A rare Cause of Pancreatic Insufficiency; Johanson Blizzard Syndrome. | [Journal of Pakistan Medical Association • 2018]

Author(s):

1. Zeynep Civelek: Department of Pediatrics, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey

2. Nafiye Urganci: Department of Pediatric Gastroenterology, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey

3. Merve Usta: Department of Pediatric Gastroenterology, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey

4. Muhittin Celik: Department of Neonatology, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey

Abstract:

Johanson-Blizzard Syndrome (JBS) was first described by Johanson and Blizzard. It exhibits autosomal recessive inheritance and is characterized by mutation in the UBR1 gene on the long arm of Chromosome 15. The phenotypic features as well as diarrhoea that occurs due to the exocrine pancreatic insufficiency constitute the main clinical symptoms. This article discusses JohansonBlizzard Syndrome due to the case followed-up by us with the symptoms of deafness and diarrhoea as well as typical facial appearance.

Page(s): 801-803

DOI: DOI not available

Published: Journal: Journal of Pakistan Medical Association, Volume: 68, Issue: 5, Year: 2018

Keywords:

Child , Pancreatic insufficiency

References:

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