Macular atrophy in <i>JAG1-</i>related Alagille syndrome: a case series

Paez-Escamilla, Manuel; Scanga, Hannah L.; Liasis, Alki; Nischal, Ken K.

doi:10.1080/13816810.2021.2004432

Cited by 4 publications

(1 citation statement)

References 15 publications

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“…Similarly, Paez-Escamilla et al . 12 , in the United States, followed a series of cases with this syndrome associated with the JAG1 gene alteration for 8 years, analyzing ophthalmologic changes over time, showing a marked retinal and macular dysfunction through electrophysiological studies 12 . Nakajima et al .…”

Section: Discussionmentioning

confidence: 99%

Alagille syndrome: an orphan disease in Colombia and summary of recent advances in treatment and survival – a case report

Echeverri-Mejía

Ríos-Orozco

Lozada-Martínez

et al. 2023

Annals of Medicine &Amp; Surgery

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Introduction: Alagille syndrome has been described as a multisystemic clinical spectrum caused by an autosomal dominant genetic disorder. Although it is estimated that there is 1 case per 100 000 live births, the prognosis for survival and quality of life for these patients is varied but tends to be negative. In Colombia, this condition is considered an orphan disease with difficult management due to the lack of specialized centers that have all the medical specialties and subspecialties. Some reports state that no more than 30 cases have been published in this country. Materials and methods: The authors report a case of a male baby who, at 8 days old, he was taken to the general practitioner’s outpatient clinic for persistent jaundice. At 3 months of age, he was reviewed by the pediatric gastroenterology department, which requested liver and biliary tract scintigraphy, showing atresia of the biliary tract, hepatomegaly, and the absence of a gallbladder. Results: Liver transplantation is the definitive solution. However, in low- and middle-income countries, where there are no well-established organ transplantation programs, the prognosis for these patients is presumed to be worse. Conclusion: Alagille syndrome is a rare disease that requires an accurate and early diagnosis and timely multidisciplinary management to reduce the impact of multisystemic complications. It is necessary to advance in transplant programs in low- and middle-income countries, to provide a solution to cases where there are no other therapeutic alternatives, and to contribute to the quality of life of the affected patient.

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Section: Discussionmentioning

confidence: 99%