Beyond the Port-Wine Stain: Unveiling Hypothyroidism in a Child with Type II Sturge-Weber Syndrome: A Case Report from Iraq

Wasnaa Hadi Abdullah; Abdulameer Jasim Jawad al-Gburi

doi:10.54133/ajms.v8i2.2006

Authors

Wasnaa Hadi Abdullah Department of Pediatrics, College of Medicine, Mustansiriyah University, Baghdad, Iraq https://orcid.org/0000-0003-1549-3824
Abdulameer Jasim Jawad al-Gburi Department of Medicine, College of Medicine, Mustansiriyah University, Baghdad, Iraq

DOI:

https://doi.org/10.54133/ajms.v8i2.2006

Keywords:

Central hypothyroidism, Endocrine, Port-wine stain, Sturge-Weber Syndrome

Abstract

Facial port-wine stain, leptomeningeal capillary abnormalities, and ocular vascular anomalies are prominent features of the rare neurocutaneous disorder known as Sturge-Weber Syndrome (SWS). While the syndrome is primarily characterized by its dermatologic, ophthalmologic, and neurological features, multi-systemic involvement, including endocrinologic dysfunction, has also been reported. In this case report, we describe a 12-year-and-9-month-old boy diagnosed with SWS who was also found to have central hypothyroidism.

Downloads

Download data is not yet available.

References

Karn M, Barma A, Ojha L, Bhatta S, Neupane P, Dhital K, et al. Sturge-Weber syndrome: A case report. Clin Case Rep. 2024;12(10):e9452. doi: 10.1002/ccr3.9452. DOI: https://doi.org/10.1002/ccr3.9452

Shah AD, Alexieff P, Tatachar P. Sturge-Weber syndrome: A narrative review of clinical presentation and updates on management. J Clin Med. 2025;14(7). doi: 10.3390/jcm14072182. DOI: https://doi.org/10.3390/jcm14072182

Dingenen E, Segers D, Maeseneer H de, van Gysel D. Sturge-Weber syndrome: an update for the pediatrician. World J Pediatr. 2024;20(5):435–443. doi: 10.1007/s12519-024-00809-y. DOI: https://doi.org/10.1007/s12519-024-00809-y

Roach ES. Neurocutaneous syndromes. Pediatr Clin North Am. 1992;39(4):591–620. doi: 10.1016/S0031-3955(16)38367-5. DOI: https://doi.org/10.1016/S0031-3955(16)38367-5

Mukhopadhyay S. Sturge-Weber syndrome: A case report. J Indian Soc Pedodontics Prevent Dent. 2008;26(5). DOI: https://doi.org/10.4103/0970-4388.41752

Ramirez EL, Jülich K. Sturge-Weber syndrome: an overview of history, genetics, clinical manifestations, and management. Semin Pediatr Neurol. 2024;51:101151. doi: 10.1016/j.spen.2024.101151. DOI: https://doi.org/10.1016/j.spen.2024.101151

Liu L, Li X, Zhao Q, Yang L, Jiang X. Pathogenesis of Port-Wine stains: Directions for future therapies. Int J Mol Sci. 2022;23(20). doi: 10.3390/ijms232012139 DOI: https://doi.org/10.3390/ijms232012139

Smegal LF, Sebold AJ, Hammill AM, Juhász C, Lo WD, Miles DK, et al. Multicenter research data of epilepsy management in patients with Sturge-Weber syndrome. Pediatr Neurol. 2021;119:3–10. doi: 10.1016/j.pediatrneurol.2021.02.006. DOI: https://doi.org/10.1016/j.pediatrneurol.2021.02.006

Miller RS, Ball KL, Comi AM, Germain-Lee EL. Growth hormone deficiency in Sturge-Weber syndrome. Arch Dis Child. 2006;91(4):340–341. doi: 10.1136/adc.2005.082578. DOI: https://doi.org/10.1136/adc.2005.082578

Comi AM, Bellamkonda S, Ferenc LM, Cohen BA, Germain-Lee EL. Central hypothyroidism and Sturge-Weber syndrome. Pediatr Neurol. 2008;39(1):58–62. doi: 10.1016/j.pediatrneurol.2008.03.018. DOI: https://doi.org/10.1016/j.pediatrneurol.2008.03.018

Alabedi RF, Alsaffar H, Ibrahim BA, Abdullah WH. An endocrine perspective of juvenile moyamoya syndrome/disease: A literature review. Med J Babylon. 2023;20(1):13–17. doi: 10.4103/MJBL.MJBL_247_22. DOI: https://doi.org/10.4103/MJBL.MJBL_247_22

Al-Gburi AJ, Al-Obaidi SR, Abdullah WH. Short-term outcomes among patients with subclinical hypothyroidism undergoing primary percutaneous coronary intervention. Ghana Med J. 2023;57(1):37–42. doi: 10.4314/gmj.v57i1.6. DOI: https://doi.org/10.4314/gmj.v57i1.6

Alsaffar H, Abdullah WH, Hussein SA. Hypothyroidism in paediatric patients with Prader-Willi syndrome: Regular monitoring is recommended. Med J Babylon. 2022;19(2):123–125. doi: 10.4103/MJBL.MJBL_43_22. DOI: https://doi.org/10.4103/MJBL.MJBL_43_22

Saroj G, Gangwar A, Dhillon JK. Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus. Int J Clin Pediatr Dent 2016; 9(1):82–5. doi: 10.5005/jp-journals-10005-1339 DOI: https://doi.org/10.5005/jp-journals-10005-1339

Sert A, Süslü H. The association between the morphology of the aortic valve and the dysfunction of the aortic valve in pediatric patients with a diagnosis of bicuspid aortic valve. J Contemp Med. 2023;13(6):1095–1102. doi: 10.16899/jcm.1372286.

Al-Gburi AJJ. Iatrogenic aortic dissection. Med J Babylon. 2022;19(2):129–132. doi: 10.4103/MJBL.MJBL_60_22. DOI: https://doi.org/10.4103/MJBL.MJBL_60_22