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

Alagille syndrome is a multisystem disorder classically involving the liver, heart, vertebrae, facial features, and the eyes. In this case report, we document a case of Alagille syndrome with an atypical clinical and histopathologic presentation and subsequent identification of a novel JAG1 missense mutation. This case highlights that there may be both atypical clinical and pathologic findings in mutation-proven Alagille syndrome and that the diagnosis of Alagille syndrome should be considered in cases of ongoing bile duct damage in the setting of early-onset jaundice, cholestasis, hepatosplenomegaly, posterior embryotoxon in the eyes, and butterfly vertebrae.

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Alagille syndrome and hepatocarcinoma: a case report

Acta Paediatrica ◽

10.1111/j.1651-2227.1992.tb12141.x ◽

1992 ◽

Vol 81 (11) ◽

pp. 937-937 ◽

Cited By ~ 10

Author(s):

Antonio Chiaretti ◽

Giuseppe Zampino ◽

Lorenzo Botto ◽

Giancarlo Polidori

Keyword(s):

Case Report ◽

Alagille Syndrome

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A pregnancy case report of alagille syndrome; expression of NOTCH signaling in the placenta

Placenta ◽

10.1016/j.placenta.2014.08.020 ◽

2014 ◽

Vol 35 (10) ◽

pp. A6

Author(s):

Kazue Togashi ◽

Megumi Sato ◽

Akira Sato ◽

Yurina Kameta ◽

Reiko Takayama ◽

...

Keyword(s):

Case Report ◽

Notch Signaling ◽

Alagille Syndrome

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Talon Cusps Presenting in a Child with Alagille's Syndrome –A Case Report

Journal of Clinical Pediatric Dentistry ◽

10.17796/jcpd.32.1.c041035j626wj573 ◽

2007 ◽

Vol 32 (1) ◽

pp. 61-63 ◽

Cited By ~ 4

Author(s):

Mahua Chatterjee ◽

Carol Mason

Keyword(s):

Case Report ◽

Early Diagnosis ◽

Alagille Syndrome ◽

Dental Anomaly ◽

Dental Examination ◽

Alagille’S Syndrome

Talon cusp is a rare dental anomaly often associated with systemic conditions such as Rubenstein-Taybi Syndrome,Ellis-van Crevald Syndrome and Incontentia pigmenti achromians. It has not been previously reported as occurring in Alagille Syndrome. Early diagnosis of talon cusps is crucial for the correct management and avoidance of complications. This case highlights the need for careful dental examination when treating children with syndromes, as new phenotypes that can have an effect on the dentition.

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Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey

In Vivo ◽

10.21873/invivo.12431 ◽

2021 ◽

Vol 35 (3) ◽

pp. 1711-1736

Author(s):

REINHARD E. FRIEDRICH ◽

JOZEF ZUSTIN ◽

ANDREAS M. LUEBKE ◽

THORSTEN ROSENBAUM ◽

MARTIN GOSAU ◽

...

Keyword(s):

Case Report ◽

Neurofibromatosis Type 1 ◽

Lower Extremities ◽

Neurofibromatosis Type ◽

Alagille Syndrome ◽

Literature Survey ◽

Bone Lesions

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Hepatic Adenoma Arising in a Patient With Alagille Syndrome: A Case Report

Pediatric and Developmental Pathology ◽

10.1177/1093526618762550 ◽

2018 ◽

Vol 21 (6) ◽

pp. 585-589 ◽

Cited By ~ 4

Author(s):

M Cristina Pacheco ◽

Eric J Monroe ◽

Simon P Horslen

Keyword(s):

Hepatocellular Carcinoma ◽

Case Report ◽

Vertebral Body ◽

Bile Ducts ◽

Alagille Syndrome ◽

Hepatic Adenoma ◽

Clinical Imaging ◽

Cardiac Abnormalities ◽

Regenerative Nodules

Alagille syndrome is associated with decreased bile ducts, cardiac abnormalities, vertebral body fusion defects, and a typical facies. While regenerative nodules and hepatocellular carcinoma have been described in these patients, hepatic adenoma has not. Herein, we present a patient with Alagille syndrome caused by a mutation in NOTCH2 with a hepatic adenoma. The clinical, imaging, and histologic features are discussed.

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