scholarly journals Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Rozil Gandhi ◽  
Ritu Kakkar ◽  
Sajeev Rajan ◽  
Rashmi Bhangale ◽  
Shrinivas Desai

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.

2008 ◽  
Vol 30 (6) ◽  
pp. 812-816 ◽  
Author(s):  
Susan Morgello ◽  
Hart de C. Peterson ◽  
Leonard J. Kahn ◽  
Hilda Laufer

1983 ◽  
Vol 5 (6) ◽  
pp. 533-540 ◽  
Author(s):  
Mitsuo Maehara ◽  
Nobuaki Ogasawara ◽  
Naoki Mizutani ◽  
Kazuyoshi Watanabe ◽  
Sakae Suzuki

2017 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
BelaJaswantlal Shah ◽  
Ashish Jagati ◽  
Rutu Joshi

1985 ◽  
Vol 60 (2) ◽  
pp. 173-181 ◽  
Author(s):  
Ikuo Watanabe ◽  
Yuuji Watanabe ◽  
Eiko Motomura ◽  
Masahiko Nishimura ◽  
Makoto Yazaki

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