Antenatal differential diagnosis of congenital chloride diarrhea: a case report

Congenital chloride diarrhea (CCD) is a rare disease characterized by profound, watery diarrhea. It is inherited as an autosomal recessive trait and is caused by a dysfunction of electrolyte transport in the brush border of the ileum. CCD is a medically treatable condition but is frequently misdiagnosed as a surgically treatable condition, such as bowel obstruction, because of similar antenatal ultrasonographic findings. Therefore, a correct diagnosis is of upmost importance before treatment initiation. Although some methods for antenatal differential diagnosis were reported, antenatal diagnosis of CCD remains difficult. Here, we report the case of a patient with CCD, which was presumed antenatally and confirmed postnatally. We also discuss the results of antenatal ultrasonography and amniocentesis and provide some tips regarding ultrasonographic findings for the antenatal differential diagnosis of CCD. Further, we present a brief literature review.     

Malignant fibrous histiocytoma - case report for differential diagnosis of ovarian tumour (author's transl)

An operation was performed on a patient, 36 years of age, for a large tumour in the lower abdominal region. On laparotomy, the surgical team was surprised at discovering a retroperitoneal tumour, 1100 g in weight, which was histologically identified as a malignant fibrous histiocytoma.     

Hysteroscopic diagnosis and treatment of endocervical ossification: a case report

We describe a case of osseous metaplasia into the cervical canal in a 41-year-old woman. The patient had a history of primary infertility, pelvic pain, chronic endocervicitis, and bone formation in the upper third of the cervical canal. After antibiotic therapy, we removed bone fragments by operative hysteroscopy using grasping forceps. The fragments were completely removed with no evidence of recurrence at 1-year follow-up. Chronic endocervicitis may cause endocervical ossification and should be ruled out before surgical removal of bone fragments in order to ensure definitive resolution and prevent recurrence.     

Prenatal diagnosis and treatment of fetal long QT syndrome: a case report

We report a case of a fetus presenting with bradycardia, intermittent atrioventricular (AV) block, ventricular tachycardia (VT) and the signs of fetal congestive heart failure (ascites and scrotal hydrocele) during mid-gestation. Prenatal treatment with beta-adrenergic blocker (propranolol) and digitalis glycosides was prescribed because of suspicion of long QT syndrome occurring with fetal congestive heart failure. The male baby was born at 39 weeks of gestation and showed a prolonged QT interval (QTc = 492 ms) and frequent variable AV block or alternating left and right bundle branch block, depending on the atrial rate. Prenatal administration of lidocaine failed to correct the fetal VT. Conversely, propranolol decreased the attack frequency of fetal VT. Postnatal administration of the K(+) channel opener (nicorandil) successfully shortened the QT interval and improved the outcome.     

Paraurethral cyst as an unusual cause of acute urinary retention. A case report

Acute urinary retention occurs rarely in women. Previously reported causes include anatomic defects, perineal pain, behavioral disturbances and psychiatric disorders. A patient presented with acute urinary retention secondary to an infected paraurethral cyst.     

Microphthalmia--prenatal ultrasonic diagnosis: a case report

Prenatal real-time ultrasonographic diagnosis of microphthalmia is presented. Diagnosis was made at 18 weeks' gestation in a fetus of a patient with a previous infant affected with the syndrome of cryptophthalmia with absence of septum nasi and ambiguous genitalia (Fraser syndrome). Recognition of microphthalmia as a part of Fraser syndrome and the easy visualization of fetal facial bones and orbits in the second trimester made the diagnosis possible.     

Cyclopia (case report)

The authors describes an at-term stillborn, weighing 3900 g, with a total cyclopia, having one single orbita and one eye in the middle of the face. Obduction revealed several congenital defects in the cerebrum and the cerebellum.     

Prenatal sonographic diagnosis of an oropharyngeal teratoma (epignathus) on a stillborn infant: a case report

Oropharyngeal teratomas are rare congenital malformations that arise from all three basic germinal layers and form a high risk situation for the neonate. Their incidence is only sporadic and they are not associated with a high recurrence risk, although some cases of associated chromosomal aberrations have been described. In this case report we present the clinical course and the histopathological findings of a prenatal diagnosed stillborn infant with an oropharyngeal teratoma of the left maxilla by a 33-year-old primigravida woman at 40 weeks 5 days' gestation. Moreover we emphasize on the relevance of the prenatal diagnosis and visualisation of such fetal tumors not only because of their great importance on the obstetrical management but also for their critical contribution to the optimal treatment of the affected newborn.     

Restrictive dermopathy: case report, subject review with Kaplan-Meier analysis, and differential diagnosis of the lethal congenital contractural syndromes

We report on a 34-week-old infant with restrictive dermopathy (RD), a rare lethal genodermatosis, characterized by an abnormal skin growth and differentiation with thin, tightly adherent skin that causes a dysmorphic face, generalized flexion joint contractures, and respiratory insufficiency. Kaplan-Meier analysis of 32 previously well-described infants affected with RD showed a median survival of 132 hours. Lethal congenital contractural syndromes, including Pena-Shokeir phenotype, cerebro-oculo facio-skeletal syndrome, and lethal multiple pterygium syndrome, should be considered first in the differential diagnosis. Other lethal contractural syndromes are discussed.     

Ultrasound diagnosis of hematotrachelos: a case report

Hematotrachelos, the engorgement of the cervix uteri with retained blood, is discussed with reference to clinical presentation, ultrasonographic findings, and etiologies. Other disease processes related to hematotrachelos such as hematometra, hematocolpos, and hydrocolpos are also reviewed.