Familial haemophagocytic lymphohistiocytosis: Survival of a premature twin with immuno-chemotherapy and bone marrow transplantation from an HLA-identical unrelated donor

Simone Rugolotto, Pier Luigi Marradi, Rita Balter, Rita Maccario, Ezio Maria Padovani, Franco Locatelli

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a premature twin born at 30 wk of gestational age, affected with familial haemophagocytic lymphohistiocytosis. Two different mutations were identified in his DNA: one inherited from the mother and one from the father. Haemophagocytosis had been confirmed in his twin brother, who died soon after birth, as well as in the re-evaluation of the autopsy of his older sister, who died 1 y earlier. At 26 d of age, chemotherapy and immune-suppressive treatment were started according to the HLH-94 protocol. At 6 mo of age, a bone marrow transplant from an HLA-identical, unrelated volunteer was performed. Now at 32 mo of age, the infant is healthy and without signs of graft-versus-host disease. Conclusion: This case report shows that immuno-chemotherapy and allogenic bone marrow transplant are feasible even in premature infants affected with familial haemophagocytic lymphohistiocytosis, which should be ruled out in unknown bleeding disorders of neonates.

Original languageEnglish
Pages (from-to)971-974
Number of pages4
JournalActa Paediatrica, International Journal of Paediatrics
Volume94
Issue number7
DOIs
Publication statusPublished - Jul 2005

Keywords

  • Farquhar's disease
  • Haemophagocytosis
  • Newborn

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Familial haemophagocytic lymphohistiocytosis: Survival of a premature twin with immuno-chemotherapy and bone marrow transplantation from an HLA-identical unrelated donor'. Together they form a unique fingerprint.

Cite this