Percutaneous dual intervention in a child with Alagille syndrome –A case report.

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Tahmina Karim

Abstract

Alagille syndrome(ALGS) is a rare autosomal dominant (AD) genetic disorder .ALGS involves multisystem which includes liver ,heart, skeleton, Eyes, kidneys with facial abnormalities. ALGS may involve a particular system like facial dysmorphism, cardiac defect or vertebral defect. Some individual may not have liver anomalies or typical features. We report a case of 9 year old male child with large ostium secundum ASD(16 mm) and branch pulmonary artery stenosis(LPA)diagnosed incidentally at 8 year of age. The child had facial dysmorphism (broad forehead, frontal bossing , triangular facies, hypertelorism, prominent ear and pointed chin, straight nose with bulbous tip. The mental development of the child was borderline. He also had butterfly vertebrae in thoracic and lumber region. He was treated successfully with ASD device closure for ASD and balloon pulmonary valvuloplasty for LPA stensis. Both the procedure was performed simultaneously without any complications. There is no curative management for the disorder so symptomatic management is the only treatment option.

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How to Cite
KARIM, Tahmina. Percutaneous dual intervention in a child with Alagille syndrome –A case report.. Medical Research Archives, [S.l.], v. 12, n. 3, mar. 2024. ISSN 2375-1924. Available at: <https://esmed.org/MRA/mra/article/view/5098>. Date accessed: 13 apr. 2024. doi: https://doi.org/10.18103/mra.v12i3.5098.
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Research Articles