Easy bruisability and terminal coma in a “normal” 5-month-old infant

Abstract

THE PATIENT was a 5-month-old white male admitted in coma via transferral from another hospital. The family history revealed that the paternal grandmother had a history of prolonged bleeding with tooth extractions, which was controlled by vitamin K administration. The mother had two normal sons and a normal daughter older than the patient. The father had two sisters, one with two normal sons and the other with one normal son and one with cystic fibrosis. There was no family history of any other disease or bleeding disorder. Gestation was term and uncomplicated. The mother, 33 years old, received 5 mg Synkayvite (menadiol sodium diphosphate) 13 hours before delivery. Labor and delivery were uncomplicated. The amniotic fluid was stained with meconium and blood. Circumcision was performed at eight hours with no bleeding problem. The mother noted bleeding for about two days, however, following a heel puncture for hematologic work-up; other heel punctures produced no bleeding. The infant did well until 3 months of age when a soybean formula was prescribed for possible milk allergy, characterized by increased frequency of stools. At 4 months of age, the mother noted a hard, red knot on the chest. A local physician noted a platelet count of 34,000/mm ~. Subsequent platelet counts were above 120,000/mm 3. Nevertheless the infant developed multiple bruises on the back, and a week prior to admission there was a bruise on the back of the head. On the morning of admission, the infant appeared pale and had forceful vomiting of all feedings; in the afternoon he had a clonic seizure, and the left eyelid remained closed. He was taken to another hospital where he became comatose. Two lumbar punctures yielded