Demographic Characteristics, Clinical Features, and Surgical History in Children with Mucopolysaccharidoses: A Single Center Experience

Öz

Background: Mucopolysaccharidoses (MPS) are a heterogeneous group of lysosomal storage disorders characterized by progressive glycosaminoglycan accumulation and multisystem involvement. Owing to their broad clinical spectrum, patients require lifelong multidisciplinary follow-up. This study aimed to characterize the demographic profile, clinical manifestations, and surgical history of pediatric patients with mucopolysaccharidoses followed at a tertiary referral center. Methods: This retrospective descriptive study included 10 patients with confirmed MPS. Demographic characteristics, MPS subtype, enzyme replacement therapy (ERT) status, hearing and ophthalmological findings, cardiac involvement, and surgical history were retrospectively reviewed from medical records. Results: Ten patients (6 males, 4 females) were included. The cohort comprised three patients with MPS VI, two with MPS II, and one patient each with MPS I, IVA, IIIB, IIIC, and IIID. Seven patients (70%) were receiving ERT. Cardiac involvement was identified in four patients (40%), whereas hearing impairment was documented in three patients (30%). Five patients (50%) had a history surgical intervention. Otorhinolaryngological procedures were the most common operations, followed by inguinal hernia repair, trigger finger release, cervical stabilization, and neurosurgical procedures. Airway abnormalities and cervical spine involvement were notable perioperative findings. Conclusion: This case series demonstrates the marked clinical heterogeneity of MPS and its multisystem manifestations. Despite advances in disease-specific therapy, many patients continue to require multidisciplinary follow-up because of persistent cardiac, auditory, musculoskeletal, and airway involvement. Recognition of perioperative risk factors may facilitate safer surgical management when operative interventions are required.

Anahtar Kelimeler

• mucopolysaccaridosis
• lysosomal storage diseases
• multisystemic involvement

Etik Beyan

This study was conducted in accordance with the principles of the Declaration of Helsinki. Ethical approval was obtained from the Ethics Committee of Etlik City Hospital (Approval No: AEŞH-BADEK1-2026-347, Date: 15.04.2026). Owing to the retrospective design of the study and the use of anonymized medical records, the requirement for written informed consent was waived by the Ethics Committee.

Mukopolisakkaridoz Tanılı Hastalarda Demografik Özellikler, Klinik Bulgular ve Cerrahi Öykü: Tek Merkez Deneyimi

Öz

Amaç: Mukopolisakkaridozlar (MPS), glikozaminoglikanların ilerleyici birikimi ve çoklu sistem tutulumu ile karakterize heterojen bir lizozomal depo hastalıkları grubudur. Geniş klinik spektrumları nedeniyle hastaların yaşam boyu multidisipliner izleme gereksinimi bulunmaktadır. Bu çalışmada, üçüncü basamak bir merkezde takip edilen mukopolisakkaridozlu çocuk hastaların demografik özellikleri, klinik bulguları ve cerrahi öykülerinin değerlendirilmesi amaçlandı. Gereç ve Yöntem: Bu retrospektif tanımlayıcı çalışmaya, tanısı doğrulanmış 10 MPS hastası dahil edildi. Hastaların demografik özellikleri, MPS alt tipi, enzim replasman tedavisi (ERT) durumu, işitme ve oftalmolojik bulguları, kardiyak tutulumları ve cerrahi öyküleri hasta dosyaları geriye dönük olarak incelendi. Bulgular: Çalışmaya 6 erkek ve 4 kız olmak üzere toplam 10 hasta dahil edildi. Olguların üçü MPS VI, ikisi MPS II, biri ise sırasıyla MPS I, MPS IVA, MPS IIIB, MPS IIIC ve MPS IIID tanısına sahipti. Hastaların yedisi (%70) enzim replasman tedavisi almaktaydı. Kardiyak tutulum dört hastada (%40), işitme kaybı ise üç hastada (%30) saptandı. Beş hastanın (%50) en az bir cerrahi girişim öyküsü vardı. En sık uygulanan cerrahi işlemler kulak burun boğaz girişimleri olup, bunu inguinal herni onarımı, tetik parmak cerrahisi, servikal stabilizasyon ve nöroşirürjik girişimler izledi. Havayolu anomalileri ve servikal omurga tutulumu perioperatif dönemde dikkat çeken bulgular olarak değerlendirildi. Sonuç: Bu olgu serisi, mukopolisakkaridozların belirgin klinik heterojenliğini ve çoklu sistem tutulumunu ortaya koymaktadır. Hastalığa özgü tedavilerdeki gelişmelere rağmen, kardiyak, işitsel, kas-iskelet sistemi ve havayolu tutulumlarının devam etmesi nedeniyle birçok hasta multidisipliner izlem gerektirmektedir. Perioperatif risk faktörlerinin erken dönemde tanınması, cerrahi girişim gerektiren hastalarda daha güvenli bir cerrahi yönetim sağlanmasına katkıda bulunabilir.

Anahtar Kelimeler

• lizozomal depo hastalıkları
• çoklu sistem tutulumu
• mukopolisakkaridoz

Kaynakça

1. 1. Hampe CS, Yund BD, Orchard PJ, Lund TC, Wesley J, McIvor RS. Differences in MPS I and MPS II disease manifestations. Int J Mol Sci. 2021;22(15):7888.
2. 2. Zhou J, Lin J, Leung WT, Wang L. A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management. Intractable Rare Dis Res. 2020;9(1):1-9.
3. 3. Shapiro EG, Eisengart JB. The natural history of neurocognition in MPS disorders: A review. Mol Genet Metab. 2021;133(1):8-34.
4. 4. Hampe CS, Wesley J, Lund TC, Orchard PJ, Polgreen LE, Eisengart JB, et al. Mucopolysaccharidosis type I: Current treatments, limitations, and prospects for improvement. Biomolecules. 2021;11(2):189.
5. 5. Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, et al. Cardiac disease in patients with mucopolysaccharidosis: Presentation, diagnosis and management. J Inherit Metab Dis. 2011;34(6):1183-1197.
6. 6. Wolfberg J, Chintalapati K, Tomatsu S, Nagao K. Hearing loss in mucopolysaccharidoses: Current knowledge and future directions. Diagnostics (Basel). 2020;10(8):554.
7. 7. Bianchi PM, Gaini R, Vitale S. ENT and mucopolysaccharidoses. Ital J Pediatr. 2018;44(Suppl 2):127.
8. 8. Arn P, Wraith JE, Underhill L. Characterization of surgical procedures in patients with mucopolysaccharidosis type I: Findings from the MPS I Registry. J Pediatr. 2009;154(6):859-864.e3.

9. 9. Frawley G, Fuenzalida D, Donath S, Yaplito-Lee J, Peters H. A retrospective audit of anesthetic techniques and complications in children with mucopolysaccharidoses. Paediatr Anaesth. 2012;22(8):737-744.
10. 10. Ammer LS, Dohrmann T, Muschol NM, Lang A, Breyer SR, Ozga AK, et al. Disease manifestations in mucopolysaccharidoses and their impact on anaesthesia-related complications: A retrospective analysis of 99 patients. J Clin Med. 2021;10(16):3518.
11. 11. Clark BM, Sprung J, Weingarten TN, Warner ME. Anesthesia for patients with mucopolysaccharidoses: Comprehensive review of the literature with emphasis on airway management. Bosn J Basic Med Sci. 2018;18(1):1-7.
12. 12. Walker R, Belani KG, Braunlin EA, Bruce IA, Hack H, Harmatz PR, et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):211-219.
13. 13. Moretto A, Bosatra MG, Marchesini L, Tesoro S. Anesthesiological risks in mucopolysaccharidoses. Ital J Pediatr. 2018;44(Suppl 2):116.
14. 14. Solanki GA, Alden TD, Burton BK, Giugliani R, Horovitz DD, Jones SA, et al. A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI. Mol Genet Metab. 2012;107(1-2):15-24.
15. 15. Terai H, Nakamura H. Surgical management of spinal disorders in people with mucopolysaccharidoses. Int J Mol Sci. 2020;21(3):1171.
16. 16. Pantel T, Lindschau M, Luebke AM, Kunkel P, Dreimann M, Muschol N, et al. Spinal cord compression in patients with mucopolysaccharidosis. Eur Spine J. 2022;31(7):1693-1699.
17. 17. Scaravilli V, Zanella A, Ciceri V, Bosatra M, Flandoli C, La Bruna A, et al. Safety of anesthesia for children with mucopolysaccharidoses: A retrospective analysis of 54 patients. Paediatr Anaesth. 2018;28(5):436-442.