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Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease

Menkes kinky hair disease is a rare X-linked recessive disease nearly exclusively affecting males who present at 2-3 months of age due to abnormal functioning of copper-dependent enzymes due to deficiency of copper. Here, we describe a completely worked-up case of a 4-month-old male infant with very...

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Autores principales: Gandhi, Rozil, Kakkar, Ritu, Rajan, Sajeev, Bhangale, Rashmi, Desai, Shrinivas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420100/
https://www.ncbi.nlm.nih.gov/pubmed/22919529
http://dx.doi.org/10.1155/2012/684309
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author Gandhi, Rozil
Kakkar, Ritu
Rajan, Sajeev
Bhangale, Rashmi
Desai, Shrinivas
author_facet Gandhi, Rozil
Kakkar, Ritu
Rajan, Sajeev
Bhangale, Rashmi
Desai, Shrinivas
author_sort Gandhi, Rozil
collection PubMed
description Menkes kinky hair disease is a rare X-linked recessive disease nearly exclusively affecting males who present at 2-3 months of age due to abnormal functioning of copper-dependent enzymes due to deficiency of copper. Here, we describe a completely worked-up case of a 4-month-old male infant with very typical history and radiological features confirmed by biochemical and trichoanalysis. The initially seen asymmetric cortical and subcortical T2 hyperintensities in cerebral and cerebellar hemispheres converted into symmetrical diffuse cerebral and predominantly cerebellar atrophy with uniform loss of both white and grey matter on follow-up MRI. Also, subdural hemorrhages of various sizes and different stages and tortuosity of larger proximal intracranial vessels with distal narrowing were identified. Ours is a completely worked-up proven case of Menkes kinky hair disease (MKHD) with history, electroencephalography, biochemical, trichoanalysis, and MRI findings. This is a good teaching case and shows importance of clinical examination and biochemistry as complimentary to MRI. Tortuous intracranial arteries with blocked major vessels are found only in this disease, thus stressing the value of MR Angiography in these patients.
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spelling pubmed-34201002012-08-23 Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease Gandhi, Rozil Kakkar, Ritu Rajan, Sajeev Bhangale, Rashmi Desai, Shrinivas Case Rep Radiol Case Report Menkes kinky hair disease is a rare X-linked recessive disease nearly exclusively affecting males who present at 2-3 months of age due to abnormal functioning of copper-dependent enzymes due to deficiency of copper. Here, we describe a completely worked-up case of a 4-month-old male infant with very typical history and radiological features confirmed by biochemical and trichoanalysis. The initially seen asymmetric cortical and subcortical T2 hyperintensities in cerebral and cerebellar hemispheres converted into symmetrical diffuse cerebral and predominantly cerebellar atrophy with uniform loss of both white and grey matter on follow-up MRI. Also, subdural hemorrhages of various sizes and different stages and tortuosity of larger proximal intracranial vessels with distal narrowing were identified. Ours is a completely worked-up proven case of Menkes kinky hair disease (MKHD) with history, electroencephalography, biochemical, trichoanalysis, and MRI findings. This is a good teaching case and shows importance of clinical examination and biochemistry as complimentary to MRI. Tortuous intracranial arteries with blocked major vessels are found only in this disease, thus stressing the value of MR Angiography in these patients. Hindawi Publishing Corporation 2012 2012-08-07 /pmc/articles/PMC3420100/ /pubmed/22919529 http://dx.doi.org/10.1155/2012/684309 Text en Copyright © 2012 Rozil Gandhi et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Gandhi, Rozil
Kakkar, Ritu
Rajan, Sajeev
Bhangale, Rashmi
Desai, Shrinivas
Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease
title Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease
title_full Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease
title_fullStr Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease
title_full_unstemmed Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease
title_short Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease
title_sort menkes kinky hair syndrome: a rare neurodegenerative disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420100/
https://www.ncbi.nlm.nih.gov/pubmed/22919529
http://dx.doi.org/10.1155/2012/684309
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