Progressive familial intrahepatic cholestasis type 2 and trisomy X in the same patient: a case report illustrating Hickam’s dictum
DOI:
https://doi.org/10.18203/2349-3291.ijcp20261918Keywords:
Progressive familial intrahepatic cholestasis type 2, ABCB11 gene, Triple X syndrome, Sex chromosome aberrations, Neonatal cholestasisAbstract
Progressive familial intrahepatic cholestasis type 2 (PFIC-2) is a rare autosomal recessive liver disorder caused by ABCB11 mutations, leading to severe cholestasis and liver failure. Triple X syndrome (47,XXX) is a sex chromosome aneuploidy with variable clinical features. An 80-day-old female presented with severe neonatal cholestasis and conjugated hyperbilirubinemia. Genetic testing confirmed biallelic ABCB11 variants consistent with PFIC-2 and a supernumerary X chromosome (47,XXX). Despite supportive therapy, she developed intractable ascites and died of septicemia. This case highlights the importance of genomic testing in neonatal cholestasis and the need for multidisciplinary care in complex dual genetic diagnoses.
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Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis. 2009;4:1. DOI: https://doi.org/10.1186/1750-1172-4-1
Van Wessel DBE, Thompson RJ, Gonzales E. Genotype–phenotype correlations in PFIC type 2: consequences for clinical management. J Hepatol. 2020;72(5):930-8.
McGinn DE, Crowley TB, Heung T, Oanh T, Edward M, Elaine HZ, et al. Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome. Genes (Basel). 2022;13(10):1800. DOI: https://doi.org/10.3390/genes13101800
Acién P, Acién M. Disorders of Sex Development: Classification, Review, and Impact on Fertility. J Clin Med. 2020;9(11):3555. DOI: https://doi.org/10.3390/jcm9113555
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L. A review of trisomy X (47,XXX). Orphanet J Rare Dis. 2010;5:8. DOI: https://doi.org/10.1186/1750-1172-5-8
Villanueva AL, Rebar RW. Triple-X syndrome and premature ovarian failure. Obstet Gynecol. 1983;62(3):70s-3s.
Otter M, Schrander-Stumpel CT, Curfs LM. Triple X syndrome: a review of the literature. Eur J Hum Genet. 2010;18(3):265-71. DOI: https://doi.org/10.1038/ejhg.2009.109
Wright CF, FitzPatrick DR, Firth HV. Paediatric genomics: diagnosing rare disease in children. Nat Rev Genet. 2018;19(5):253-68. DOI: https://doi.org/10.1038/nrg.2017.116
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