A case of neonatal galactosemia presenting with rare hematologic problems: factor V deficiency and hemophagocytic lymphohistiocytosis.

BACKGROUND: In the neonatal period, classical galactosemia usually presents with nonspecific clinical signs such as feeding intolerance, jaundice, lethargy, hypotonia, vomiting, and failure to thrive. Hemophagocytic lymphohistiocytosis (HLH) is very rare, with only a few case reports. The mechanism of HLH in metabolic disorders is unclear. It is thought to be related to tissue damage and impaired lymphocyte and histiocyte function, or some form of macrophage activation through metabolite accumulation. Various exogenous agents can inhibit factor V (FV) secretion or reduce its activity by inhibiting sulphatization, glycosylation, or phosphorylation. CASE PRESENTATION: Here we report the case of a newborn who presented with elevated prothrombin time and activated partial thromboplastin time in the setting of liver failure and transient low FV levels and was subsequently diagnosed with HLH secondary to galactosemia. CONCLUSION: Neonatal galactosemia can lead to secondary HLH and transient FV deficiency. Our experience suggests that FV deficiency in neonates with galactosemia may develop secondary to liver damage and/or impaired glycosylation, and resolves with adequate treatment of the underlying disease.