Öz
The tuberous sclerosis complex
is one of the most common neurocutaneous diseases affecting many organs and
systems. It causes serious health and social problems for the patient and his
family as a result of epilepsy and neuropsychiatric disorders. In this study,
we aimed to present 27 patients with tuberous sclerosis complex who were
followed in our clinic. This retrospective study, include 27 patients with the
diagnosis of tuberous sclerosis complex who were followed up in the Pediatric
Neurology Clinic between 2000 and 2005 years. Clinical, laboratory and
demographic data of the patients were reviewed retrospectively. Fifteen
patients (55.6%) were male and 12 patients (44.4%) were female. When the
patients were admitted to hospital before diagnosis, 22 (81.5%) patients had
seizures, 4 (14.8%) had hypopigmented rash and one (3.7%) had abdominal pain. .
Generalized seizures were seen in 13 patients (48.1%), infantile spasm in 6
patients (22.2%) and focal seizures in 3 patients (11.1%). The mean age at
seizure was 28 ± 7.2 months. Among the other findings of the disease,
hypomelanotic macules on the skin were present in all patients. Nine patients
(33.3%) had angiofibroma. In our study, It was observed that the complaint at
presentation was seizure. However, as in a patient in our study, it was
observed that TSC patients may present to the hospital with abdominal pain.
Although imaging methods were more accessible, the age at diagnosis may
extended to 13 years. We would like to remind that skin examination, especially
in patients with seizures, is still the most important method for the diagnosis
of TSC
Anahtar Kelimeler
Kaynakça
- Referans1. Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet. 2008;23;372(9639):657-68.
- Referans2. Bourneville DM. Sclerose tubereuse der circonvolutions cerebrales:idiotie et epilepsie hemiplegique. Arch Neurol 1880; (1): 81-91.
- Referans3. Jülich K, Sahin M. Mechanism-based treatment in tuberous sclerosis complex. Pediatr Neurol. 2014;50(4):290-6.
- Referans4. European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell.1993; 31;75(7):1305-15.
- Referans5. Schwartz RA, Fernández G, Kotulska K, Jo´zwiak S. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol. 2007; 57(2): 189-202
- Referans6. 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(4): 243-54.
- Referans7. KrishnanA, Kaza RK, Vummidi DR. Cross-sectional imaging review of tuberous sclerosis. Radiol Clin North. Am. 2016;54(3):423-40.
- Referans8. Grajkowska W, Kotulska K, Jurkiewicz E, Matyja E. Brain lesions in tuberous sclerosis complex. Folia Neuropathol. 2010;48(3):139–149
- Referans9. Beaumont TL, Limbrick DD, Smyth MD. Advances in the management of subependymal giant cell astrocytoma. Childs Nerv Syst. 2012;28(7):963-8
- Referans10. Henske EP, Józwiak S, Kingswood JC, Sampson JR, Thiele EA. Tuberous sclerosis complex. Nat Rev Dis Primers. 2016;26;2:16035
- Referans11. Wong M. Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation. Epilepsia. 2008;49(1):8-21.
- Referans12. Thiele EA, Granata T, Matricardi S, Chugani HT. Transition into adulthood: Tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis. Epilepsia. 2014;55 Suppl 3:29-33.
- Referans13. Both P, Ten Holt L, Mous S, Patist J, Rietman A, Dieleman G, Ten Hoopen L, Vergeer M, de Wit MC, Bindels-de Heus K, Moll H, van Eeghen A. Tuberous sclerosis complex: Concerns and needs of patients and parents from the transitional period to adulthood. Epilepsy Behav. 2018;83:13-21
- Referans14. Peron A, Vignoli A, LaBriola F, Morenghi E, Tansini L, Alfano RM. TSC Study Group of the San Paolo Hospital of Milan. Deep phenotyping of patients with tuberous sclerosis complex and no mutation identified in TSC1 and TSC2. Eur J Med Genet. 2018;61(7):403-410.
- Referans15. Wilde L, Eden K, de Vries P, Moss J, Welham A, Oliver C. Self-injury and aggression in adults with tuberous sclerosis complex: Frequency, associated person characteristics, and implications for assessment. Res Dev Disabil. 2017;64:119-130
- Referans16. Vignoli A, La Briola F, Peron A, Turner K, Vannicola C, Saccani M, Magnaghi E, Scornavacca GF, Canevini MP. Autism spectrum disorder in tuberous sclerosis complex: Searching for risk markers. Orphanet J Rare Dis. 2015;2;10:154.
- Referans17. Pirson Y. Tuberous sclerosis complex-associated kidney angiomyolipoma: from contemplation to action. Nephrol Dial Transplant. 2013;28(7):1680-85
- Referans18. Stillwell TJ, Gomez MR, Kelalis PP. Renal lesions in tuberous sclerosis. J Urol. 1987;138(3):477-81
- Referans19. Tsai JD, Wei CC, Chen SM, Lue KH, Sheu JN. Association between the growth rate of renal cysts/angiomyolipomas and age in the patients with tuberous sclerosis complex. Int Urol Nephrol. 2014;46(9):1685-90
- Referans20. Shepherd C, Gomez M, Lie J, Crowson C. Causes of death in patients with tuberous sclerosis. Mayo Clinic Proceedings. 1991;66(8), 792-96
- Referans21. Hamer HM, Pfäfflin M, Baier H, Bösebeck F, Franz M, Holtkamp M,at all. Characteristics and healthcare situation of adult patients with tuberous sclerosis complex in German epilepsy centers. Epilepsy Behav. 2018;82:64-67
- Referans22. Webb DW, Thomas RD, Osborne JP. Cardiac rhabdomyomas and their association with tuberous sclerosis. Arch Dis Child. 1993; 68(3): 367-70.
- Referans23. Cudzilo CJ, Szczesniak RD, Brody AS, Rattan MS, Krueger DA, Bissler JJ, Franz DN, McCormack FX, Young LR. Lymphangioleiomyomatosis screening in women with tuberous sclerosis. Chest. 2013;144(2):578-85.
- Referans24. Rowley SA, O’Callaghan FJ, Osborne JP. Ophthalmic manifestations of tuberous sclerosis: a population based study. Br J Ophthalmol. 2001; 85(4): 420-3
- Referans25. Avila NA, Dwyer AJ, Rabel A, Darling T, Hong CH, Moss J. CT of sclerotic bone lesions: Imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis. Radiology. 2010 ;254(3):851-7.
Öz
Tüberoskleroz kompleksi, sık görülen,
birçok organ ve sistemi etkileyen nörokutanöz hastalıklardan biridir. Neden
olduğu epilepsi ve nöropsikiyatrik bozukluklar sonucunda hasta ve ailesi için
ciddi sağlık ve sosyal problemler oluşmasına yol açar. Biz bu çalışmada
kliniğimizde takip ettiğimiz 27 tüberoskleroz kompleks hastasını sunmayı
amaçladık. Retrospektif olarak planlanan bu çalışmada, Çocuk Nörolojisi
Kliniği’nde 2000-2005 yılları arasında tüberoskleroz kompleks tanısı ile takip
edilen 27 hasta çalışmaya alındı. Hastaların, klinik, laboratuvar ve demografik
verileri geriye dönük olarak derlendi. Çalışmaya alınan hastaların 15’i (%55,6)
erkek ve 12’si (%44,4)kadın idi. Hastaların tanı almadan önce hastaneye başvuru
şikayetlerine bakıldığında, 22 (%81,5) hastanın nöbet geçirme nedeni ile, 4
hastanın (%14,8) hipopigmente döküntü nedeni ile ve bir hastanın (%3,7) karın
ağrısı nedeni ile hastaneye başvurduğu görüldü. Nöbet geçiren 13 (%48,1)
hastada jeneralize nöbet, 6 hastada infantil spasm(%22,2), 3 hastada(%11,1)
fokal nöbet saptandı. Ortalama nöbet geçirme yaşı 28 ±7,2 aydı. Hastalığın
diğer bulguları arasında, ciltte hipomelanotik maküller hastaların hepsinde
vardı. Dokuz hastada (%33,3) yüzde anjiofibrom vardı. Çalışmamızda hastaların,
literatürle uyumlu olarak, en sık nöbet geçirme nedeni ile hastaneye
başvurduktan sonra tanı aldıkları görüldü. Ancak karın ağrısı gibi tipik
olmayan bir yakınma ile başvuran hastamızda mevcuttu. Görüntüleme yöntemlerinin
daha ulaşılabilir olmasına rağmen, tanı yaşının 13 yıla kadar uzadığı tespit
edildi. Özellikle nöbet geçiren hastalarda yapılacak cilt muayenesinin, halen
tüberoskleroz hastalığının tanısı için en önemli yöntem olduğunu hatırlatmak
istiyoruz.
Anahtar Kelimeler
Kaynakça
- Referans1. Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet. 2008;23;372(9639):657-68.
- Referans2. Bourneville DM. Sclerose tubereuse der circonvolutions cerebrales:idiotie et epilepsie hemiplegique. Arch Neurol 1880; (1): 81-91.
- Referans3. Jülich K, Sahin M. Mechanism-based treatment in tuberous sclerosis complex. Pediatr Neurol. 2014;50(4):290-6.
- Referans4. European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell.1993; 31;75(7):1305-15.
- Referans5. Schwartz RA, Fernández G, Kotulska K, Jo´zwiak S. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol. 2007; 57(2): 189-202
- Referans6. 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(4): 243-54.
- Referans7. KrishnanA, Kaza RK, Vummidi DR. Cross-sectional imaging review of tuberous sclerosis. Radiol Clin North. Am. 2016;54(3):423-40.
- Referans8. Grajkowska W, Kotulska K, Jurkiewicz E, Matyja E. Brain lesions in tuberous sclerosis complex. Folia Neuropathol. 2010;48(3):139–149
- Referans9. Beaumont TL, Limbrick DD, Smyth MD. Advances in the management of subependymal giant cell astrocytoma. Childs Nerv Syst. 2012;28(7):963-8
- Referans10. Henske EP, Józwiak S, Kingswood JC, Sampson JR, Thiele EA. Tuberous sclerosis complex. Nat Rev Dis Primers. 2016;26;2:16035
- Referans11. Wong M. Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation. Epilepsia. 2008;49(1):8-21.
- Referans12. Thiele EA, Granata T, Matricardi S, Chugani HT. Transition into adulthood: Tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis. Epilepsia. 2014;55 Suppl 3:29-33.
- Referans13. Both P, Ten Holt L, Mous S, Patist J, Rietman A, Dieleman G, Ten Hoopen L, Vergeer M, de Wit MC, Bindels-de Heus K, Moll H, van Eeghen A. Tuberous sclerosis complex: Concerns and needs of patients and parents from the transitional period to adulthood. Epilepsy Behav. 2018;83:13-21
- Referans14. Peron A, Vignoli A, LaBriola F, Morenghi E, Tansini L, Alfano RM. TSC Study Group of the San Paolo Hospital of Milan. Deep phenotyping of patients with tuberous sclerosis complex and no mutation identified in TSC1 and TSC2. Eur J Med Genet. 2018;61(7):403-410.
- Referans15. Wilde L, Eden K, de Vries P, Moss J, Welham A, Oliver C. Self-injury and aggression in adults with tuberous sclerosis complex: Frequency, associated person characteristics, and implications for assessment. Res Dev Disabil. 2017;64:119-130
- Referans16. Vignoli A, La Briola F, Peron A, Turner K, Vannicola C, Saccani M, Magnaghi E, Scornavacca GF, Canevini MP. Autism spectrum disorder in tuberous sclerosis complex: Searching for risk markers. Orphanet J Rare Dis. 2015;2;10:154.
- Referans17. Pirson Y. Tuberous sclerosis complex-associated kidney angiomyolipoma: from contemplation to action. Nephrol Dial Transplant. 2013;28(7):1680-85
- Referans18. Stillwell TJ, Gomez MR, Kelalis PP. Renal lesions in tuberous sclerosis. J Urol. 1987;138(3):477-81
- Referans19. Tsai JD, Wei CC, Chen SM, Lue KH, Sheu JN. Association between the growth rate of renal cysts/angiomyolipomas and age in the patients with tuberous sclerosis complex. Int Urol Nephrol. 2014;46(9):1685-90
- Referans20. Shepherd C, Gomez M, Lie J, Crowson C. Causes of death in patients with tuberous sclerosis. Mayo Clinic Proceedings. 1991;66(8), 792-96
- Referans21. Hamer HM, Pfäfflin M, Baier H, Bösebeck F, Franz M, Holtkamp M,at all. Characteristics and healthcare situation of adult patients with tuberous sclerosis complex in German epilepsy centers. Epilepsy Behav. 2018;82:64-67
- Referans22. Webb DW, Thomas RD, Osborne JP. Cardiac rhabdomyomas and their association with tuberous sclerosis. Arch Dis Child. 1993; 68(3): 367-70.
- Referans23. Cudzilo CJ, Szczesniak RD, Brody AS, Rattan MS, Krueger DA, Bissler JJ, Franz DN, McCormack FX, Young LR. Lymphangioleiomyomatosis screening in women with tuberous sclerosis. Chest. 2013;144(2):578-85.
- Referans24. Rowley SA, O’Callaghan FJ, Osborne JP. Ophthalmic manifestations of tuberous sclerosis: a population based study. Br J Ophthalmol. 2001; 85(4): 420-3
- Referans25. Avila NA, Dwyer AJ, Rabel A, Darling T, Hong CH, Moss J. CT of sclerotic bone lesions: Imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis. Radiology. 2010 ;254(3):851-7.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | ORİJİNAL MAKALELER / ORIGINAL ARTICLES |
| Yazarlar | |
| Yayımlanma Tarihi | 13 Temmuz 2020 |
| Yayımlandığı Sayı | Yıl 2020 Cilt: 42 Sayı: 4 |