Presenter: Tyler Reimschisel, MD Preceptor: Harvey Singer, MD


October 07, 2002

Diagnosis and Referral to Pediatric Neurology Clinic

In summary, the patient is a 4-month-old infant boy with seizures; developmental delay; sparse, curly hair; rosy cheeks; and evidence of strokes on a brain MRI. Based on this constellation of findings, the outside institution thought that Menkes disease was the most likely diagnosis. A serum copper level was measured, and it was less than 0.01 _mol/L. This laboratory result confirmed the diagnosis of Menkes disease. The family declined copper therapy. Phenobarbital was started to treat the seizures, and he was referred to the Pediatric Neurology Clinic at Johns Hopkins for follow up.


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