Bladder agenesis, ectopic ureters and a multicystic dysplastic horseshoe kidney in one twin newborn with normal amniotic fluid index in utero

Abstract

A monochorionic-diamniotic twin baby presented with intrauterine growth restriction and anuria. The baby was found to have bladder agenesis, a pelvic dysplastic horseshoe kidney, vertebral anomalies, a ventricular septal defect and facial dysmorphisms. It was surprising to find no abnormalities in amniotic fluid indices prenatally, suggesting the possibility of urine output that declined as the pregnancy proceeded. Some degree of twin-to-twin transfusion of amniotic fluid was also possible, which could have rescued the oligohydramnios known to be associated with kidney and urinary tract abnormalities. It was also notable that there was no abnormality in respiratory function, especially since further investigations revealed close to no kidney function. The intrauterine growth restriction (IUGR) along with the multiple anomalies found made the baby unsuitable for dialysis and transplant, and the decision of transition to palliative care was made.

Bladder Agenesis: A Systematic Review

“…Only seven subjects had a twin, five of whom were monozygotic [ 14 , 15 , 21 , 34 , 39 ], and one via in vitro fertilization [ 32 ]. One has hypospadias [ 21 ], one, similarly to their twin, has teratology of Fallot [ 14 ], and five were without complaint [ 15 , 29 , 32 , 37 , 45 ].…”

“…Subjects could be divided into two groups depending on the timing of the presentation: (1) early presentation as neonates due to one or more of the following: azotemia or oligohydramnios and its complications [ 6 , 9 , 16 , 19 , 22 , 24 - 26 , 28 , 29 , 31 , 39 , 45 - 47 , 54 - 56 ] or ambiguous genitalia [ 6 , 8 , 9 , 14 , 17 , 20 , 21 , 25 , 28 , 29 , 36 , 38 , 39 , 41 , 49 , 51 , 54 ] and occasionally part of a complex syndrome; in those cases, absent bladder was an incidental finding, or less commonly, subjects who were noted to have imperforated anus or inability to pass stool [ 9 , 20 , 28 , 36 , 48 , 51 ]. The prenatal presentation was due to oligohydramnios, and the definitive diagnosis was after birth.…”

“…It is worth mentioning that they were all mentioned in newborns, and only one case described the PDA as large. Other cardiac anomalies were ventricular septal defect (VSD) [ 2 , 15 , 20 , 31 , 45 ], atrial septal defect (ASD) [ 29 , 42 ], one of them with atrioventricular canal and tricuspid stenosis [ 29 ], teratology of Fallot [ 14 , 51 ], pulmonary stenosis [ 51 ], aortic coarctation [ 50 ], tricuspid insufficiency [ 31 ], and in one case, it was unspecified [ 6 ]. With a total of 18 cases and a percentage close to 28% of all reported cases.…”

“…Bladder agenesis is associated with a wide array of vertebral deformities and some limb deformities. Reported vertebral, sacral, and rib malformations include, but are not limited to, butterfly vertebrae [ 44 ], block vertebrae [ 20 , 44 ], or hemivertebrae [ 45 ], asymmetric vertebral bodies, six lumbar vertebrae [ 25 ], additional rib [ 14 , 15 , 20 , 22 ], vertebral hemispondylosis [ 23 ], scoliosis [ 1 , 3 , 8 , 15 , 34 ], hemihypertrophy [ 15 ], and sacral hypoplasia or dysplasia [ 23 , 25 , 53 ], spinal bifida [ 1 , 15 , 16 ], sacral dimple [ 14 ], fused ischial bones [ 25 ], and sacral agenesis [ 56 ].…”

Renal Ektopi ve Füzyon Anomalilerinin Sintigrafik Değerlendirilmesi ve Hilson Perfüzyon İndeksi

“…The first horseshoe kidney was documented by Da Carpi, in 1522 (9). Etiology of horseshoe kidneys include abnormal migration of nephrogenic cells across the primitive streak, maternal factors such as teratogenic drug exposure during pregnancy (thalidomide), alcohol consumption, and poor glycemic control, or struc-tural factors (flexion/rotation of the caudal spine and narrowed fork of umbilical arteries during migration) (10,11).…”