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Washington University Experience | METABOLIC | Menkes disease | 1A0 Case 1 History
Case 1 History ---- This African-American child was first admitted at the age of 4 months for evaluation of seizures and dysmorphic features. Once admitted, his features, particularly his pudgy face with short, fragile, twisted hair suggested the possibility that the patient might have Menkes “steely/kinky” hair syndrome. Copper serum level was 15 (nl 70 -140). Ceruloplasmin was less than 5 mg% (nl 15 - 60). The serum copper and ceruloplasmin findings plus the clinical appearance were felt to be consistent with Menkes syndrome. With copper infusion his serum copper was elevated to the low 20s with no change in his ceruloplasmin level; his clinical improvement was arguable at best. At his last admission he was noted to have many seizures per day, had developed a nonproductive cough with increased respiratory rate, refused all fluids and food, developed fever, vomiting and diarrhea. Chest X-ray showed bilateral perihilar and lower lobe infiltrates. In spite of treatment with antibiotics and anticonvulsants, the patient continued having frequent seizures with hypotension. He had several apneic spells which did not respond to treatment and the patient was pronounced dead at the age of 14 months.
