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.
Publication ( Name of Journal)
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: https://ecommons.aku.edu/pakistan_fhs_mc_med_med/438
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