3-D MR imaging of ectopia vasa deferentia

Ectopia vasa deferentia is a complex anomaly characterized by abnormal termination of the urethral end of the vas deferens into the urinary tract due to an incompletely understood developmental error of the distal Wolffian duct. Associated anomalies of the lower gastrointestinal tract and upper urinary tract are also commonly present due to closely related embryological development. Although around 32 cases have been reported in the literature, the MR appearance of this condition has not been previously described. We report a child with high anorectal malformation who was found to have ectopia vasa deferentia, crossed fused renal ectopia and type II caudal regression syndrome on MR examination. In addition to the salient features of this entity on reconstructed MR images, the important role of 3-D MRI in establishing an unequivocal diagnosis and its potential in facilitating individually tailored management is also highlighted.     

Adrenal Fusion

Fusion of the adrenal glands is a rare congenital anomaly. The six cases described here were encountered in 3537 pediatric-perinatal autopsy cases. A fused adrenal was always associated with multiple congenital anomalies, including major central nervous system malformations in four cases, renal agenesis in three cases, anomalies of internal genitalia in three cases, and complex cardiac anomalies in two cases. The fused adrenal had either a horseshoe or butterfly shape. Neither adrenal hypoplasia nor hyperplasia appeared to be present, and the histologic appearance of the fused adrenal was normal in all cases. Received July 10, 1997; accepted December 22, 1997.     

Mayer-Rokintansky-Kuster-Hauser syndrome associated with atrial septal defect, partial anomalous pulmonary venous connection and unilateral kidney--an unusual triad of anomalies

Mayer Rokintansky-Kuster-Hauser syndrome is characterized by the congenital absence of the vagina with a variety of Müllerian duct anomalies. Because of normal sexual development, the syndrome usually remains undetected until primary amenorrhea and/or difficulty in attempting sexual intercourse result in the diagnosis. MRKHS frequently is associated with anomalies of the urinary tract (unilateral agenesis, or ectopia of one or both kidneys, horse-shoe kidney), cervico-thoracic region (asymmetric, fused or wedged vertebrae, scoliosis and Klippel-Feil anomaly), congenital cardiac defects, hearing defects, and digital anomalies of varying severity. Congenital heart diseases in the form of atrial septal defect, Holt-Oram Syndrome with or without aorticopulmonary window, pulmonary stenosis etc in association with MRKHS have been described in the literature. We present a case of MRKHS with unilateral agenesis of the kidney and atrial septal defect with partial anomalous pulmonary venous connection. This combination of anomalies has not been reported in the literature so far. The various presentations and the pathogenesis of the condition are discussed.     

Caudal regression syndrome - caudal agenesis

BACKGROUND: Neural tube defects are caused by complex genetic and environmental factors. The congenital anomaly most specific to pregnant women with diabetes mellitus is caudal regression syndrome. PATIENT: A 4-year-old boy with a history of mild delay in motor development presented with primary enuresis and encopresis. On physical examination, he had no sensory and motor deficits, but a short anal cleft. On questioning, the mother reported insulin-dependent diabetes mellitus during pregnancy. MRI of the spinal cord demonstrated a thoracic syringomyelia, a dysplastic conus medullaris, and an absence of coccyx and distal sacrum, called caudal regression syndrome or caudal agenesis. CONCLUSION: The caudal regression syndrome refers to sacral agenesis associated with spinal cord anomalies, e.g. syringomyelia. Sacral agenesis is marked by total absence of the coccyx and total or distal absence of the sacrum. An abnormal backside combined with a history of maternal diabetes mellitus in pregnancy is highly suggestive for the presence of caudal regression syndrome.     

Four-vessel umbilical cord associated with multiple congenital anomalies: a case report and literature review

A case is described of a neonate with a four-vessel umbilical cord containing two arteries and two veins. This was due to a rare persistence of the caudal portion of the right umbilical vein. The infant had multiple congenital anomalies including a complete atrioventricular canal, an interrupted inferior vena cava, a double superior vena cava, a left ventricular hypoplasia, dextrocardia, situs ambiguous, and malrotation of the small bowel. The birth of an infant with a four-vessel cord mandates comprehensive work-up for associated anomalies. The literature is reviewed.     

Congenital absence of the portal vein associated with congenital hepatic fibrosis

The radiological features of a 7-year-old boy with congenital absence of the portal vein, pathologically proven congenital hepatic fibrosis, double inferior vena cava, ventricular septal defect, vertebral anomalies, crossed fused renal ectopia, and facial anomalies with pathological correlation are reported. This association between congenital absence of the portal vein and congenital hepatic fibrosis is unique.     

Colonic duplication: diagnostic dilemma.

Colonic duplication is a rare congenital anomaly which presents as a diagnostic and therapeutic challenge. We report a 5-year-old boy with colonic duplication who required multiple hospital admissions, multiple diagnostic tests, and evaluation by various clinical specialists before the diagnosis was made intraoperatively. He was known to have left renal hypoplasia, low spinal abnormalities, hypoplasia of the left hemipelvis, and mild hypoplasia of the left lower limb, all of which were considered to be a variant of caudal regression syndrome.     

Jarcho-Levin syndrome presenting with diaphragmatic hernia.

Jarcho-Levin syndrome (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and multiple vertebral anomalies. The prognosis is directly related to respiratory complications. Reported findings associated with Jarcho-Levin syndrome include congenital heart defects, abdominal wall malformations, genitourinary malformations, upper limb anomalies, and neural tube defects. We report on a 6-day-old girl who presented with an incomplete form of Jarcho-Levin syndrome with late-presenting congenital diaphragmatic hernia and congenital heart disease.     

Rectal duplications accompanying rectovestibular fistula: Report of two cases

Rectal duplication (RD) cysts are rare congenital anomalies that can be diagnosed with the presence of another opening in the perineum. They seldom accompany anorectal malformations (ARM). Two cases of RD accompanying ARM at opposite ends of the phenotypic spectrum, are described. A 3‐month‐old baby and a 2‐year‐old girl with ARM were scheduled for posterior sagittal anorectoplasty. The infant had an orifice at the anal dimple and the other had an orifice at the vestibulum posterior to the rectovestibular fistula. The infant presented with no other anomalies whereas the older one presented with an unusual coexistence of caudal duplication and caudal regression syndromes. Perioperatively both orifices were found to be related to retrorectal cysts, and were excised. Clinicians should always be alert when dealing with complex malformations. Because these malformations have variable anatomical and clinical presentations, they can represent a diagnostic and therapeutic challenge.     

A case report of caudal regression syndrome associated with an intraspinal arachnoid cyst

We report here a rare case of caudal regression syndrome associated with an intraspinal arachnoid cyst. The patient was a 6-month-old baby girl with multicomplex congenital abnormalities: sacrococcygeal dysgenesis and ventral curvature, large terminal cyst (myelocystocele), spinal arachnoid cyst, cerebellar hypertrophy (suspected), high imperforate anus, partial dysgenesis of the large intestine, omphalocele, atresia of the vagina, bilateral incomplete ureter duplication, incomplete pseudoduplicated bladder and bilateral talipes equinovarus. We performed plastic repair of the myelocystocele and perineal lesion for caudal regression syndrome and partial removal of the cyst wall for the intraspinal arachnoid cyst. She has been well for 3 years postoperatively, and her mental development is normal.     

Supernumerary umbilical vein in a hydropic neonate with hypertrophic cardiomyopathy

The anomalies of the umbilical vessels are uncommon, with the exception of a single umbilical artery. We report a term female infant with fetal hydrops, hypertrophic cardiomyopathy, and a four-vessel umbilical cord consisting of two umbilical arteries and two umbilical veins. The presence of two veins in the umbilical cord has been attributed to persistence of both the normal left umbilical vein and the caudal part of the right umbilical vein. This fetal vascular pathology has been reported very rarely and may be associated with increased risk of congenital malformations and adverse perinatal outcome.     

Ureteral triplication: a rare anomaly with a variety of presentations

Ureteral triplication remains a very rare congenital malformation of the urinary tract with a wide spectrum of presentation. The sporadic nature of this condition and its association with other anomalies makes evidence-based management difficult. We report two cases of triplication in association with the VACTERL syndrome, one developing pelvi-ureteric junction obstruction and the other vesico-ureteric reflux.     

Mermaid syndrome with amniotic band disruption

An association of Amniotic Band Disruption Sequence and Mermaid Syndrome in a newborn having multiple congenital anomalies is being reported. The newborn had aberrant string like tissues attached to the amputed fingers and toes. Adhesions of amniotic bands had disrupted the fetal parts especially anteriorly in the midline, causing multiple anomalies. Apart from these features of Amniotic Band Disruption Sequence, the newborn had complete fusion of the lower limbs by cutaneous tissue, a characteristic of Mermaid Syndrome (Sirenomelia). Associated malformations were anal stenosis, rectal atresia, small horseshoe kidney, hypoplastic urinary bladder and a bicornuate uterus. The single umbilical artery had a high origin, arising directly from the aorta just distal to the celiac axis, which is unique to sirenomelia. Theories put forward regarding the etiopathogenesis of both the conditions are discussed     

Bilateral communicating bronchopulmonary foregut malformations in an infant with multiple congenital anomalies

Communicating bronchopulmonary foregut malformations (BPFMs) are uncommon congenital lesions which usually present in infancy with respiratory distress, which is exacerbated during feeding. We present an unusual case of bilateral oesophageal BPFM in an infant with multiple congenital anomalies.     

Successful management of a completely duplicated lower urinary system

We present a young girl with an exceedingly rare case of a duplicated bladder, urethra, vulva, vagina, cervix, uterus, appendix, colon and anus, as well as a lipomyleomeningocele. This complex of anomalies has been referred to in the literature as caudal duplication syndrome. This particular case was complicated with urinary and fecal incontinence, vesicoureteral reflux, and recurrent rectovaginal fistulas. We report the successful surgical management of her condition with resulting urinary and fecal continence and resolution of reflux and fistulas.     

Bladder augmentation in a young adult female exstrophy patient with associated omphalocele: An extremely unusual case

We present the case of a 20-year-old woman with uncorrected bladder exstrophy and omphalocele treated with ileocystoplasty and continent urinary stoma. To our knowledge this is the first reported case of a young adult patient presenting with both congenital anomalies. The treatment result suggests that bladder preservation is a safe and feasible therapeutic option in bladder exstrophy.     

Ellis-van creveld syndrome associated with nodular sclerosing Hodgkin’s disease and nephrotic syndrome

An 11-year-old male child presented with multiple congenital anomalies, gradually increasing swelling on the left side of neck for one month along with generalized swelling of body and passage of scanty urine for fifteen days. On examination, the child had multiple congenital anomalies and cervical lymphadenopathy. Cardiac examination revealed a pansystolic murmur grade IIIJVI in left lower parasternal area. Laboratory evaluation revealed significant hypoalbuminemia and hypercholesterolemia, 24 hours urinary protein was 116 mgJhourJm². Histopathological examination of left cervical lymphnode revealed Hodgkin’s disease (Nodular Sclerosing type), 2D echocardiography revealed presence of a single atrium. A diagnosis of Ellis-van Creveld syndrome with nodular sclerosing Hodgkin’s disease and nephrotic syndrome was kept. This association, to the best of our knowledge has not been previously reported.     

Pseudohypoaldosteronism in infants with salt wasting syndrome. Two case reports

The paper discusses two cases of male infants, who developed a markedly elevated salt wasting syndrome in early infancy, resistant to treatment with mineralocorticoids. Steroid urinary profiles excluded congenital adrenal hyperplasia. However, both patients presented with extremely high excretion of aldosterone metabolite THAldo without effects of aldosterone action, what resulted in pseudohypoaldosteronism (PHA) diagnosis. The patients were treated with sodium supplementation, which normalized their clinical state and serum electrolytes. In the first patient the sporadic form of renal PHA1 is suspected. In the second patient congenital urinary tract anomalies and infection resulted in transient PHA1. Pseudohypoaldosteronism should be considered in the differential diagnosis of a salt wasting syndrome in infants, especially when it is accompanied by infections or congenital defects of the urinary tract.     

Neonatal Staphylococcus lugdunensis urinary tract infection

Staphylococcus lugdunensis is a known pathogen of infective endocarditis, but not of urinary tract infection. We report a previously healthy neonate without congenital anomalies of the kidney and urinary tract who developed urinary tract infection due to Staphylococcus lugdunensis, illustrating that Staphylococcus lugdunensis can cause urinary tract infection even in those with no urinary tract complications.     

Tracheoesophageal fistula and amastia with other anomalies: an unusual association

An unusual association of esophageal atresia (EA) and tracheoesophageal fistula (TEF) with left amastia and multiple congenital anomalies is presented because of its rarity and successful management. The other associated congenital anomalies included a high variety of anorectal malformation (high-ARM), hypospadias and absent left pectoral muscles with weak shoulder girdle. This case was successfully managed by multi-staged operations to tackle the various associated congenital anomalies. Such a rare association has not been reported previously in the literature.