Menkes Kinky Hair Syndrome : A Rare Neurodegenerative Disease
Joint Authors
Desai, Shrinivas
Gandhi, Rozil
Kakkar, Ritu
Bhangale, Rashmi
Rajan, Sajeev
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-08-07
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Gandhi, Rozil& Kakkar, Ritu& Rajan, Sajeev& Bhangale, Rashmi& Desai, Shrinivas. 2012. Menkes Kinky Hair Syndrome : A Rare Neurodegenerative Disease. Case Reports in Radiology،Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-490342
Modern Language Association (MLA)
Gandhi, Rozil…[et al.]. Menkes Kinky Hair Syndrome : A Rare Neurodegenerative Disease. Case Reports in Radiology No. 2012 (2012), pp.1-4.
https://search.emarefa.net/detail/BIM-490342
American Medical Association (AMA)
Gandhi, Rozil& Kakkar, Ritu& Rajan, Sajeev& Bhangale, Rashmi& Desai, Shrinivas. Menkes Kinky Hair Syndrome : A Rare Neurodegenerative Disease. Case Reports in Radiology. 2012. Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-490342
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-490342