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


2015 ◽  
Vol 11 (02) ◽  
pp. 123-125
Author(s):  
Dhrubajyoti Mridha ◽  
Sudip Saha


2012 ◽  
Vol 57 (5) ◽  
pp. 407
Author(s):  
SanjivV Choudhary ◽  
RutujaW Gadegone ◽  
Sankha Koley


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


Cases Journal ◽  
2008 ◽  
Vol 1 (1) ◽  
Author(s):  
Asok K Datta ◽  
Taraknath Ghosh ◽  
Kaustav Nayak ◽  
Mrinalkanti Ghosh




2002 ◽  
Vol 1245 ◽  
pp. 365-366
Author(s):  
Noriyuki Shibata ◽  
Asao Hirano ◽  
Koji Uchida ◽  
Ryoji Nagai ◽  
Seikoh Horiuchi ◽  
...  


2000 ◽  
Vol 4 (3) ◽  
pp. 131-134 ◽  
Author(s):  
Sandeep Jayawant ◽  
Shawn Halpin ◽  
Sheila G Wallace


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