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Menkes kinky hair disease: A case report

An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. The infan...

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Detalles Bibliográficos
Autores principales: Datta, Asok K, Ghosh, Taraknath, Nayak, Kaustav, Ghosh, Mrinalkanti
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2559824/
https://www.ncbi.nlm.nih.gov/pubmed/18801184
http://dx.doi.org/10.1186/1757-1626-1-158
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author Datta, Asok K
Ghosh, Taraknath
Nayak, Kaustav
Ghosh, Mrinalkanti
author_facet Datta, Asok K
Ghosh, Taraknath
Nayak, Kaustav
Ghosh, Mrinalkanti
author_sort Datta, Asok K
collection PubMed
description An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. He had also mental retardation. Serum copper and ceruloplasmin levels were low, MRI showed prominent extraaxial spaces with gliosis, MR angiography revealed tortuosity of cerebral vessels. Microscopic examination of hair revealed pili torti. The patient was diagnosed as Menkes disease and treated symptomatically. For lack of facilities we were not able to do genetic study.
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spelling pubmed-25598242008-10-03 Menkes kinky hair disease: A case report Datta, Asok K Ghosh, Taraknath Nayak, Kaustav Ghosh, Mrinalkanti Cases J Case Report An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. He had also mental retardation. Serum copper and ceruloplasmin levels were low, MRI showed prominent extraaxial spaces with gliosis, MR angiography revealed tortuosity of cerebral vessels. Microscopic examination of hair revealed pili torti. The patient was diagnosed as Menkes disease and treated symptomatically. For lack of facilities we were not able to do genetic study. BioMed Central 2008-09-18 /pmc/articles/PMC2559824/ /pubmed/18801184 http://dx.doi.org/10.1186/1757-1626-1-158 Text en Copyright © 2008 Datta et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Datta, Asok K
Ghosh, Taraknath
Nayak, Kaustav
Ghosh, Mrinalkanti
Menkes kinky hair disease: A case report
title Menkes kinky hair disease: A case report
title_full Menkes kinky hair disease: A case report
title_fullStr Menkes kinky hair disease: A case report
title_full_unstemmed Menkes kinky hair disease: A case report
title_short Menkes kinky hair disease: A case report
title_sort menkes kinky hair disease: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2559824/
https://www.ncbi.nlm.nih.gov/pubmed/18801184
http://dx.doi.org/10.1186/1757-1626-1-158
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