Search results for "Polyhydramnios"
showing 7 items of 7 documents
Gastric outlet obstruction in a neonate because of Peutz-Jeghers syndrome
2012
Neonatal detection of Peutz-Jeghers syndrome is unusual with only 2 cases previously reported in the literature. We describe a neonate presenting with gastric outlet obstruction owing to 2 large Peutz-Jeghers polyps. The child's father and grandmother were known to have Peutz-Jeghers syndrome. On the ninth day of life, the infant underwent colonoscopy, abdominal exploration, and complete surgical resection of 3 polyps. The postoperative course was uneventful, and the patient was discharged home at the age of 3 weeks on full oral feeds. This is the first case report of inherited Peutz-Jeghers syndrome causing gastric outlet obstruction in a neonate.
Non-Immune Goiter and Hypothyroidism in a 19-Week Fetus: A Plea for Conservative Treatment
2009
Hypothyroidism was documented by cordocentesis at 19 weeks in a fetus with non-immune goiter. Intra-amniotic thyroxine was injected at 25 weeks when amniotic fluid volume increased. Psychomotor outcome was normal. We argue that intra-amniotic thyroxine should not be used to treat the hypothyroidism but only to correct the development of polyhydramnios.
Intrauterine therapy of goitrous hypothyroidism in a boy with a new compound heterozygous mutation (Y453D and C800R) in the thyroid peroxidase gene. …
2004
We report the results of intrauterine L-thyroxine therapy, and the long-term follow-up in a fetus who presented at 32 weeks' gestation with goitrous hypothyroidism, hyperextension of the neck, and polyhydramnios. Spontaneous delivery was possible and hypothyroidism improved. Molecular analysis revealed a new compound heterozygous mutation (Y453D/C800R) in the TPO gene.
[Fetal pseudohypoaldosteronism: rare cause of hydramnios].
2005
PHA is a rare cause of hydramnios, characterized by increased amniotic fluid levels of aldosterone and sodium. Two distinct genetic entities (PHA type I and PHA type II) are included. Both are stemmed by a target organ defect with diminished renal tubular responsiveness to aldosterone. The AA present a case in which pregnancy resulted in a preterm infant with severe hydramnios, metabolic acidosis, hyponatriemia, hyperkaliemia. Salt and fluid replacement significantly improved clinical and metabolic condition. However a growth deficiency (-2 SDS) persists at follow-up.
Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings
2005
Glycogenosis type IV is an autosomal recessive disease, exceptionally diagnosed at birth: only very few reports of the fatal perinatal neuromuscular form have been described. We report on two sibling male newborns who died at 10 and 4 weeks of age with clinical signs of a systemic storage disease. Prenatal history included polyhydramnios, reduced fetal movements and fetal hydrops, and Caesarean section was performed at 36 weeks of gestational age because of fetal distress. At birth, both babies showed severe hypotonia, hyporeflexia and no spontaneous breathing activity. They never showed active movements, sucking and swallowing and were respirator-dependent until death. A muscle biopsy reve…
Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998).
2002
Prevalence rates of birth defects in the Federal Republic of Germany are informative to assess the general background risk of having a child with a birth defect. They provide basic figures to determine temporal and regional prevalence trends, to evaluate and initiate preventive measures and to initiate research projects. To avoid observer, definition and collection bias, active monitoring systems are required. Data collected in the active monitoring system of the Mainz Birth Defects Registry are presented. From 1990-1998, 30,940 live-births, stillbirths and abortions underwent standardized physical and sonographic examinations. Anamnestic data were collected from prenatal care records, mate…
Perlman syndrome: Clinical report and nine-year follow-up
2005
We present the clinical and follow-up data of a female infant with Perlman syndrome from birth to the age of 9 years. Main features of Perlman syndrome include polyhydramnios, fetal overgrowth, neonatal macrosomia, macrocephaly, dysmorphic facial features, visceromegaly, nephroblastomatosis, and a predisposition for Wilm's tumor. In our patient, the nephromegaly with nephroblastomatosis was not present at birth or during the neonatal period; it became evident in the first months of postnatal life. A Wilm's tumor was diagnosed when she was about 1 year old. Long term follow-up documents the natural history of Perlman syndrome and allows us to establish the long-term prognosis of the affected…