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Year : 2015  |  Volume : 16  |  Issue : 2  |  Page : 81-83

Menke's kinky hair disease with visual pathway defect: An association or coincidence?

1 Department of Dermatology, STD and Leprosy, Burdwan Medical College, Burdwan, India
2 Department of Dermatology, STD and Leprosy, Bangalore Medical College and Research Institute, Bangalore, India
3 Department of Pediatrics, Dr. B. C. Roy Post Graduate Institute of Paediatric Sciences, Kolkata, West Bengal, India

Correspondence Address:
Abhijit Saha
No. 46/4, Swarnamoyee Road, P. O. Berhampore, Murshidabad 742 101, West Bengal
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.152128

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Menke's kinky hair disease (MKHD) is a rare X-linked recessive lethal disease of multisystem involvement. The predominant clinical findings are twisted, kinky, short, sparse, coarse, whitish, silver, or gray hair, eyebrows, and eyelashes. It is a disorder of defective copper metabolism leading to progressive neurodegeneration. The prognosis is poor with most of the patients dying at the age of 3-4 years due to respiratory failure secondary to infections. It generally always affects males with no racial predilection. We hereby report a classic case of Menke's disease with visual pathway defect but normal brain imaging. To the best of our knowledge, this type of presentation has not been reported before in the literature. Awareness amongst physicians about this rare entity is important to prevent misdiagnosis and institution of necessary supportive care. Our observation further reinforces the importance of systemic evaluation in a suspected case of MKHD.

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