Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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A patient with multiple arterial stenosis diagnosed with Alagille syndrome: A case report

  • Lee, Yoon Ha (Department of Pediatrics, Seoul National University Hospital) ;
  • Jeon, Yong Hyuk (Department of Pediatrics, Seoul National University Hospital) ;
  • Lim, Seon Hee (Department of Pediatrics, Uijeongbu Eulji Medical Center, Eulji University) ;
  • Ahn, Yo Han (Department of Pediatrics, Seoul National University Hospital) ;
  • Lee, Sang-Yun (Department of Pediatrics, Seoul National University Hospital) ;
  • Ko, Jung min (Department of Pediatrics, Seoul National University Hospital) ;
  • Ha, II-Soo (Department of Pediatrics, Seoul National University Hospital) ;
  • Kang, Hee Gyung (Department of Pediatrics, Seoul National University Hospital)
  • Received : 2021.09.06
  • Accepted : 2021.09.25
  • Published : 2021.12.31
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Abstract

Alagille syndrome (AGS) is a rare autosomal dominant inherited disorder, with major clinical manifestations of bile duct paucity, cholestasis, cardiovascular anomaly, ophthalmic abnormalities, butterfly vertebrae, and dysmorphic facial appearance. It is caused by heterozygous mutations in JAG1 or NOTCH of the Notch signaling pathway presenting with variable phenotypic penetrance and involving multiple organ systems. The following case report describes a unique case of a 16-year-old female with AGS who presented with the primary complaint of renovascular hypertension. She had a medical history of ventricular septal defect and polycystic ovary syndrome. The patient had a dysmorphic facial appearance including frontal bossing, bulbous tip of the nose, a pointed chin with prognathism, and deeply set eyes with mild hypertelorism. Stenoocclusive changes of both renal arteries, celiac artery, lower part of the abdominal aorta, and left intracranial artery, along with absence of the left internal carotid artery were found on examination. Whole exome sequencing was performed and revealed a pathologic mutation of JAG1, leading to the diagnosis of AGS. Reverse phenotyping detected butterfly vertebrae and normal structure and function of the liver and gallbladder. While the representative symptom of AGS in most scenarios is a hepatic problem, in this case, the presenting clinical features were the vascular anomalies. Clinical manifestations of AGS are diverse, and this case demonstrates that renovascular hypertension might be in some cases a presenting symptom of AGS.

Keywords

Acknowledgement

This work was supported by the National Research Foundation of Korea (NRF) grant funded by the Korea government (MSIT) (No. NRF-2020R1A2C1100974). We are also grateful to the patient and her parents for providing consent for this study.

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