Case Report of patient AC Submitted by:Windsen Pan, MS4 Faculty reviewer:Sandra Oldham, MD Date accepted:23 August 2010 Radiological Category:Principal Modality (1): Principal Modality (2): Pediatrics Ultrasound General Radiography

Case History MC is 2 day old female born prematurely at 35 6/7 weeks at an OSH where she presented with multiple congenital abnormalities, feeding intolerance and elevated creatinine. The mother had received prenatal care. Prenatal ultrasound revealed oligohydramnios. Pt was delivered via SVD, APGARs were 8 and 9. Imperforate anus, sacral dimple and syndactyly were noted on initial exam.

Radiological Presentations

Autosomal Recessive Polycystic Kidney Disease Amniotic Band Syndrome VACTERL Association CHARGE Syndrome Potter’s Syndrome Which one of the following is your choice for the appropriate diagnosis? Test Your Diagnosis

Chest/Abdominal Pediogram A Replogle catheter lies in the proximal esophagus, most likely in the proximal pouch of an atretic esophagus. Multiple loops of gas distended, dilated bowel are seen throughout the abdomen. An umbillical vein catheter remains in the region of the ductus stenosis. Skeletal Survey A butterfly vertebrae is noted at the lumbosacral junction. The sacrum is dysplastic. Four metacarpals are noted bilaterally. The first (radial-most) digit of the each hand is dysplastic and demonstrates fusion of 3 digits on the left. The radial-most digit of the right hand may be a fusion of 2 digits. Spine Ultrasound The tip of the conus medullaris is abnormally low in position, at L5 level. The filum terminale appears thickened and tends towards the sacral thecal sac. The sacrum appears dysplastic. A hypoechoic bulge is noted in the subcutaneous tissues over the sacrum, which is suggestive of a communication to the thecal sat at S4-S5 level. Abdominal Ultrasound Normal renal parenchyma is not visualized in either renal bed. The right kidney demonstrates large cystic areas that do not appear to communicate. The left kidney also demonstrates large cystic areas that do not appear to be arranged in a collecting system pattern. Findings: Findings

Autosomal Recessive Polycystic Kidney Disease Amniotic Band Syndrome VACTERL Association CHARGE Syndrome Potter’s Syndrome Differentials: Differentials Diagnosis: VACTERL Association

Non-random constellation of congenital defects, including at least 3 of the following anomalies: Vertebral – hemivertebrae, butterfly vertebrae, fused/extra segments, Atresias – anal, duodenal atresias Cardiac – atrial septal/ventricular septal defects, Tetralogy of Fallot, aortic coarctation Tracho-Esophogeal – esophageal atresia, tracho-esophageal fistulas Renal – horseshoe kidney, dysplastic kidney, uretopelvic obstruction Limb – absent/deformed radii, poly/oligodactyly Discussion

VACTERL Association First described in Identified as VATER association. In a 2010 international study looking at 10 million infants, 1 in 35,000 had VATER association (did not include cardiac anomalies) 1. VACTERL association has been reported with an estimated prevalence of 1 in 6,250 newborns 2. Association of anomalies suggest derangement of mesoderm development No single genetic etiology identified. HOXD13, FOXF1, and SHH are possible involved genes 1. Non-mendelian inheritance pattern Most likely a multi-factorial etiology. There have been reported associations with Trisomy 18 and babies of diabetic mothers 2. Discussion

Esophageal Atresia/Tracheo-Esophageal Fistula 1 in 3,000 live births 3. Seen in about 52% of VACTERL cases 1. Most common type is EA + distal TEF (A) Patients present with excessive drooling and inability to feed due to EA. TEF leads to excessive intake of air into the GI tract, resulting in dilation of stomach and small intestine as well as respiratory distress from restriction of the diaphragm. Aspiration is common. Radiographic evidence Prenatal US often reveals polyhydramnios. Neonatal chest radiographs shows coiled NG tube in proximal pouch of esophagus. Stomach and small intestine may be distended with air, depending on type/presence of TEF. Contrast studies are generally not indicated due to aspiration risk. Discussion

Multicystic Dysplastic Kidney Seen in about 50% of VACTERL patients 1. Occurs in 1 in 2,400 live births. Most common renal cystic disease in the US 4. Renal cortex replaced by numerous cysts of varying sizes. No functional renal tissue identified. Only 20% have an identifiable reniform shape. Bilateral disease is incompatible with life – 25% of cases. Ultrasound is imaging study of choice. Helpful to differentiate between hydronephrosis and polycystic kidney disease. Discussion

Tethered Spinal Cord Subcategory of spinal dysraphisms (meningocele, myelomeningocele, spina bifida occulta). Developmental anomaly where the distal spinal cord is bound low in the bony spinal canal. This is often caused by a thickened filum terminale, fibrous banding, lipoma of the filum terminale or dermal sinus. As the bony canal grows more rapidly than the neural tissue, tension is exerted on the spinal cord, tethering it down. The conus medullaris is typically found below the level of L2-L3. Associated with cutaneous markers such as nevi, dimples, hair tufts or hemangiomas. Neurological deficits (bowel/bladder dysfunction, leg/back pain, motor/sensory disturbances) result depending on location of tethering and tend to worsen as the canal grows. Not classically described as part of VACTERL but a recent retrospective study of VACTERL patients over 14 years showed 39% of VACTERL patients with tethered cords 5. Discussion

1. Solomon BD, et al. Analysis of component findings in 79 patients diagnosed with VACTERL association. Am J Med Genet A Aug Cinncinnati Children’s Heart Institute. VACTERL or VATER association Sept. 3. Kronemer KA, et al. Esophageal Atresia/Tracheoesophageal Fistula. eMedicine Jun Wiener JS, et al. Multicystic Dysplastic Kidney. eMedicine Feb O'Neill BR, Yu AK, Tyler-Kabara EC, Prevalence of tethered spinal cord in infants with VACTERL. J Neurosurg Pediatr Aug;6(2): References