Alejandro ROJAS-URREA, Daniela ARIAS-MARIÑO, Fernanda E. LANDINES-PEÑA, Brumel Armando NIÑO-PATARROYO, Lorena GARCÍA-AGUDELO
Gynecology Obstetrics & Reproductive Medicine - 2025;31(3):221-225
Alagille syndrome is a genetic disorder with an autosomal dominant hereditary pattern. Clinical manifestations include craniofacial, ocular, cardiac, hepatic, renal, vascular, and skeletal abnormalities with varying phenotypic penetrance; therefore, treatment would be targeted to the affected organs. A successful pregnancy in this pathology is uncommon and depends on the maternal features, particularly those that involve the cardiovascular and hepatobiliary systems. The objective of the manuscript is to present the case of a 24-year-old pregnant woman with a diagnosis of Alagille syndrome, her therapeutic challenge, and associated conditions. Considering the involvement of fundamental components of the Notch signalling pathway, allowing a broad range of clinical manifestations, including craniofacial, ocular, cardiac, hep-atic, renal, vascular, and skeletal abnormalities, with varying phenotypic penetrance. Normally, it is necessary to have three out of seven major clinical abnormalities to make a clinical di-agnosis, which include cardiac defects, hepatic abnormalities, renal manifestations, skeletal defects, ophthalmologic abnor-malities, dysmorphic facies, and vasculature manifestations (1-3). Management depends on the clinical findings. There are no specific strategies for managing ALGS. For example, liver disease, one of the most common manifestations, has guide-lines in the neonatal population that include nutritional sup-plementation because it plays a crucial role in improving the prognosis and treating the associated malnutrition, as well as pharmacological treatment for cholestasis; however, in adults, in the absence of specific guidelines, the management is guided in the same way as in infants, and in cases of advanced liver disease, liver transplantation (LT) is an alternative (4,5). In addition, other clinical defects must undergo a specific treatment. The availability of surgical procedures for intra-ab-dominal vasculopathy, the corrective procedures in cases of structural renal anomalies, and corrective cardiac surgery for cardiac manifestations can be excellent examples of standard management considering the clinical spectrum and related conditions (4,6). The objective of the manuscript is to present the case of a 24-year-old pregnant woman with ALGS, considering the challenge this poses for obstetrician-gynaecolo-gists, given that it can mimic several pathologies of interest in pregnancy, and expertise in this area is limited, due to the few cases of pregnancy in patients with ALGS who reach adult-hood, and its treatment according to the affected organs.
