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Abstract: TH-PO161

Wiedemann-Steiner Syndrome Presenting as Bladder Outlet Obstruction

Session Information

Category: Trainee Case Report

  • 1700 Pediatric Nephrology


  • Zitnik, Edward M., Baystate Medical Center, Springfield, Massachusetts, United States
  • Abbott, Mary-Alice, Baystate Medical Center, Springfield, Massachusetts, United States

Wiedemann-Steiner syndrome is a rare autosomal dominant disorder associated with pathogenic variants in the KMT2A (Lysine Methyltransferase 2A) gene, which encodes a histone methyltransferase thought to regulate transcription via methylation of histone H3KA. This gene has targets in many human tissues, including multiple HOX and WNT genes. The disorder classically presents as prenatal and postnatal growth restriction with atypical facial features. While renal involvement has been seen in some cases, this has never been described as a presenting feature, as in this case.

Case Description

This late-preterm SGA newborn boy presented with anuria for the first 2 days of life and a distended bladder. There was a prenatal diagnosis of hydronephrosis later described as bilateral grade IV hydronephrosis with hydroureter on US and isolated left grade V reflux on VCUG, not due to PUV or ureterocele. SCr on DOL 2 was 1.9 with improvement to 1.2 after a suprapubic tube was placed for urine output. He was evaluated by genetics in the early newborn stage who appreciated hypertrichosis, upslanted palpebral fissures, and clinodactyly. After recurrent UTIs, a voiding cystourethrogram was performed and showed a severely distorted left upper tract collecting system. A skeletal survey showed no signs of skeletal dysplasia and a chromosome microarray was normal. Endocrine evaluation for his short stature (height and weight below the 3rd percentile) revealed no obvious hormone-mediated disease process. Whole Exome Sequencing (WES) identified a de novo autosomal dominant pathogenic variant in the KMT2A gene (p.R1151*, c. 3451 C>T), consistent with the diagnosis of Wiedemann-Steiner syndrome. He went on to develop stage III chronic kidney disease within his first year of life, and is expected to require kidney transplant by the age of 5 after vesicostomy closure and self-catheterization for renal protection.


This case illustrates an atypical presentation of a rare genetic disorder and adds to the phenotype of Wiedemann-Steiner syndrome.