Menke's kinky hair syndrome--a rare medical condition.
نویسندگان
چکیده
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.
منابع مشابه
Menkes disease: A rare disorder.
Menkes disease (MD) (OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair. A 7-months-old, male infant presented to our outpatient department in June 2016 with history of developmental delay and seizures. Seizures started at 3 months of age and worsened progressively to clusters of extensor spasms. Physical examination showed sparse and kinky hair. Neurologic...
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ورودعنوان ژورنال:
- JPMA. The Journal of the Pakistan Medical Association
دوره 55 1 شماره
صفحات -
تاریخ انتشار 2005