P GLANZMANN X NEONATE

A 33-year-old woman (gravidity 2, parity 2) delivered a male neonate at 35 weeks’ gestation via cesarean section necessitated by premature rupture of membranes. The neonate weighed 2350 g, and had Apgar score of 7 at 1 min, and 8 at 5 min of birth. Immediately after birth, the baby had extensive bruising all over his body, and developed visible jaundice on the second day of life, for which he was referred to us. The mother had a pulmonary embolism during the pregnancy which was treated with enoxaparin that was continued after delivery. The patient’s 10-year-old brother had GT, presenting with bruises without trauma from 2 months of age, but no history of excessive bleeding; his molecular thrombophilia panel had not yet been assessed. Physical examination revealed icterus and ecchymotics patch measuring 5 × 3 cm2 on the anterior aspect of the right thigh (the site of a vitamin K injection) and smaller ecchymoses on his face, back, legs, and arms. Rest of the examination was normal. Investigations showed a white blood cell count of 7.3×109/L, reticulocyte count 2.23% (normal 0.5-3%), platelet count 190×109/L, hemoglobin 20 g/dL (12.1-17.2 g/dL), hematocrit 56.3% (36.1-50.3%), total bilirubin 34.19 mg/ dL, indirect bilirubin 33.45 mg/dL, G6PD enzyme level normal, activated partial thromboplastin time (aPTT) of 23.9 s. There were no Rh, ABO, or subgroup incompatibilities between the mother and infant. The peripheral blood smear did not reveal any dysmorphic erythrocytes or other findings to indicate hemolysis; neutrophils were 40%, lymphocytes 50%, and abundant, non-clustered, and normal-sized platelets. The abdominal and transfontanelle ultrasonographies were also normal. The baby underwent an exchange transfusion, after which his total bilirubin level dropped to 23.08 mg/dL, which was managed by phototherapy for another two days. In view of this family history, a molecular thrombophilia panel was tested. The results revealed that our index patient’s mother had heterozygous factor V Leiden G1691A and homozygous MTHFR C677T gene mutations. The patient’s flow cytometric analysis showed that the CD41/CD61 (anti-GPIIb–IIIa monoclonal antibodies) levels were undetectable. In addition, heterozygous factor V Leiden G1691A and heterozygous MTHFR C677T gene mutations were detected.