Percutaneous dual intervention in a child with Alagille syndrome – A case report.
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Abstract
Alagille syndrome (ALGS) is a rare autosomal dominant (AD) genetic disorder. It is a multisystemic disease which involves liver, heart, skeleton, eyes, kidneys and skeletal abnormalities. The disease may involve a particular system like facial dysmorphism, cardiac or musculoskeletal system. Some individual may not have hepatic involvement. Here we report unusual case of 9-year-old boy with large ostium secundum atrial septal defect (16 mm) and branch pulmonary artery stenosis (Left). The boy had facial dysmorphism (broad forehead, frontal bossing, triangular facies, hypertelorism, prominent ear and pointed chin, straight nose with bulbous tip). His psychological assessment revealed borderline IQ. He also had butterfly vertebrae in thoracic and lumber region which was found incidentally. He underwent device closure for atrial septal defect and balloon pulmonary valvuloplasty for left pulmonary artery stenosis. Both the procedure was performed simultaneously without complications. As there is no curative management for the disorder so symptomatic management is the only treatment option. We suggest screening of suspected individual, so that early intervention can safe patient from devastating complications of involved organ system.
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References
2. Saleh M, Kamath BM, Chitayat D. Alagille syndrome: clinical perspectives. The Application of Clinical Genetics. 2016 ;30:75-82.
3. Kim J, Yang B, Paik N, Choe YH, Paik YH. A case of Alagille syndrome presenting with chronic cholestasis in an adult. Clinical and Molecular Hepatology. 2017 Sep;23(3):260.
4. Sanderson E, Newman V, Haigh SF, Baker A, Sidhu PS. Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients. Pediatric radiology. 2002 Feb; 32:114-9.
5. Ayoub MD, Kamath BM. Alagille Syndrome. Diagnostic Challenges and Advances in Management. Diagnostics (Basel). 2020 Nov 6;10(11):907.
6. Li J, Wu H, Chen S, Pang J, Wang H, Li X, Gan W. Clinical and Genetic Characteristics of Alagille Syndrome in Adults. J Clin Transl Hepatol. 2023 Feb 28;11(1):156-162
7. Amimoto S, Ishii M, Tanaka K, Araki S, Kuwamura M, Suga S, Kondo E, Shibata E, Kusuhara K, Yoshino K. Alagille-like syndrome with surprising karyotype: a case report. J Med Case Rep. 2023 Apr 26;17(1):186.
8. Tretter JT, McElhinney DB. Cardiac, aortic, and pulmonary vascular involvement in Alagille syndrome. Alagille syndrome: pathogenesis and clinical management. 2018:77-90.
9. Yuan SM. Pulmonary artery pathologies in Alagille syndrome: a meta-analysis. Advances in Interventional Cardiology/Postępy w Kardiologii Interwencyjnej. 2022 Jun 1;18(2):111-7.
10. Harada T, Fukae K, Matsuo O, AndoY. Peripheral Pulmonary Artery Growth in Alagille Syndrome after Central Pulmonary Artery Enlargement: A CaseReport. Ann Clin Case Rep. 2024; 9:2555.
11. Spinner NB, Gilbert MA, Loomes KM, Krantz ID. Alagille Syndrome Synonyms: Arteriohepatic Dysplasia, Syndromic Bile Duct Paucity. Gene;1:2.
12. Andrew GM, Brian T, Fowler MD, Stephen C, Dryden MD, Grace S et al.Alagille syndrome. american academy of ophthalmology. 2023 Jan 26
13. .Martin E, Mainwaring RD, Collins RT 2nd, MacMillen KL, Hanley FL. Surgical Repair of Peripheral Pulmonary Artery Stenosis in Patients Without Williams or Alagille Syndromes. Semin Thorac Cardiovasc Surg. 2020 Winter;32(4):973-979
14. BaykanA, Argun M, Özyurt A, Pamukçu O, Sezer S, Üzüm K, Nari N. Cutting balloon angioplasty and stent implantation for left pulmonary artery stenosis in a case with Alagille syndrome. Turk Gogus Kalp Dama 2014; 22:642-644
15. Herceg S, Dilber D, Šarić D, et al192 Alagille syndrome in infant with fallot tetralogy. Archives of Disease in Childhood 2021;106:A81-A82
16. Semenova N, Kamenets E, Annenkova E, Marakhonov A, Gusarova E, Demina N, Guseva D, Anisimova I, Degtyareva A, Taran N, Strokova T, Zakharova E. Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease. Int J Mol Sci. 2023 Jul 21;24(14):11758
17. Katsuura Y, Kim HJ. Butterfly Vertebrae: A Systematic Review of the Literature and Analysis. Global Spine J. 2019 Sep;9(6):666-679.
18. Huang H, Wang LF. Radiological changes of spine and liver in a case of Alagille syndrome. Quant Imaging Med Surg 2018;8(3):368-371.
19. Rao A, Gaikwad S, Taksande A, Wanjari MB. An Incidental Finding of Butterfly Vertebrae in a Case of Vertebral Defects, Anal Atresia, Cardiac Defects, Tracheo-Esophageal Fistula, Renal Anomalies, and Limb Abnormalities (VACTERL). Cureus. 2023 Jan 5;15(1):e3340
20. Joshi A, shah I.Jaundice with triangular facies and pulmonary stenosis.paediatric on call journal 2018;15:87-88.
21. Yoon HL, Youg JH, Seon HL, Sang YL,Jung MK,Il-soo HA, Hee GK. A patient with multiple arterial stenosis diagnosed with Alagille syndrome: A case report. Journal of Genetic Medicine 2021;142-146
22. Akagi K, Tanaka T, Baba S. Successful living donor liver transplantation after stent implantation in a patient with Alagille syndrome and severe bilateral pulmonary artery stenosis. Cardiology in the Young. 2018 Dec;28(12):1465-7.
23. Rodriguez RM, Feinstein JA, Chan FP. CT-defined phenotype of pulmonary artery stenoses in Alagille syndrome. Pediatric radiology. 2016 Jul;46:1120-7.
24. Luong R, Feinstein JA, Ma M, Ebel NH, Wise-Faberowski L, Zhang Y, Peng LF, Yarlagadda VV, Shek J, Hanley FL, McElhinney DB. Outcomes in patients with Alagille syndrome and complex pulmonary artery disease. The Journal of Pediatrics. 2021 Feb 1;229:86-94.