1/79. Diprosopus (partially duplicated head) associated with anencephaly: a case report.Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of the following structures there were two of each: noses, eyes, ears (and one dimple), mouths, tongues and, with bilateral central cleft lips and cleft palates. This was associated with holoprosencephaly and craniorachischisis. Internal organs showed no duplication. There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small left kidney with short ureter. The body also had a short neck, small chest cavities and kyphosis. X-ray revealed duplication of the vertebral column. The case presented here represents a type II of diprosopia of Rating (1933) and is the least common type reported. We also reviewed 22 recently reported cases of diprosopus. In addition to facial duplication, anencephaly, neural tube defect and cardiac malformations represent the more common congenital abnormalities associated with diprosopus. The pathogenesis of diprosopus is not well understood. Factors that play a role in diprosopus are probably similar to those factors (genetic, environmental and abnormal placental circulation) which affect monozoygotic twins as observed in this case report. Early ultrasonography diagnosis of diprosopus permits one to consider a vaginal therapeutic abortion.- - - - - - - - - - ranking = 1keywords = adrenal gland, adrenal, gland (Clic here for more details about this article) |
2/79. Familial perinatal hemochromatosis: a disease that causes recurrent non-immune hydrops.Perinatal hemochromatosis is a rare disorder with an enormous iron overload in the parenchymal organs, especially the liver, pancreas, heart and endocrine glands. elements of the reticuloendothelial system are relatively spared. The clinical course is rapidly progressive and the disease is invariably fatal. Several siblings are described in the literature. Herein, we describe one pair of full siblings affected by the disease, wherein the clinical presentation was hydrops. We suggest that hemochromatosis should be considered in the differential diagnosis of hydrops fetalis.- - - - - - - - - - ranking = 0.0067931806381745keywords = gland (Clic here for more details about this article) |
3/79. prenatal diagnosis of fetal adrenal masses: differentiation between hemorrhage and solid tumor by color Doppler sonography.We present four cases of fetal adrenal masses detected by routine prenatal ultrasound, of which three were adrenal hemorrhages and one was a fetal neuroblastoma. The differential diagnoses of fetal adrenal mass include adrenal hemorrhage, neuroblastoma, adrenal and cortical renal cysts, pulmonary sequestrations, duplication of the renoureteral system and beckwith-wiedemann syndrome. These can pose a diagnostic and therapeutic dilemma. A systematic comparison of the pre- and postnatal sonographic features including color Doppler imaging may help to differentiate adrenal hemorrhage from neuroblastoma prenatally.- - - - - - - - - - ranking = 4.3162448402613keywords = adrenal (Clic here for more details about this article) |
4/79. prenatal diagnosis of adrenal neuroblastoma by ultrasound: a report of two cases and review of the literature.prenatal diagnosis of neuroblastoma is a rare event. Two cases diagnosed at 32 and 34 weeks are reported together with a description of the various ultrasound appearances of this tumor. Both cases had a favorable outcome and surgery was necessary in only one case. The management options are discussed in the light of the current literature. The role of ultrasound in the detection and follow-up of this tumor in the third trimester of pregnancy is discussed.- - - - - - - - - - ranking = 1.7264979361045keywords = adrenal (Clic here for more details about this article) |
5/79. prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia.Congenital adrenal hyperplasia (CAH) consists of autosomal recessive disorders of cortisol biosynthesis, which in the majority of cases result from 21-hydroxylase deficiency. Another enzymatic defect causing CAH is 11beta-hydroxylase deficiency. In both forms, the resulting excessive androgen secretion causes genital virilization of the female fetus. For over 10 yr female fetuses affected with 21-hydroxylase deficiency have been safely and successfully prenatally treated with dexamethasone. We report here the first successful prenatal treatment with dexamethasone of an affected female with 11beta-hydroxylase deficiency CAH. The family had two girls affected with 1beta-hydroxylase deficiency born with severe ambiguous genitalia who were both homozygous for the T318M mutation in the CYP11B1 gene, which codes for the 11beta-hydroxylase enzyme. In the third pregnancy in this family, the female fetus was treated in utero by administering dexamethasone to the mother, starting at 5 weeks gestation. The treatment was successful, as the newborn was not virilized and had normal female external genitalia. A second family with two affected sons was also studied in preparation for a future pregnancy. We report a novel 1-bp deletion in codon 394 (R394delta1) in the CYP11B1 gene in this family.- - - - - - - - - - ranking = 2.1581224201307keywords = adrenal (Clic here for more details about this article) |
6/79. Antenatal diagnosis of congenital hepatoblastoma in utero.A fetus with a huge hepatic tumor was detected by sonography at 36 weeks of gestation. The mass appeared as a single, solid and polylobular tumor located in the right lobe of the liver. Foci of hemorrhage, necrosis and some tiny calcifications were seen. The adjacent right kidney appeared normal but was displaced. The right adrenal gland was not visualized. Three-dimensional power Doppler sonography further depicted the corresponding vascular anatomy of the tumor, including its vascularization pattern and blood supply. The tumor was situated to the right of the umbilical vein and portal sinus, possibly deriving its blood supply from the portal circulation. The fundamental findings suggested the diagnosis of hepatoblastoma by exclusion of other possibilities. The baby was delivered by cesarean section at 36 weeks' gestation, due to signs of fetal distress. Unfortunately, hypotension, tachycardia, and tachypnea developed shortly after birth. Surgical intervention was performed, but intractable bleeding occurred intra-operatively. The infant died at 6 days of age. autopsy confirmed the diagnosis of hepatoblastoma. We believe this is the first reported case of the antenatal diagnosis of congenital hepatoblastoma.- - - - - - - - - - ranking = 1keywords = adrenal gland, adrenal, gland (Clic here for more details about this article) |
7/79. Intrauterine treatment of fetal goitrous hypothyroidism controlled by determination of thyroid-stimulating hormone in fetal serum. A case report and review of the literature.We report a rare case of fetal goitrous hypothyroidism complicated by polyhydramnios and preterm labor in a mother without thyroid gland pathology. The diagnosis was made in the 26th week by ultrasound and cordocentesis [TSH 170 microU/ml, free T(4) 0.2 ng/dl]. The therapeutic regime required repeated fetal blood sampling for determination of thyroid hormones. Five intra-amniotic administrations of 250 microg levothyroxine (LT4) weekly were initiated. Because of the persisting goiter and the elevated level of TSH (128 microU/ml in 32 weeks) in the fetal serum the dosage had to be adjusted to 500 microg LT4 in the next five injections. TSH in fetal serum declined to 49.2 microU/ml in 36 weeks. Normal fetal growth and an uncomplicated course of pregnancy between the 27th and 37th week of gestation were observed. Monitoring of intrauterine therapy by determination of TSH in fetal serum may provide more reliable data than measuring TSH in amniotic fluid. A review of 15 cases of fetal goitrous hypothyroidism in the English literature is presented.- - - - - - - - - - ranking = 0.0067931806381745keywords = gland (Clic here for more details about this article) |
8/79. Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia.We present two cases of pregnant women with a previous history of congenital adrenal hyperplasia. In both cases the only abnormal feature in the initial pregnancy had been increased nuchal translucency at 10-14 weeks of gestation. The fetal karyotype was normal and a diagnosis of congenital adrenal hyperplasia was made after delivery. In their current pregnancies, both fetuses also had increased nuchal translucency and normal fetal karyotype. Diagnosis of 21-hydroxylase deficiency was made prenatally by dna analysis. These findings in four affected fetuses suggest that congenital adrenal hyperplasia should be added to the list of genetic anomalies associated with an increase in nuchal translucency.- - - - - - - - - - ranking = 3.0213713881829keywords = adrenal (Clic here for more details about this article) |
9/79. prenatal diagnosis of cystinosis.cystinosis was diagnosed in a small quantity of cultured amniotic cells from a 22-week-old fetus by a modified pulse-labeling technique in which intracellular 35SL-cystine retention was measured. As a result of the above finding, the pregnancy was terminated by administration of prostaglandin. The diagnosis was confirmed when the nonprotein-free cystine content of the kidney, liver, placenta, spleen, thymus, and gut, as well as that of a large amount of cultured amniotic cells, was found to be 100-fold higher than normal levels.- - - - - - - - - - ranking = 0.0067931806381745keywords = gland (Clic here for more details about this article) |
10/79. Prenatal intracranial hemorrhage and neurologic complications in alloimmune thrombocytopenia.Neonatal alloimmune thrombocytopenia results from platelet-antigen incompatibility between mother and fetus, leading to antibody-mediated destruction of fetal platelets. With a prevalence of 1 in 1000 births, approximately 4000 infants born in the united states each year develop neonatal alloimmune thrombocytopenia. Ten to 20% of affected neonates develop intracranial hemorrhage, with 25 to 50% occurring prenatally. We report three infants who developed prenatal hemorrhage. One died in utero, and the other two had cerebral porencephaly and neurologic deficits. Infants with neonatal alloimmune thrombocytopenia have elevated risks of perinatal death and neurologic complications, including cerebral palsy, hypotonia, cortical blindness, developmental delay, seizures, and psychomotor retardation. We also report our retrospective review of the new england Medical Center neonatal intensive care unit between 1990 and 1999. Using current management guidelines, including treatment of the mother with a weekly infusion of high-dose (1-2 g/kg) intravenous immunoglobulin and/or corticosteroids, all eight infants with neonatal alloimmune thrombocytopenia did well.- - - - - - - - - - ranking = 0.0067931806381745keywords = gland (Clic here for more details about this article) |
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