Neonatal Haemophagocytic Lymphohistiocytosis Associated with Maternal Adult-Onset Still's Disease.
Neonatal haemophagocytic lymphohistiocytosis (HLH) is a rare but potentially lethal condition. We recently encountered a preterm infant who developed severe HLH associated with maternal adult-onset Still's disease, which to our knowledge has not been previously reported. The infant presented with fever, generalised lymphadenopathy, transient erythematous skin rash, hepatosplenomegaly, ascites, pancytopenia, marked hyperferritinaemia, and hypofibrinogenaemia, which were features similar to maternal presentation during late pregnancy. Whole gene exome sequencing screening for familial HLH (PRF1, STX11, STXBP2, and MUNC13D genes) was negative. We postulated that factors such as auto-antibodies, antigens, or inflammatory mediators transmitted vertically from the mother could have triggered the intense inflammation in the infant. The infant responded promptly to dexamethasone, etoposide, and cyclosporin A, without the need for bone marrow transplantation. Neonatologists should be alerted to the rare diagnosis of HLH in the presence of active maternal diseases, including infection or autoimmune conditions, especially in association with fever, cytopenia, and hepatosplenomegaly.
Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, SAR, China.
Anna
A
Lin
Terence Ping Yuen
TP
Ma
Frankie Wai Tsoi
FW
Cheng
Pak Cheung
PC
Ng
D016572:Cyclosporine / Q000008:administration & dosage; D005047:Etoposide / Q000008:administration & dosage; D005260:Female; D005334:Fever; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000175:diagnosis* / Q000188:drug therapy; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis*; D011296:Prenatal Diagnosis; D016706:Still's Disease, Adult-Onset / Q000175:diagnosis*
D005047:Etoposide; D016572:Cyclosporine