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

2015 ◽  
Vol 16 (2) ◽  
pp. 81
Author(s):  
Abhijit Saha ◽  
Joly Seth ◽  
Suprit Basu ◽  
Samipa Mukherjee

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.


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