The case of a 16-month-old boy is described who had typical clinical and radiological features and was proven biochemically to be a case of Menke's disease. Clinical manifestations began in the first few months with hypothermia, hypotonia, seizures and death occurring at the age of 18 months.
JPMA. The Journal of the Pakistan Medical Association
Samdani, A. J.,
(2005). Menke's kinky hair syndrome--a rare medical condition.. JPMA. The Journal of the Pakistan Medical Association, 55(1), 40-42.
Available at: http://ecommons.aku.edu/pakistan_fhs_mc_med_med/438
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