A patient with multiple arterial stenosis diagnosed with Alagille syndrome: A case report

• 발행기관: 대한의학유전학회
• 저자명: Yoon Ha Lee Yong Hyuk Jeon Seon Hee Lim Yo Han Ahn Sang-Yun Lee Jung min Ko II-Soo Ha Hee Gyung Kang
• 간행물 정보: 『대한의학유전학회지』제18권 제2호, 142~146쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2021.12.31

영문 초록

Alagille syndrome (AGS) is a rare autosomal dominant inherited disorder, with major clinical manifestations of bile duct pau-city, 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, bul-bous 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.

목차

Introduction

Case

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Acknowledgements

Authors’ Contributions

References

키워드

Alagille syndrome Hypertension JAG1 Vascular diseases