations including retinal, dental and hair abnormalities. It follows X-linked dominant inheritance and predominantly affects female children. The character...

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Autores principales: Sharawat, Indar Kumar, Panda, Prateek Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical and Scientific Publishers Private Ltd. 2020
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195961/
https://www.ncbi.nlm.nih.gov/pubmed/32367988
http://dx.doi.org/10.1055/s-0040-1709246
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author Sharawat, Indar Kumar
Panda, Prateek Kumar
author_facet Sharawat, Indar Kumar
Panda, Prateek Kumar
author_sort Sharawat, Indar Kumar
collection PubMed
description Incontinentia pigmenti (IP) or Bloch–Sulzberger’s disease is a rare neurocutaneous syndrome with dermatological, neurologic, and systemic manifestations including retinal, dental and hair abnormalities. It follows X-linked dominant inheritance and predominantly affects female children. The characteristic evolution of skin lesions in four stages is a hallmark diagnostic feature of the disease. The pigmented lesions of IP are usually distributed in linear streaks, macular whorls, reticulated patches, and flecks along the Blaschko lines. Neurologic morbidities are found in a considerable proportion of affected children, and the spectrum includes seizures, neuromotor impairment, microcephaly, developmental delay, and intellectual disability. Seizures are reported in 10% to 25% of children with IP in various previous clinical studies. The majority of these children had seizures in the neonatal period or early infancy, and focal–clonic seizure is the commonest observed semiology. However, there are only a few case reports of infants with IP with epileptic spasms. In this report, the clinical course of a 6-month-old girl with IP and epileptic spasms has been described, who responded favorably to treatment with adrenocorticotropic hormone injection. Clinicians managing children with IP should be aware of their predisposition to develop epileptic spasms and consider neuroimaging, electroencephalogram, and other investigations accordingly.
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spelling pubmed-71959612020-05-04 Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature Sharawat, Indar Kumar Panda, Prateek Kumar J Neurosci Rural Pract Incontinentia pigmenti (IP) or Bloch–Sulzberger’s disease is a rare neurocutaneous syndrome with dermatological, neurologic, and systemic manifestations including retinal, dental and hair abnormalities. It follows X-linked dominant inheritance and predominantly affects female children. The characteristic evolution of skin lesions in four stages is a hallmark diagnostic feature of the disease. The pigmented lesions of IP are usually distributed in linear streaks, macular whorls, reticulated patches, and flecks along the Blaschko lines. Neurologic morbidities are found in a considerable proportion of affected children, and the spectrum includes seizures, neuromotor impairment, microcephaly, developmental delay, and intellectual disability. Seizures are reported in 10% to 25% of children with IP in various previous clinical studies. The majority of these children had seizures in the neonatal period or early infancy, and focal–clonic seizure is the commonest observed semiology. However, there are only a few case reports of infants with IP with epileptic spasms. In this report, the clinical course of a 6-month-old girl with IP and epileptic spasms has been described, who responded favorably to treatment with adrenocorticotropic hormone injection. Clinicians managing children with IP should be aware of their predisposition to develop epileptic spasms and consider neuroimaging, electroencephalogram, and other investigations accordingly. Thieme Medical and Scientific Publishers Private Ltd. 2020-04 2020-04-04 /pmc/articles/PMC7195961/ /pubmed/32367988 http://dx.doi.org/10.1055/s-0040-1709246 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited.
spellingShingle Sharawat, Indar Kumar
Panda, Prateek Kumar
Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature
title Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature
title_full Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature
title_fullStr Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature
title_full_unstemmed Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature
title_short Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature
title_sort epileptic spasms in an infant with incontinentia pigmenti: report of a rare case with brief review of the literature
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195961/
https://www.ncbi.nlm.nih.gov/pubmed/32367988
http://dx.doi.org/10.1055/s-0040-1709246
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