Saudi Journal of Gastroenterology
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CASE REPORT
Year : 2017  |  Volume : 23  |  Issue : 3  |  Page : 206-208

Neuroblastoma amplified sequence gene mutation: A rare cause of recurrent liver failure in children


1 Department of Pediatric Gastroenterology, King Saud Bin Abdulaziz University for Health Sciences, National Guard Hospital, Jeddah, Saudi Arabia
2 Department of Genetics, King Saud Bin Abdulaziz University for Health Sciences, National Guard Hospital, Jeddah, Saudi Arabia
3 Department of Neonate, King Saud Bin Abdulaziz University for Health Sciences, National Guard Hospital, Jeddah, Saudi Arabia

Correspondence Address:
Mohammed Y Hasosah
Department of Pediatric Gastroenterology, King Saud Bin Abdulaziz University for Health Sciences, King Abdul-Aziz Medical City, King Abdullah International Medical Research Center (KAIMRC) National Guard Hospital, Jeddah - 21482
Saudi Arabia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1319-3767.207714

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Neuroblastoma amplified sequence (NBAS) gene mutation or infantile liver failure syndrome type 2 (ILFS type 2) is an extremely rare disease characterized by episodic liver failure precipitated by intercurrent febrile illness, and liver function recovering completely. Here, we report a 4-year-old girl with recurrent hepatitis. A diagnosis of ILFS type 2 was made based on NBAS mutation gene found by whole-exome sequencing. Our case provides a new insight toward considering NBAS mutation as a part of the differential diagnoses of any infant presenting with recurrent liver failure or hepatitis. We recommend sequencing NBAS in cases of recurrent hepatitis in infancy of unknown cause, especially in individuals with fever-associated hepatic dysfunction.


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