Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome

American Journal of Medical Genetics. Part a
Oliver BartschThomas Haaf

Abstract

We report on a 4-year-old girl with severe developmental delay, absent speech, and chromosome 22q13.3 deletion (Phelan-McDermid syndrome), karyotype 46,XX.ish del(22)(q13.31qter)(ARSA-,N85A-,SHANK3-). At the age of 3 years, she needed an emergency liver transplantation because of fulminant hepatic failure, most likely caused by hyperacute autoimmune hepatitis triggered by a viral infection. This is the second report of a patient with 22q13.3 deletion and fulminant liver failure. By array-CGH we identified in this patient a 5.675 Mb terminal deletion (22q13.31 --> qter; including approximately 55 genes; from NUP50 to RABL2B) and in the previous patient a 1.535 Mb deletion (22q13.32 --> qter; including approximately 39 genes; from BRD1 to RABL2B). PIM3 is a prime candidate gene for the fulminant hepatic failure in the two patients; SHANK3/PROSAP2 could be another candidate gene. We recommend liver function tests and array-CGH in the management of patients with Phelan-McDermid syndrome. This patient showed a developmental catch-up following the liver transplantation, possibly suggesting that chronic hepatic disease could contribute to the developmental delay in a subset of these patients.

References

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Citations

Nov 16, 2012·Therapeutic Advances in Gastroenterology·Richard ParkerDavid H Adams
Jan 1, 2014·Journal of Neurodevelopmental Disorders·Alexander KolevzonJoseph D Buxbaum
Jan 28, 2020·Xenotransplantation·Adwin ThomasChristopher Burlak
May 13, 2011·Current Opinion in Organ Transplantation

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