Neonatal liver failure and haemophagocytic lymphohistiocytosis caused by a new perforin mutation.

Danhaive, Olivier;Caniglia, Maurizio;Devito, Rita;Piersigilli, Fiammetta;Auriti, Cinzia;et.al.
(2010) Acta paediatrica — Vol. 99, n° 5, p. 778-780 (2010)

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Abstract
Acute liver failure is a rare heterogeneous syndrome in neonates. We report of a newborn with haemophagocytic lymphohistiocytosis presenting as acute liver failure. Pancytopenia and multi-organ failure occurred later in the course. He carried two mutations of the perforin gene (PRF-1), one of which not previously described, causing a complete loss of perforin expression and natural killer cell function. CONCLUSIONS: Perforin expression and function should be promptly assessed in neonatal/infantile acute liver failure, as haemophagocytic lymphohistiocytosis requires specific treatment and represents a contra-indication to liver transplant.
Affiliations
  • Bambino Gesù Children’s Hospital, RomeDepartment of Medical and Surgical Neonatology

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Danhaive, O., Caniglia, M., Devito, R., Piersigilli, F., Corchia, C., & Auriti, C. (2010). Neonatal liver failure and haemophagocytic lymphohistiocytosis caused by a new perforin mutation. Acta paediatrica, 99(5), 778-780. https://doi.org/10.1111/j.1651-2227.2009.01647.x (Original work published 2010)