Circumaortic left renal vein: report of a case.

Circumaortic left renal vein is an uncommon anomaly which has not been previously reported in Taiwan. We describe a case of circumaortic left renal vein in a 15-year-old girl who presented with intermittent hematuria. Angiogram revealed double left renal veins in the form of a venous collar. Computed tomography depicted the preaortic and retroaortic left renal veins clearly. In a survey of hematuria, circumaortic renal vein should be taken into consideration in a differential diagnosis, and an appreciation of the specific radiologic findings can help to establish the diagnosis easily. In addition, preoperative recognition of this uncommon anomaly is of supreme importance in a retroperitoneal operation in order to avoid massive bleeding.     

Hernia uterus inguinale in a 46,XX female. A case report

BACKGROUND: Hernia uterus inguinale, a rare congenital anomaly, is usually found in hermophrodites. CASE: A case of lateral fusion defect associated with müllerian duct development in a young woman with primary amenorrhea and normal karyotype occurred. In our patient, bilateral müllerian duct systems were rudimentary and failed to fuse in the midline. The left horn of the uterus and ipsilateral ovary lay in the left inguinal canal. The right horn of the uterus, along with the tube and ovary, was intraabdominal. CONCLUSION: In the operative management of this rare anomaly, care must be taken to preserve and reposition the ovary in the abdominal cavity.     

Right thyroid hemiagenesis associated with papillary thyroid cancer and an ectopic prelaryngeal thyroid: a case report.

Failure of embryologic development of a lobe of the thyroid gland is a rare anomaly. We report a 47-year-old female with right thyroid hemiagenesis, papillary thyroid cancer, and an ectopic prelaryngeal thyroid rest. The preoperative diagnosis was made as a result of evaluating a progressively enlarging left thyroid mass by means of ultrasonography, technetium-99m thyroid scintigraphy, and fine-needle aspiration cytology. During the operation, an isthmus and an enlarged left lobe with a cancer mass 2 cm in diameter were found, and a solitary piece of thyroid tissue about 0.7 cm in length was present just below the hyoid bone. We conclude that recognition of this rare anomaly by means of both scintigraphy and ultrasonography is valuable for a complete thyroidectomy, and for avoiding unnecessary contralateral dissection and damage.     

Prenatal diagnosis of dilated coronary sinus with persistent left superior vena cava in a fetus with trisomy 18

A case of dilated coronary sinus with persistent left superior vena cava diagnosed at 33 weeks in a fetus with trisomy 18 is reported. The features of this cardiac anomaly on prenatal ultrasonography and its association with trisomy 18 are discussed. Published in 2003 John Wiley & Sons, Ltd.     

Hydronephrosis: A Rare Presentation of Uterine Didelphys with Obstructed Hemivagina and Ipsilateral Renal Anomaly

BackgroundObstructed hemivagina and ipsilateral renal anomaly syndrome is a Müllerian duct anomaly characterized by uterine didelphys, obstructed hemivagina, and ipsilateral renal anomalies.CaseA 12-year-old girl with a history of right renal agenesis presented to the emergency department with abdominal pain, dysuria, and urinary retention. Imaging identified a uterine didelphys with a large obstructed right hemivagina compressing the left ureter, causing hydronephrosis. She underwent vaginal septum resection for curative treatment.Summary and ConclusionIn female patients who present with abdominal pain and a history of renal abnormalities, obstructed hemivagina and ipsilateral renal anomaly syndrome must be considered in the differential diagnosis. This consideration is important in preventing complications such as hydronephrosis seen in this patient.     

Isolation of the left subclavian artery in a child with tetralogy of Fallot and right aortic arch.

Isolation of the subclavian artery is a very rare vascular anomaly in which the subclavian artery does not communicate with the aortic arch but instead is connected to the pulmonary artery by the ductus arteriosus. The subclavian steal phenomenon from the vertebrobasilar system into the pulmonary and subclavian arteries is usually persistent. We report an 18-month-old boy with an isolated left subclavian artery associated with tetralogy of Fallot and right aortic arch. Subclavian steal phenomenon in this patient resulted in symptoms of diminished pulse and blood pressure of the left arm. He underwent total correction of tetralogy of Fallot and ligation of the ductus arteriosus without reimplantation of the left subclavian artery. There was no substantial blood pressure difference between the upper limbs after the operation. In a patient with right aortic arch and diminished blood pressure or pulse in the left arm, isolation of the left subclavian artery should be included in the differential diagnosis.     

Acute Abdominal Pain as a Result of a Ruptured Hematosalpinx: A Rare Complication of an Unusual Müllerian Anomaly

Case ReportA 15-year-old virgin Caucasian female presented to the emergency room with a 40-hour history of acute left lower quadrant abdominal pain and nausea. Evaluation suggested a left pelvic kidney with obstructed ureter being the etiology. Her pain continued to escalate so further workup with laparoscopy was performed. This demonstrated a left pelvic sidewall hemi uterus with ruptured hematosalpinx. This is an unusual clinical presentation of a müllerian anomaly not previously documented.DiscussionThe differential diagnosis of acute unilateral abdominal pain in adolescent females should include müllerian anomalies. The incidence of this diagnosis is low but the evaluation and treatment can be performed in an expeditious manner if the diagnosis is considered. The laparoscopic excision of a unilateral noncommunicating uterine horn is a valid and recommended treatment approach of this rare malformation.     

A case of didelphic uterus and blind hemivagina with renal dysplasia and ectopic ureter presenting with vulvodynia and recurrent fever

Didelphic uterus with blind hemivagina and ipsilateral renal anomaly is a rare congenital malformation. The pathogenesis of this syndrome and its embryologic origin are still the subject of discussion. Due to the variable clinical picture and low index of suspicion, diagnosis is often delayed or inaccurate. Conservative surgical treatment—excision of the obstructing vaginal septum and marsupialization of the blind hemivagina—is considered the most appropriate treatment. This report describes the case of a 16-year-old girl with didelphic uterus and double vagina, with obstruction of the left hemivagina. The patient was also diagnosed with left renal dysplasia and ipsilateral ureter communication with the obstructed vagina. Following various examinations and left uretero-nephrectomy, the patient was effectively treated with resection of the vaginal septum.     

OHVIRA with a Twist: Obstructed Hemivagina Ipsilateral Renal Anomaly with Urogenital Sinus in 2 Patients

BackgroundOHVIRA syndrome is a rare diagnosis involving the triad of obstructed hemivagina, uterine anomaly, and ipsilateral renal anomaly. OHVIRA syndrome can be associated with other anomalies due to abnormal embryologic development of the urogenital system.CasesA 14-year-old female with known left renal agenesis, long-standing urinary incontinence, and history of recurrent urinary tract infections presented with abdominal distention.A 4-year-old female with known right renal agenesis and urinary incontinence was found to have a single common channel at the introitus that communicated with the bladder and a hemivagina on the left.Summary and ConclusionIt is important to identify the presence of a urogenital sinus in the OHVIRA setting, as surgical management for these patients may be affected. In both cases, the urogenital sinus was preserved as the vaginal opening.     

Prenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalis

OBJECTIVE: To report the first known case of 6p deletion presenting in utero with hydrops fetalis and multiple anomalies in the second trimester of pregnancy. METHODS: A thirty-year-old woman (gravida 3 para 1 abortion 1) was referred to our hospital at 18 weeks of gestation because of suspicion of fetal anomaly on routine ultrasound examination. A detailed anomaly scan revealed a single viable fetus with marked skin edema, marked ascites, pleural effusion, hydronephrosis of left kidney, absence of right kidney, cardiac anomaly and oligohydramnios. The fetal face was not visible due to the fetal position. Fetal karyotyping revealed 46,XX,del(6)(p21.3). The couple opted to terminate the pregnancy. RESULTS: A hydropic female fetus was aborted and the autopsy revealed hydrops fetalis with bilateral cleft lips, hydronephrosis of left kidney, absence of right kidney, spleen, and thymus gland, truncus arteriosus, and single umbilical artery. Cord blood and tissue culture confirmed that the fetus had deletion of chromosome 6p. CONCLUSION: Deletion of short arm of chromosome 6 can result in hydrops fetalis in early pregnancy.     

The BOR syndrome and renal agenesis--prenatal diagnosis and further clinical delineation

This is the first report of prenatal diagnosis of a fetus with brachio-oto-renal dysplasia (BOR) syndrome with right-sided renal agenesis and severe left hypoplasia. The father of this fetus had malformed external ears, a left-sided preauricular pit and branchial cyst, and bilateral mild to moderate deafness without a demonstrable renal anomaly. This family highlights the variable expressivity seen in the autosomal dominant BOR syndrome, the importance of genetic counselling for families with BOR syndrome, and the aetiologic heterogeneity of renal agenesis.     

Successful Pregnancy in a Patient with Previous Bladder Exstrophy

EDITORIAL COMMENT: Usually we do not accept anecdotal case reports for publication. Chambers twentieth century dictionary defines an anecdote as 'a short narrative of an incident of private life'. Readers can decide if this case is anecdotal. There appears to be a lot left unsaid about this woman's private life, if not her private pans. She was admitted to hospital as a nonbooked emergency case in labour. The symphyseal separation shown in figure 2 clinched our decision to accept the case for publication. The editor did not see such a case in 38 years of obstetrics practice.
Summary: Bladder exstrophy is an unusual congenital anomaly. Patients becoming pregnant with such anomaly after surgical repair are even rarer. The present case reports a lower segment Caesarean section delivery of a living healthy baby in a woman who had been operated on for bladder exstrophy at the age of 18 years. This is the first case of this type seen in our institution in 35 years.     

Fetal tissue typing in anticipation of neonatal heart transplantation

Background: Hypoplastic left heart syndrome is among the most common major congenital cardiac anomalies. Fetuses with this anomaly survive but require either reconstructive surgery or heart transplantation postnatally.Case: A woman whose fetus was diagnosed with hypoplastic left heart syndrome underwent funipuncture for fetal tissue typing. The fetus then was listed for heart transplantation. Once an ABO-compatible donor heart was procured, the fetus was delivered and immediately underwent transplantation.Conclusion: In candidates for neonatal heart transplantation, fetal tissue typing allows the search for an ABO-compatible donor heart to begin earlier. This approach minimizes the morbidity associated with postnatal waiting and allows transplantation to take place while the neonate is less immunocompetent.     

Bilateral congenital posterolateral diaphragmatic hernia

A female neonate with bilateral congenital posterolateral diaphragmatic hernia is presented. The correct diagnosis was established only after repair of the left hemidiaphragm. Repair of the right hemidiaphragm failed to prevent a downhill course with progressive respiratory failure which led to her death. This extremely rare anomaly is discussed in view of the complex embryological development of the diaphragm.     

Sick sinus syndrome in a patient with single coronary artery anomaly.

Single coronary artery anomaly is very rare. The reported manifestations include angina pectoris and congestive heart failure. Here we describe a case of single coronary artery anomaly presenting as sick sinus syndrome, which has no literature precedence. A 47-year-old woman had complained of intermittent dizziness for years. A Holter electrocardiogram showed sinus bradycardia and junctional or ventricular rhythm with a maximal ventricular pause of up to 3.2 seconds. Electrophysiologic study revealed prolonged corrected sinus nodal recovery time. Coronary angiography showed that the left anterior descending artery had a long course with a side branch originating from the proximal part and coursing anteriorly to the territory of the proximal portion of the right coronary artery. The sinus node is usually supplied by the sinoatrial branch via the right coronary artery. Aortography showed that the right coronary artery ostium was absent. A permanent pacemaker was implanted and the patient was discharged in good condition. The present case suggests that coronary artery anomaly may lead to compromised blood supply to the sinus node, and hence sick sinus syndrome.     

Neuhauser syndrome and Peters' anomaly

We report a 9-month-old boy with major features of Neuhauser syndrome, including megalocornea, mental motor retardation, hypotonia, dysmorphic findings (high-arched palate, broad nasal bridge, epicanthus), who also had additional findings such as Peters' anomaly, microcephaly, undescended testicle, patent ductus arteriosus and atrial septal defects. Ophthalmologic examination demonstrated central opacity of the left cornea and lens and iris adhesions extending from the pupillary margin to the borders of the opacity. Keratoplasty operation was done for the right eye owing to central corneal opacity. Neuhauser syndrome should be considered in the differential diagnosis of the patients with megalocornea, hypotonia and mental and motor retardation who have dysmorphic findings. To the best of our knowledge, Peters' anomaly has not been reported in Neuhauser syndrome previously.     

Successful Pregnancy in an Adolescent Woman with a Communicating Double Uterine Anomaly

BACKGROUND: Women with communicating double uterine anomalies are at increased risk for obstetric complications, including early pregnancy loss, preterm delivery, and breech presentation. We present the pregnancy of a woman with a previously diagnosed communicating double uterine anomaly. CASE: An 18-yr-old white female with a previous diagnosis at age 11 of a communicating double uterus, double cervix, and obstructed left hemivagina was followed during the course of her pregnancy. She experienced no complications until 36 6/7 weeks, when she was found to have signs and symptoms of mild preeclampsia. The fetus was in a breech presentation and a cesarean section was performed. Two hemiuteri were identified intraoperatively. The communication was not visualized. A viable male infant was delivered without complications. CONCLUSION: This patient represents only the sixth report of successful pregnancy in a woman with a Toaff type 5A communicating uterine anomaly.     

Poland's syndrome with spontaneous pneumothorax: report of two cases.

Poland's syndrome is an uncommon congenital anomaly of the chest wall characterized by the absence of the pectoralis major muscle and other nearby musculoskeletal components. Many associated aberrations over the thoracic cage, intrathoracic organs, and upper limbs have been reported. However, spontaneous pneumothorax in these patients has not been reported. Here, we describe two patients with both Poland's anomaly and spontaneous pneumothorax. One patient was a 16-year-old boy with left chest wall hypoplasia and pneumothorax on the right side. The other was a 27-year-old man with right chest wall hypoplasia, hand brachydactyly, and pneumothorax. Pneumothorax in both patients was treated with bullectomy and mechanical pleurodesis with the aid of videothoracoscopy, and the postoperative courses were smooth. Blood supply disruption has been hypothesized as a pathogenic mechanism of both spontaneous pneumothorax and Poland's syndrome, suggesting an association between these two diseases.     

Diverticulum of the right ventricle associated with pulmonary stenosis, rhabdomyoma and Wolff-Parkinson-White syndrome.

Congenital cardiac diverticulum is a rare anomaly that may present as an isolated lesion or in association with other malformations. Diverticulum of the left ventricle is more common than that of the right ventricle. We report a case of cardiac diverticulum over the right ventricular outflow tract and associated pulmonary stenosis, right atrial rhabdomyoma, and Wolff-Parkinson-White syndrome in a 9-month-old boy. The delta wave disappeared after removal of the atrial rhabdomyoma.