J Genet Med.  2014 Dec;11(2):74-78. 10.5734/JGM.2014.11.2.74.

A case of Sotos syndrome presented with end-stage renal disease due to the posterior urethral valve

  • 1Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. jmko@snu.ac.kr
  • 2Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.
  • 3Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.


Sotos syndrome (SS, OMIM 117550) is characterized by prenatal and postnatal overgrowth with multiple congenital anomalies. However, there have been few cases of growth retardation caused by renal failure from infancy. We report a case of dysplasia of the bilateral kidneys with renal failure and poor postnatal growth. A 2-month-old boy visited the emergency room owing to poor oral intake and abdominal distension. He was born at the gestational age of 38 weeks with a birth weight of 4,180 g. After birth, he had feeding difficulty and abdominal distension. Upon physical examination, his height and weight were in less than the 3rd percentile, while his head circumference was in the 50th percentile on the growth curve. He also showed a broad and protruding forehead and high hairline. Blood laboratory tests showed severe azotemia; emergent hemodialysis was needed. Abdominal ultrasonography revealed bilateral renal dysplasia with multiple cysts and diffuse bladder wall thickening. A posterior urethral valve was suggested based on vesicoureterography and abdominal magnetic resonance findings. Results of a colon study to rule out congenital megacolon did not reveal any specific findings. The conventional karyotype of the patient was 46, XY. Array comparative genomic hybridization study revealed a chromosome 5q35 microdeletion including the NSD1 gene, based on which SS was diagnosed. We describe a case of SS presenting with end stage renal disease due to posterior urethral valve. The typical somatic overgrowth of SS in the postnatal period was not observed due to chronic renal failure that started in the neonatal period.


NSD1; Overgrowth; Sotos syndrome; Posterior urethral valve; Chronic kidney failure
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