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Case Reports in Radiology
Volume 2012 (2012), Article ID 684309, 4 pages
http://dx.doi.org/10.1155/2012/684309
Case Report

Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease

1Department of Radiology, Tata Memorial Hospital, Parel, Mumbai 400012, India
2Department of Radiology, Jaslok Hospital and Research Center, Mumbai 400026, India

Received 17 March 2012; Accepted 28 May 2012

Academic Editors: E. Kapsalaki and A. Matsuno

Copyright © 2012 Rozil Gandhi et al. 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.

Abstract

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.