Caudal regression syndrome versus sirenomelia: a case report.

We describe a newborn with clinical features of sirenomelia including fused lower limbs with medial position, absence of fibula, anal atresia, bilateral renal agenesis, and a single large umbilical artery. Recent literature describing the etiology of sirenomelia and relationship to caudal regression syndrome is reviewed.     

Ophthalmic manifestations of Allgrove syndrome: report of a case.

A male patient with the ocular manifestations of Allgrove or triple-A syndrome is described. The need for early diagnosis based on alacrima, anisocoria and optic atrophy of this potentially fatal condition is stressed.     

Rare clinical manifestations of primary peritoneal serous carcinoma presenting as colorectal cancer: A report of two cases

ObjectiveTo report two cases of for primary peritoneal serous carcinoma (PPSC) to present with gastrointestinal manifestations that mimic colorectal cancer.Case reportThere were two patients with initial presentations of fatigue with iron deficiency anemia, and tenesmus with bloody stool. Tumors of the ascending colon and rectum were detected by colonofiberoscope, and pathologic reports of tumor biopsies revealed adenocarcinoma of suspected gynecologic origin. Both patients underwent optimal debulking surgery without macroscopic residual tumor, and then received adjuvant carboplatin and paclitaxel chemotherapy with bevacizumab.ConclusionsPPSC can clinically present like primary colorectal carcinoma. The differential diagnosis requires special staining of several markers for tumor tissues.     

Pelvic hemangiopericytomas: a report of five cases and literature review

Five cases of pelvic hemangiopericytomas are reported. One of these tumors arose from the uterus, and four patients had extrauterine, pelvic hemangiopericytomas. The patient with a primary uterine hemangiopericytomas had only simple excision, and, after 6 years, is alive and free of disease. All four patients with extrauterine, pelvic hemangiopericytomas had incomplete resection of their tumors because of hemorrhage. However, pelvic radiation therapy was then employed in these patients and produced a complete regression in one patient and partial regression in two patients with minimal shrinkage in another patient. The latter patients were reexplored after pelvic radiation and underwent complete resection of their disease. Two patients developed pelvic recurrences at 2 and 9 years, respectively, and these were effectively resected. All four patients are all alive and free of disease 5 to 18 years later. If this lesion is unexpectedly discovered at laparotomy, our experience suggests that the resection should be discontinued and that they should be treated with pelvic radiation and delayed resection of persistent and recurrent pelvic tumors.     

Acrocallosal syndrome: report of five Turkish patients

Acrocallosal syndrome is characterized by agenesis of the corpus callosum, craniofacial anomalies, psychomotor retardation, and polydactyly. The clinical spectrum of this syndrome is broader than previous reports suggest. Five Turkish patients including dizygotic twins are reported.     

Necrotizing fasciitis after abdominal hysterectomy: a report on five cases

Necrotizing fasciitis, a severe soft tissue infection, was first described 80 years ago. It occurs rarely in obstetric and gynecology practice. We reviewed medical records of 2,894 women who had underwent an abdominal hysterectomy at the Social Security Agency Aegean Obstetrics and Gynecology Teaching Hospital between 2001 and 2005, and identified 5 (0.17%) cases of necrotizing fasciitis, which are described.     

First trimester diagnosis of sirenomelia: a case report and review of the literature

Sirenomelia sequence is a rare lethal pattern of congenital anomalies characterized by a number of hallmark skeletal anomalies, including fusion of the lower extremities or a single lower limb, bilateral renal agenesis or dysgenesis with absent or hypoplastic renal arteries, oligohydramnios, and the presence of aberrant vasculature. The etiology is still controversial. Prognosis is very poor, with the babies being stillborn or succumbing soon after birth. In the second trimester, oligohydramnios due to renal agenesis makes the diagnosis of sirenomelia difficult. Conversely, in the first trimester, the amniotic fluid volume is usually normal, unrelated to the fetal urine production. Therefore, a first-trimester or early second trimester anatomic survey of the fetus is proposed as preferable and more accurate for the diagnosis of this rare anomaly. In this article, we report a case of sirenomelia detected by two- and three-dimensional ultrasound in the 11th week of gestation and the associated literature is discussed.     

Dysgerminoma. A report of five cases

We analyzed five cases of pure dysgerminoma following the same schedule for the treatment, which were studied during the period of 1971 to 1983. The age of patients during the period of histological examination ranged from 15 years and 6 months to 28 years. All five patients had already had their "first menstruation". The above cases examined according to the clinical findings, the symptoms, the stage of the disease; the sort of treatment the place, the period and kind of therapy in case of reappearance of the disease and final survival.     

First-trimester diagnosis of sirenomelia. A case report

We report a case of sirenomelia diagnosed at 13 gestational weeks. This rare malformation sequence is characterized by fusion and rotation of the lower limbs to various degrees and anorectal atresia, usually associated with absence of bladder and agenesis or dysgenesis of the kidneys. Diagnosis is commonly made later in the second trimester of pregnancy with oligohydramnios as the alerting sign. Survival is extremely rare, and only possible in the absence of bilateral renal agenesis. In view of the dismal prognosis, early diagnosis allows for earlier and less traumatic therapeutic abortion.     

DOOR syndrome: report of three additional cases

Three new cases of DOOR syndrome are described in unrelated Brazilian children. One of these cases also has a congential cardiac defect. None of the cases has organic acid abnormalities and they can therefore be classified as Type II.     

Prenatal diagnosis of anatomo-pathologic aspects of 2 cases of sirenomelia

The antenatal echographic diagnostic aspects and anatomopathological features of two foetuses suffering from sirenomelia, or caudal pole regression syndrome, are examined. Conduction of the two cases is compared. In the first case, observed at the 22nd week, antenatal diagnosis of sirenomelia led to the therapeutic interruption of pregnancy. The second case, seen close to term, closed with the birth of an already dead sirenomelic foetus.     

Septate uterus with cervical duplication and longitudinal vaginal septum: a report of five new cases

OBJECTIVE: To describe a unique congenital müllerian anomaly. DESIGN: Case report. SETTING: A university-based reproductive endocrine center. PATIENT(S): Five reproductive-age, nulligravida patients who underwent clinical, radiologic, and surgical work-up. INTERVENTION(S): Retrospective review of prior medical records and studies. MAIN OUTCOME MEASURE(S): Definition of abnormal pelvic anatomy. RESULT(S): Five patients from a university-based, reproductive endocrine center were found to have cervical duplication with a longitudinal vaginal septum, uterine septum, and a normal fundus. The patients most often presented initially to their primary obstetrician-gynecologists with symptomatic complaints secondary to their vaginal septums. Diagnoses were obtained with physical examinations, ultrasound imaging, hysterosalpingograms, magnetic resonance imaging, and surgical evaluation. CONCLUSION(S): These findings call into question the classic hypothesis of unidirectional (caudal to cranial) müllerian development and supports an alternative embryologic hypothesis of Müller et al., which states that fusion and resorption begins at the isthmus and proceeds simultaneously in both the cranial and caudad directions. The high number of cases reported here might be due to the increased accessibility and accuracy of such imaging modalities as magnetic resonance imaging. These patients will be followed longitudinally so that it can be determined whether this anomaly affects fertility and so that the optimal treatment plans can be developed.