Budd–Chiari Syndrome and Factor V Leiden in a Neonate
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《新英格兰医药杂志》
To the Editor: A 2700-g male infant, born at 35 weeks of gestation by cesarean section, was found to have fetal ascites without apparent cause at 33 weeks of gestation. The mother had IgG antibodies but not IgM antibodies against cytomegalovirus (CMV). At birth, the baby had moderate hepatomegaly and mild ascites; the results of liver-function tests were normal, and serologic analysis for hepatitis was negative.
At 29 days after birth, the baby underwent surgery for an inguinal hernia. The postoperative course was complicated by increasing hepatomegaly and generalized edema. The baby was transferred to our hospital; CMV infection was ruled out by polymerase-chain-reaction analysis of urine, saliva, and blood, as were Niemann–Pick disease, other metabolic diseases, and lysosomal storage diseases. The degree of hepatosplenomegaly increased, and the Budd–Chiari syndrome was diagnosed by abdominal computed tomography performed 48 days after birth (Figure 1). The baby was found to be heterozygous for the factor V Leiden mutation.
Figure 1. Abdominal CT Scan Showing Enlargement of the Liver and the Spleen in a 48-Day-Old Infant.
The celiac trunk, hepatic artery (HA), and splenic artery (SA) are filled with contrast medium, but the portal vein is not completely visualized.
Subcutaneous low-molecular-weight heparin was started but discontinued after 10 days because ultrasonography showed normal drainage of the hepatic vein. Ticlopidine and propranolol were started, and the baby was discharged. After two months, left renal thrombosis developed, and therapy with low-molecular-weight heparin was again started and continued until the baby was a year old and had no symptoms. The results of liver-function tests were normal, but hepatosplenomegaly persisted.
The Budd–Chiari syndrome is rare in neonates1; its association with hereditary thrombophilia has been reported previously.2 In our patient, the prenatal onset of the disease indicated an inherited thrombophilic state. After birth, the prothrombotic risk factors of prematurity and surgery for inguinal hernia most likely accelerated the course of the disease.
Venous thrombosis should be considered as a cause of intrauterine ascites or of liver disease in neonates, and screening for thrombophilia should be undertaken in infants with the Budd–Chiari syndrome. In our patient, low-molecular-weight heparin stabilized the clinical abnormalities, but antiplatelet therapy with ticlopidine was ineffective.
Fiammetta Piersigilli, M.D.
Cinzia Auriti, M.D.
Giulio Seganti, M.D.
Bambino Gesù Children's Hospital
00165 Rome, Italy
auriti@opbg.net
References
Dunn SP, Tsai A, Griffin G, et al. Liver transplantation as definitive treatment for a factor V Leiden mutation. J Pediatr 2005;146:418-422.
Heller C, Schobess R, Kurnik K, et al. Abdominal venous thrombosis in neonates and infants: role of prothrombotic risk factors -- a multicenter case-control study. Br J Haematol 2000;111:534-539.
At 29 days after birth, the baby underwent surgery for an inguinal hernia. The postoperative course was complicated by increasing hepatomegaly and generalized edema. The baby was transferred to our hospital; CMV infection was ruled out by polymerase-chain-reaction analysis of urine, saliva, and blood, as were Niemann–Pick disease, other metabolic diseases, and lysosomal storage diseases. The degree of hepatosplenomegaly increased, and the Budd–Chiari syndrome was diagnosed by abdominal computed tomography performed 48 days after birth (Figure 1). The baby was found to be heterozygous for the factor V Leiden mutation.
Figure 1. Abdominal CT Scan Showing Enlargement of the Liver and the Spleen in a 48-Day-Old Infant.
The celiac trunk, hepatic artery (HA), and splenic artery (SA) are filled with contrast medium, but the portal vein is not completely visualized.
Subcutaneous low-molecular-weight heparin was started but discontinued after 10 days because ultrasonography showed normal drainage of the hepatic vein. Ticlopidine and propranolol were started, and the baby was discharged. After two months, left renal thrombosis developed, and therapy with low-molecular-weight heparin was again started and continued until the baby was a year old and had no symptoms. The results of liver-function tests were normal, but hepatosplenomegaly persisted.
The Budd–Chiari syndrome is rare in neonates1; its association with hereditary thrombophilia has been reported previously.2 In our patient, the prenatal onset of the disease indicated an inherited thrombophilic state. After birth, the prothrombotic risk factors of prematurity and surgery for inguinal hernia most likely accelerated the course of the disease.
Venous thrombosis should be considered as a cause of intrauterine ascites or of liver disease in neonates, and screening for thrombophilia should be undertaken in infants with the Budd–Chiari syndrome. In our patient, low-molecular-weight heparin stabilized the clinical abnormalities, but antiplatelet therapy with ticlopidine was ineffective.
Fiammetta Piersigilli, M.D.
Cinzia Auriti, M.D.
Giulio Seganti, M.D.
Bambino Gesù Children's Hospital
00165 Rome, Italy
auriti@opbg.net
References
Dunn SP, Tsai A, Griffin G, et al. Liver transplantation as definitive treatment for a factor V Leiden mutation. J Pediatr 2005;146:418-422.
Heller C, Schobess R, Kurnik K, et al. Abdominal venous thrombosis in neonates and infants: role of prothrombotic risk factors -- a multicenter case-control study. Br J Haematol 2000;111:534-539.