Clinical Characteristics of Patients Followed with Tuberous Sclerosis: Single Center Experience

Yıl 2025, Cilt: 12 Sayı: 1, 29 - 36, 26.03.2025

Çisil Çerçi Kubur , Sibğatullah Ali Orak , Aslı Kübra Atasever , Muzaffer Polat , Halil Ural Aksoy

https://doi.org/10.34087/cbusbed.1475609

Öz

Abstract
Aim: Neurocutaneous syndromes are a group of diseases affecting the nervous system and skin. One of the most common among these is tuberous sclerosis (TS). This study aims to evaluate the clinical characteristics of patients diagnosed with TS followed at Celal Bayar University Child Neurology Polyclinic.
Material and Methods: The medical records of 23 patients diagnosed with TS between January 2005 and January 2023 were retrospectively reviewed.
Results: Out of the 23 patients studied, 9 (39%) were male, and 14 (61%) were female. Only one patient (0.05%) had a family history of the disease. All patients (100%) had a mutation in the TS gene. Although all patients had hypomelanotic macule spots, only four patients (17%) had shagren's patch, and five patients (21%) had angiofibroma. Almost half of the patients (47%) had cognitive disorders and epilepsy, with 11 patients affected in each case.
Discussion and Conclusion: TS is a disease that affects various systems in the body, including the nervous system and skin. Due to the wide range of clinical findings, it is crucial to examine the patient's eyes and skin thoroughly. Children who visit a pediatric neurology outpatient clinic with vague symptoms such as epilepsy and learning disabilities may be diagnosed with TS. Knowledge of the frequency of clinical features associated with the disease can assist in making a diagnosis.

Anahtar Kelimeler

Tuberous sclerosis, hypomelanotic macule, clinical features, shagren, angiofibroma, subependymal nodule

Tuberoskleroz Tanısı ile İzlenen Hastaların Klinik Özellikleri: Tek Merkez Deneyimi

Öz

Özet

Amaç: Nörokutanöz sendromlar sinir sistemini, cildi tutan hastalık grubudur. Bunların arasında en sık görülenlerden biri de tuberoskleroz’dur (TS). Bu çalışmanın amacı Celal Bayar Üniversitesi Çocuk Nörolojisi Polikliniğinde izlenen TS tanılı hastaların klinik özelliklerini değerlendirmektir.
Gereç ve Yöntemler: Ocak 2005-Ocak 2023 tarihleri arasında TS tanılı toplam 23 hastanın dosya kayıtları geriye dönük olarak gözden geçirildi.
Bulgular : Hastaların 9’u (%39) erkek, 14’ü (%61) kızdı. 1 hastada (%0,05) aile öyküsü mevcuttu. Hastaların hepsinde (%100) TS geninde mutasyon saptanmıştı. Hastaların tamamında hipomelanotik makül lekeleri mevcutken, shagren patch 4 hastada (%17), anjiofibroma 5 hastada (%21) rastlandı. 11 hastada (%47) kognitif bozukluklar, 11 hastada (%47) epilepsi vardı.
Tartışma ve Sonuç: TS sinir sistemi, cilt gibi bir çok sistem tutulumu yapan geniş yelpazeli bir hastalıktır. Hastalar çok farklı klinik bulgular ile karşımıza çıkabilir. Epilepsi, öğrenme güçlüğü gibi nonspesifik yakınmalarla çocuk nörolojisi polikliniğine başvuran hastalar dikkatli bir göz ve deri muayenesi ile TS tanısı alabilir. Hastalığın klinik özelliklerinin sıklığının bilinmesi tanı konulmasında yardımcı olacaktır.

Anahtar Kelimeler

Tuberosklerozis, hipomelanotik makül, klinik özellikler, shagren patch, anjiofibrom, subependimal nodül

Kaynakça

• 1. Hallett L, Foster T, Liu Z, et al. Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review. Curr Med Res Opin 2011; 27: 1571-83.
• 2. Schwartz RA, Fernández G, Kotulska K, Jóźwiak S. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol 2007; 57: 189-202.
• 3. Northrup H, Krueger DA, International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol 2013; 49: 243-54.
• 4. Roach E, Gomez M, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998;13: 624-8.
• 5. Saltık S, Karatoprak YE, Taşel B. Tüberoskleroz kompleksi tanılı hastalarda epilepsinin özellikleri ve klinik seyri. Turk Arch Ped 2013; 123-30.
• 6. Jóźwiak S, Domańska-Pakieła D, Kwiatkowski DJ, Kotulska K. Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: case report with molecular confirmation. J Child Neurol 2005; 20: 988-9.
• 7. Mizuguchi M, Takashima S. Neuropathology of tuberous sclerosis. Brain Dev 2001; 23: 508-15.
• 8. Anlar B, Bayoğlu BU, Yalaz K. DENVER II gelişimsel tarama testi “Türk Çocuklarına Uyarlanması ve Standardizasyonu”.Gelişimsel Çocuk Nörolojisi Derneği, Ankara,
• 2009: 5-6. 9. Smalley SL, Burger F, Smith M. Phenotypic variation of tuberous sclerosis in a single extended kindred. J Med Genet 1994; 31: 761-5.
• 10. Yates JR, Maclean C, Higgins JN, et al. The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management. Arch Dis Child 2011; 96: 1020-5.
• 11. Webb DW, Clarke A, Fryer A, Osborne JP. The cutaneous features of tuberous sclerosis: a population study. Br J Dermatol 1996; 135: 1-5.
• 12. Rowley SA, O’Callaghan FJ, Osborne JP. Ophthalmic manifestations of tuberous sclerosis: a population based study. Br J Ophthalmol 2001; 85: 420-3.
• 13. Northrup H, Wheless JW, Bertin TK, Lewis RA. Variability of expression in tuberous sclerosis. J Med Genet 1993; 30: 41-3.
• 14. Nelson CP, Sanda MG. Contemporary diagnosis and management of renal angiomyolipoma. J Urol 2002; 168: 1315-25.
• 15. Goh S, Butler W, Thiele EA. Subependymal giant cell tumors in tuberous sclerosis complex. Neurology 2004; 63: 1457-61.
• 16. Altman NR, Purser RK, Post MJ. Tuberous sclerosis:characteristics at CT and MR imaging. Radiology 1988; 167:527-32.
• 17. Kingsley DP, Kendall BE, Fitz CR. Tuberous sclerosis: a clinicoradiological evaluation of 110 cases with particular reference to atypical presentation. Neuroradiology 1986;28: 38-46.
• 18. Joinson C, O’Callaghan FJ, Osborne JP, et al. Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol Med 2003; 33: 335-44.
• 19. Chu-Shore CJ, Major P, Camposano S, Muzykewicz D,Thiele EA. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia 2010; 51: 1236-41.
• 20. Riikonen R, Simell O. Tuberous sclerosis and infantile spasms. Dev Med Child Neurol 1990; 32: 203-9.
• 21. Westmoreland BF. The electroencephalogram in tuberous sclerosis. In: Gomez MR, Sampson JR, Whittemore VH, (eds).Tuberous sclerosis complex: developmental perspectives in psychiatry. 3rd ed. New York: Oxford University Press; 1999. p.63
• 22. Erol, İ., Savaş, T., Şekerci, S., Yazıcı, N., Erbay, A., Demir, Ş., ... & Alkan, Ö. (2015). Tüberoskleroz kompleksi; Tek merkez deneyimi. Türk Ped Arş, 50, 51-60.
• 23. Pellock JM, Hrachovy R, Shinnar S, et al. Infantile spasms: a US consensus report. Eilepsia 2010; 51: 2175-89.
• 24. Volkmar FR, McPartland JC. From Kanner to DSM-5: Autism as an evolving diagnostic concept. Annu Rev Clin Psychol 2014; 10: 193-212.
• 25. Kopp CM, Muzykewicz DA, Staley BA, et al. Behavior problems in children with Tuberous sclerosis complex and parental stress. Epilepsy Behav 2008; 13: 505-10.
• 26. Kohrman MH. Emergingtreatments in the management of tuberous sclerosis complex. Pediatr Neurol 2012; 46: 267-75.
• 27. Wiegand G, May TW, Ostertag P, Boor R, Stephani U, Franz DN. Everolimus in tuberous sclerosispatients with intractableepilepsy: a treatment option? Eur J Paediatr Neurol 2013; 17: 631-8.