Familial Hemophagocytic Lymphohistiocytosis Type 3
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SCIENTIFIC LETTER
Familial Hemophagocytic Lymphohistiocytosis Type 3 Yue Du 1 & Li Li 1 & Xiao Ying Wang 1 & Liang Chen 1 & Sheng Hua Jia 1 & Rong Mi 1 Received: 18 March 2020 / Accepted: 3 April 2020 # Dr. K C Chaudhuri Foundation 2020
To the Editor: A newborn boy was admitted to a local hospital with fever and splenomegaly. He was the mother’s second pregnancy and first birth, born after an uncomplicated pregnancy, with healthy and non-consanguineous parents. The first pregnancy was voluntary abortion. Prenatal ultrasound revealed normal fetal growth and development ever before, but at 39 3/7 wk, it revealed splenomegaly, ascites and fetal cerebral ventriculomegaly. The next day, he was delivered by cesarean section with a birth weight of 3550 g and a length of 50 cm, additionally the apgar scores was 10 points. He showed no dysmorphic features. The routine blood test showed WBC 8.1 × 109/L, neutrophils 0.92 × 109/L, hemoglobin 120 g/L, platelets 33 × 109/L, CRP 21.1 mg/L, atypical lymphocyte 20%; normal liver enzymes, and ultrasound showed splenomegaly and cholestasis. He was diagnosed with infection and treated with kinds of antibiotics and blood products, but the disorder still deteriorated. After 18 d, he was admitted to our department as his fourth hospital. Physical examination revealed fever, tachypnea, petechiae, lymphadenopathy, hepatosplenomegaly and abdominal distension. Laboratory examination revealed anemia, neutropenia, thrombopenia, elevated liver enzymes, cholestasis, high ferritin, high triglyceride and low fibrinogen. The CD107a excitation experiment showed that the degranulation function of NK cell is decreased (¸CD107a T in intron 1 which was pathogenetic and inherited from his father; the other mutation c.3002 T > C, in exon 31, p.L1001P was predicted to be probably pathogenic using 2 different protein programs (PolyPhen, SIFT) and inherited from his mother. Then his diagnosis was corrected as Familial hemophagocytic lymphohistiocytosis type 3 (FHL3). But the hematopoietic stem cell transplantation (HSCT) was refused, and he died of the infection at 52 d of age [1–3].
Compliance with Ethical Standards Conflict of Interest None.
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Meeths M, Chiang SC, Wood SM, et al. Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. Blood. 2011;118:5783–93. Henter JI, Horne A, Arico M, et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48:124–31. Sieni E, Cetica V, Santoro A, et al. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. J Med Genet. 2011;48:343–52.
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