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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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Radiology |
| Online Access: | http://dx.doi.org/10.1155/2012/684309 |
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| author | Rozil Gandhi Ritu Kakkar Sajeev Rajan Rashmi Bhangale Shrinivas Desai |
| author_facet | Rozil Gandhi Ritu Kakkar Sajeev Rajan Rashmi Bhangale Shrinivas Desai |
| author_sort | Rozil Gandhi |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-6a34e027de2c4e3ba7085ab795456687 |
| institution | Kabale University |
| issn | 2090-6862 2090-6870 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Radiology |
| spelling | doaj-art-6a34e027de2c4e3ba7085ab7954566872025-08-20T03:33:39ZengWileyCase Reports in Radiology2090-68622090-68702012-01-01201210.1155/2012/684309684309Menkes Kinky Hair Syndrome: A Rare Neurodegenerative DiseaseRozil Gandhi0Ritu Kakkar1Sajeev Rajan2Rashmi Bhangale3Shrinivas Desai4Department of Radiology, Tata Memorial Hospital, Parel, Mumbai 400012, IndiaDepartment of Radiology, Jaslok Hospital and Research Center, Mumbai 400026, IndiaDepartment of Radiology, Jaslok Hospital and Research Center, Mumbai 400026, IndiaDepartment of Radiology, Jaslok Hospital and Research Center, Mumbai 400026, IndiaDepartment of Radiology, Jaslok Hospital and Research Center, Mumbai 400026, IndiaMenkes 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.http://dx.doi.org/10.1155/2012/684309 |
| spellingShingle | Rozil Gandhi Ritu Kakkar Sajeev Rajan Rashmi Bhangale Shrinivas Desai Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease Case Reports in Radiology |
| 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 |
| url | http://dx.doi.org/10.1155/2012/684309 |
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