Nephrotic syndrome in a case of Rubinstein Taybi syndrome: a rare case report

Debasis Patro; Sunil Kumar Agarwalla; Nasreen Ali; Manaswinee Sahoo

doi:10.18203/2320-6012.ijrms20172492

Authors

Debasis Patro Department of Pediatrics, MKCG Medical College, Berhampur, Odisha, India
Sunil Kumar Agarwalla Department of Pediatrics, MKCG Medical College, Berhampur, Odisha, India
Nasreen Ali Department of Pediatrics, MKCG Medical College, Berhampur, Odisha, India
Manaswinee Sahoo Department of Pediatrics, MKCG Medical College, Berhampur, Odisha, India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20172492

Keywords:

CREBBP, Nephrotic syndrome, RSTS

Abstract

Rubinstein Taybi syndrome (RSTS) also known as Broad Thumb Hallux Syndrome characterized by distinct facial features with beaked or straight nose, short stature, moderate to severe intellectual disability, broad thumb and big toe. We report an interesting case of female child with history and examination suggestive of RSTS with Nephrotic syndrome. Investigation revealed presence of albumin in urine with hypercholesterolemia and hypoalbuminemia. Purpose of this case report is to highlight the distinctive presentation of this syndrome and to update the current state of knowledge.

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