Table of Contents
Washington University Experience | METABOLIC | Menkes disease | 3A0 Case 3 History
Case 3 History ---- The patient was a 30 month old male admitted one week antemortem for vomiting and dehydration. At 5 days of age after term birth, vertical nystagmus and staring episodes were noted. At 2 months of age the infant developed generalized seizures, treated with phenobarbital. At this time he was of appropriate size and weight for age. Over the ensuing months his seizure activity continued, and by 6 months of age the infant had lost acquired developmental milestones. He was hypotonic, had little visual following, did not smile, and had poor head control. By 8 months of age the infant was in the 3rd percentile for height, weight and head circumference. At that time, an extensive biochemical workup was performed. From that time until his death, the infant was unable to do more than lie supine and verbalize sounds. Over the two ensuing years the patient had multiple admissions for vomiting, respiratory infection, weight loss and dehydration. During his last admission for vomiting and dehydration, the patient succumbed to bilateral bronchopneumonia. (AANP Diagnostic Slide Session 1987, Case 11)
