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Factor XIII deficiency in a mother-baby dyad

Background: Factor XIII deficiency is a rare autosomal recessive coagulation disorder with varied presentations including prolonged bleeding from the umbilical cord stump, defective wound healing, recurrent miscarriages, or life-threatening intracranial hemorrhage. Clinical Description: A male baby was born at term gestation to a fourth gravida mother with a history of two abortions in the past. He was born out of a third-degree consanguineous marriage, with smooth perinatal transition, but developed multiple episodes of seizures associated with poor feeding and lethargy after 24 h of life. Management: On evaluation, septic screen, metabolic screen (serum electrolytes, calcium, and blood sugar), and coagulation assays were normal. Ultrasonogram revealed a hyperechoic lesion restricted to the left cerebral hemisphere, suggestive of an intraparenchymal hemorrhage. Magnetic resonance imaging brain showed left intraparenchymal hemorrhage with significant mass effect and midline shift. In view of intracranial bleed with normal coagulation assay and other causes being ruled out, factor XIII clot solubility assay was sent and found to have undetectable levels. Factor XIII levels of the mother were also found low (5.5%) though the levels in the father were normal. The baby was managed conservatively with supportive measures in the form of anticonvulsant and anti-edema measures. He recovered successfully and is under close follow-up. Conclusion: A high index of suspicion of factor XIII deficiency should be kept in any neonate presenting with intraparenchymal hemorrhage and recurrent abortions in the mother. This case is being reported to highlight factor XIII deficiency in recurrent pregnancy loss and neonatal intracranial bleeding. Prenatal screening for factor XIII deficiency in these circumstances will help in effective management of future pregnancies.