Echocardiographic and Three-Dimensional Computed Tomographic Diagnosis of Crossed Pulmonary Arteries: Report of Three Cases

Crossed pulmonary arteries are rare anomalies of the pulmonary trunk and its branches. In this anomaly, the ostium of the left pulmonary artery originates superiorly and to the right of the right pulmonary artery. This anomaly is usually associated with other congenital cardiac and extracardiac diseases. We report three neonates with congenital cardiac diseases who had this anomaly, which was detected first by echocardiography and then confirmed by cardiac three-dimensional computed tomography.     

Minimally invasive surgical approach to excision of symptomatic ectopic inverted-Y ureteral duplications

Inverted-Y ureteral duplications are a rare duplication anomaly with few cases reported in the literature. We report a novel minimally invasive approach to managing inverted-Y duplications in two females who presented with continuous urinary incontinence and were found to have an ectopic insertion of the duplicated ureter. The ectopic segment was excised laparoscopically without complication in the outpatient setting with resultant cure of the continuous incontinence. This represents the first report of a laparoscopic approach to this rare anomaly.     

Transverse testicular ectopia: preoperative diagnosis by ultrasonography

Transverse testicular ectopia (TTE) is a rare anomaly. We report the first case of TTE described in Taiwan. The physical examination, ultrasonography (US), and laparoscopy revealed both testes in the left hemiscrotum, and surgical correction was performed. This case was diagnosed preoperatively by US, which can offer an easy, safe, and convenient alternative in the preoperative diagnosis of TTE. The possible mechanism for this anomaly and the literature are reviewed. Accepted: 17 June 1999     

Triple X syndrome with rare phenotypic presentation

Triple X syndrome is a rare numerical chromosomal anomaly, occurring as a result of non dysjunction in meiosis I. Most cases have neurodevelopmental defects and functional problems. We report two cases diagnosed in our centre. The first was a fetus with cleft lip and palate, 47, XXX was identified by Fetal Blood Sampling. The second was a child with multisystem anomaly including cleft lip and palate, whose karyotype also revealed 47, XXX. Though isolated cases of associated abnormalities have been reported there have not been consistent phenotypic changes reported with this condition.     

Fetus-in-fetu

Fetus-in-fetu (FIF) is a rare congenital condition first described in early nineteenth century. In this anomaly, a malformed parasitic twin is found within the body of its partner. Less than 100 cases have been described in the English-language literature.     

Inhaled Nitric Oxide Therapy in a Critically Ill Neonate with Ebstein's Anomaly

The successful use of nitric oxide (NO) inhalation in a critically ill neonate with Ebstein's anomaly of the tricuspid valve is reported for the first time. This use of inhaled NO therapy suggests a therapeutic intervention that directly addresses the pathophysiologic process of severe neonatal Ebstein's anomaly.     

Congenital bronchobiliary fistula: MRI appearance

Congenital bronchobiliary fistula (CBBF) is a rare anomaly. Twenty-three cases have been reported since the anomaly was first described in 1952. Most of these cases were diagnosed by bronchoscopy, cholangiography, or hepatobiliary nuclear imaging. Our case of a newborn with bilious emesis with CBBF was depicted by T1-weighted gradient-echo MRI sequences.     

Familial ectopia lentis with Axenfeld-Rieger anomaly

Three siblings with ectopia lentis were examined for associated abnormalities. Case 1 had Axenfeld-Rieger anomaly and retinal detachment. Case 2 had Axenfeld-Rieger anomaly, ciliary staphyloma, and glaucoma. Case 3 had no associated ocular abnormality. The parents had normal eyesight. This is the first report of ectopia lentis associated with Axenfeld-Rieger anomaly. The mode of inheritance is likely autosomal recessive.     

Vascular ring formed by right aortic arch with aberrant left subclavian artery and left ligamentum arteriosum: a rare cause of respiratory distress in newborn infants

Vascular ring, in which the trachea and esophagus are completely surrounded by vascular structures, is one of the causes of respiratory distress in children. Right aortic arch with aberrant left subclavian artery is a common aortic arch anomaly; however, respiratory distress due to vascular ring is seldom associated with this anomaly. We report herein a newborn infant treated surgically because of severe respiratory distress caused by vascular ring formed by right aortic arch with aberrant left subclavian artery and left ligamentum arteriosum. As laryngomalacia was first thought to be the reason for respiratory distress, we suggest that patients with respiratory distress diagnosed with laryngomalacia be evaluated for possible vascular ring.     

A child with chromosome 22q11.2 deletion syndrome and a bilobed gallbladder

We present an 11-year-old girl with a chromosome 22q11.2 microdeletion, velocardiofacial syndrome (VCFS), and a bilobed gallbladder as an incidental finding on abdominal sonography. The finding was confirmed by magnetic resonance cholangiopancreatography (MRCP).This is the first report of a gallbladder anomaly associated with a chromosome 22q11.2 deletion and the second report of a biliary tract anomaly associated with a mutation in the chromosome 22q11 region. We suggest that close attention be paid to the anatomy of the biliary tree in patients with mutations in the chromosome 22q11 region. Further study is warranted to determine the range and prevalence of biliary tract anomalies in this population.     

Severe Ebstein’s Anomaly Can Benefit From a Small Ventricular Septal Defect: Two Cases

Ebstein’s anomaly is a rare congenital heart defect. Associated lesions are uncommon, and the mortality rates can be as high as 54% during the first month of life. Two cases of severe Ebstein’s anomaly with ventricular septal defect are described. It is speculated that this rare association, allowing adequate forward pulmonary blood flow in the neonate, permitted the reported patients to survive the neonatal period, which is the most life-threatening time. The authors propose that the presence of a small ventricular septal defect can be beneficial for such patients, averting the need for surgery during early infancy when the risk is highest.     

Isolated Innominate Artery in 22q11 Microdeletion

A patient with an isolated left innominate artery (with a right-sided cervical aortic arch) is described. This is the first report of such an anomaly associated with chromosome 22q11 microdeletion. The abnormality represents an interruption in the primitive aortic arch that is atypical for this chromosome deletion.     

Oculocerebrocutaneous syndrome

The authors describe a patient with oculocerebrocutaneous syndrome, also called Delleman-Oorthuys syndrome. This patient is the first reported case in Turkey. The 19-month-old boy had characteristic features of oculocerebrocutaneous syndrome, such as unilateral orbital cyst, skin tags and skin hypoplasia, hypoplastic left cerebellar hemisphere, Dandy-Walker variant anomaly, corpus callosum agenesis, and left cerebral hemispheric diffuse migration anomaly.     

Body stalk anomaly in monozygotic twinning: a case report

We describe a case of concordant body stalk anomaly in a monozygotic twin. Autopsy of the fetus showed abnormalities compatible with the maldevelopment of embryonic folding. Abdominal viscera were in a sac covered by the amnion and were attached directly to the placenta. The anus was not visible and no discernible external genitalia were noted. Other findings included a neural tube defect and a rectal duplication as an enteric cyst. Umbilical cord had only one vein and an artery. No abnormalities were found on pathologic examination of the placenta. Although we encountered cases previously with gastroschsis and omphalocele, this was the first case of body stalk anomaly that we recognized as an enteric cyst, which is extremely rare in twins.     

Tetralogy of Fallot with Persistent Fifth Aortic Arch: Echocardiographic Diagnosis

Although persistent, fifth aortic arch (P5A) is an uncommon anomaly. Its incidence is unknown due largely to failure of recognition. Fundamental to its diagnosis is an adequate understanding of the various settings in which P5A may manifest. One of the more frequently reported manifestations of this unusual anomaly is a systemic-to-pulmonary connection in the presence of pulmonary atresia, with or without a ventriculoseptal defect. This report describes a new case of P5A in an infant with tetralogy of Fallot but not pulmonary atresia, which was diagnosed echocardiographically. The echo-Doppler characteristics of P5A in the presence of right ventricular outflow obstruction are described, and the implications regarding surgery for the accompanying defects are discussed. To the authors’ best knowledge, the described case is the first reported instance of P5A in this specific setting.     

Right pulmonary artery--left atrial communication presenting with brain abscess: a case report

Direct communication between the right pulmonary artery and left atrium is a very rare vascular malformation. We report a patient with this anomaly. She presented with unexplained cyanosis and brain abscesses. The diagnosis was made with contrast echocardiography and angiography. We treated this anomaly successfully with surgery. Complete cure for this anomaly can be achieved by ligation.     

Agenesis of the urinary bladder with cutaneous ectopic ureteric orifice and multiple birth defects

This is to our knowledge the first case in the world literature of a livebom baby with a tubular colonic duplication, agenesis of the urinary bladder, urethral atresia, and a single pelvic kidney with its ureter opening directly onto the skin in the region of the natal cleft. A brief review of the embryology is included and an attempt is made to explain the embryologic basis for this anomaly.     

Ring Chromosome 7: Report of a Case

A 5-month-old girl with a ring chromosome 7 [46, XX, r(7) (p22q36)I is presented. She was the fifth and youngest patient with this chromosomal anomaly, and the first instance whose chromosomal breakpoints were determined by high resolution banding analysis, Numerous café-au-lait-like pigmentation spots and hypoplasia of the thenar creases were observed.     

Trisomy 6 with choanal atresia. The first Italian case]

The authors report the first Italian case (second in the world) of partial trisomy syndrome of chromosome 6. All the essential signs were present, in addition to choanal atresia, reported only once before in Italy. The phenomenological picture of this extremely rare anomaly is in the process of being completed by successive reports.     

Perineal canal: a simple method of repair

A perineal canal is a rare congenital, external cloacal anomaly. It is either low or high. We treated a girl with a low anomaly by excising the canal and letting it to granulate from the bottom up. We believe that this method is simple and that recurrence of this anomaly is avoided. Correspondence to: A. Ismail