Successful pregnancy in a woman with congenital factor XIII deficiency treated with substitutive therapy

Summary A syndrome of marked fetal wastage is associated with congenital factor XIII deficiency in adult women. A previously unreported case of a woman with factor XIII deficiency is described, in which substitutive treatment with normal plasma or placental factor XIII concentrate permitted two normal pregnancies. Factor XIII activity was maintained above 1–2% with intermittent infusion of 300 ml to 450 ml of plasma every 14 days or of 500 units of concentrate every 21 days. This case confirms the only other case so far reported in which factor XIII substitutive therapy was able to permit a normal pregnancy in a woman with factor XIII deficiency and seems to suggest factor XIII to be involved in the process of annidation.     

Successful pregnancy in a patient with Ebstein's anomaly

A case is described of a successful pregnancy in a woman with Ebstein's anomaly. It is suggested that careful assessment should be made before advising against starting or terminating pregnancies, since successful outcomes are possible.     

Successful pregnancy in a patient with Ebstein's anomaly

A case is described of a successful pregnancy in a woman with Ebstein's anomaly. It is suggested that careful assessment should be made before advising against starting or terminating pregnancies, since successful outcomes are possible.     

Successful pregnancy outcome in a woman with argininosuccinate lyase deficiency

Argininosuccinic aciduria (ASAD) is caused by deficiency of the fourth enzyme of the urea cycle, argininosuccinic acid lyase (EC 4.3.2.1; McKusick 207900). It results in the accumulation of large amounts of argininosuccinic acid in tissues and all the body fluids (Brusilow and Horwich 1995). The disorder may vary in severity from neonatal hyperammonaemia, which if untreated is fatal, to a biochemical abnormality without apparent clinical sequelae (Brusilow and Horwich 1995). A number of patients survive to adulthood and an increasing number have normal or near normal intelligence (Brusilow and Horwich 1995). There are, however, few reports of pregnancy outcome in women affected with this condition. Those available suggest that the offspring may not be at risk for development delay (Ward et al 1990; Worthington et al 1996). We report here the birth of two children to a woman affected with this disorder. Both were entirely normal developmentally as judged by formal testing. It supports the notion that this condition may not be embryotoxic due either to the inherent nontoxic nature of argininosuccinate or to its failure to cross the placenta in adequate amounts.     

Successful pregnancy in a patient with a homograft aortic valve

A case is described of a 27-year-old woman whose aortic valve was replaced by a homograft. Eighteen months after the operation she gave birth to a normal healthy girl.     

Successful pregnancy in a patient with a homograft aortic valve

A case is described of a 27-year-old woman whose aortic valve was replaced by a homograft. Eighteen months after the operation she gave birth to a normal healthy girl.     

Successful pregnancy and delivery in a patient with adult GH deficiency: role of GH replacement therapy

Adult growth hormone deficiency (AGHD) is a recently recognized endocrine disorder characterized by low peak GH levels during provocative tests. The AGHD has a negative impact on bone mineral density, skeletal muscle strength, physical capacity and psychosocial well-being. Furthermore, the girls with GHD have delayed pubertal development, and in adulthood present a condition of subfertility. Treatment for AGHD with GH replacement therapy has been officially approved since 2006 in Japan. The patient was diagnosed as pituitary dwarfism at age 9. She was treated with GH replacement therapy since diagnosis until her height reached 155cm at age 15. When she was 24 years old, she suffered from clinical symptoms relating to GH deficiency, and she visited our hospital for reintroduction of the therapy to alleviate these clinical symptoms. She has been treated with the replacement therapy since then. The patient's dysmenorrhea improved. And she was found to be 8 weeks pregnant at age 28 years 7 months. We immediately ceased replacement therapy and carefully observed the patient, because it is not indicated for female patient with pregnancy. She delivered a healthy girl at 40 weeks of pregnancy, no recognizable side-effects were observed in either mother or baby. To our knowledge, there are no other reports of a Japanese patient becoming pregnant during GH replacement therapy, and few cases have been reported in other countries. It remains uncertain whether the therapy is safe and essential for fetal development, fertility, and continuation of pregnancy in AGHD subjects.     

Successful pregnancy in a patient with systemic lupus erythematosus on hemodialysis

We report a twenty-nine-year-old patient, on renal replacement treatment (including 2 kidney transplants) since she was 11 years old, because of systemic lupus erythematosus. The patient became pregnant on hemodialysis, concluding the pregnancy successfully. The evolution and management of pregnancy were described and the related literature was revised. We concluded that, although pregnancy on hemodialysis and/or systemic lupus erythematosus patients involves a high risk for the mother and the fetus that makes advisable contraception, an increase in success in pregnancies in systemic lupus erythematosus patients on remission during the previous months, has been recently observed. Moreover, the increase of frequency and duration of hemodialysis sessions, has improved the neonatal survival around the 50% in pregnancies on dialysis. We emphasize the difficulty to maintain the mother's hemoglobin at an adequate target, as well as the high frequency of fetal prematury.     

Successful management of pregnancy in a patient with eisenmenger syndrome with epoprostenol

Pregnancy in the setting of pulmonary hypertension and Eisenmenger physiology is associated with a substantial maternal and fetal risk. Such patients are advised against pregnancy. We report a case of a woman with an Eisenmenger atrial septal defect diagnosed during the last trimester of pregnancy. On presentation, she was critically ill and there was evidence of fetal distress. She was emergently treated with IV epoprostenol, and her status improved. She underwent cesarean section and delivered a male infant with Apgar scores of 8 and 9. Her dyspnea improved, and she was characterized as World Health Organization functional class II on a subsequent clinical visit. Although pregnancy should be discouraged in women with Eisenmenger syndrome, we have demonstrated that IV epoprostenol successfully treated a woman with Eisenmenger syndrome diagnosed in the third trimester.     

Successful pregnancy outcome in a patient with Gaucher's disease and antiphospholipid syndrome

Gaucher's disease is characterized by increased incidence of several autoantibodies, but autoimmune phenomena are rare in Gaucher patients. We report the first occurrence of Gaucher's disease and antiphospholipid syndrome in the same patient. A 27-year-old woman with hepatosplenomegaly and thrombocytopenia who was diagnosed as having Gaucher's disease with the genotype 1226G/1226G developed Coombs'-positive hemolytic anemia, recurrent abortions, and a high titer of IgG and IgM anticardiolipin antibodies constituting the diagnosis of antiphospholipid syndrome. A successful pregnancy outcome was achieved by combined therapy with aspirin, low-molecular-weight heparin, prednisone, and enzyme replacement therapy with imiglucerase. The possible pathogenicity of antiphospholipid antibodies found in the sera of many asymptomatic Gaucher patients should be further clarified.     

Cerebral metabolic changes in biotinidase deficiency

Clinical and metabolic changes in the central nervous system are described in a patient with biotinidase deficiency before and after biotin treatment. Lactate, pyruvate and 3-hydroxyisovaleric acid as metabolic disease markers were measured in blood, cerebrospinal fluid and brain tissue by biochemical analyses or localized magnetic resonance proton spectroscopy. The patient improved markedly with biotin treatment. Nevertheless, neurological sequelae and abnormal intracerebral lactate concentrations persisted despite normalized metabolic disease markers in extracerebral fluids. Therefore, localized in vivo measurements of intracerebral metabolites may be a valuable tool for elucidating the pathogenesis of biotinidase deficiency.