
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.
Diagnosis, Differential, Male, Fatal Outcome, Humans, Infant, Menkes Kinky Hair Syndrome
Diagnosis, Differential, Male, Fatal Outcome, Humans, Infant, Menkes Kinky Hair Syndrome
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