Journals / Türk Pediatri Arşivi / 2006 / Cilt: 41 - Sayı: 3

The retrospective evaluation of nineteen cases of tuberous sclerosis

Tuberosklerozlu 19 olgunun geriye dönük olarak değerlendirilmesi

Pages
156–160
Publication Date
2022-11-05
DOI
—
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AI Summary & Key Takeaways

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⚡ TL;DR(Too Long; Didn't Read)

Conclusions: It was is found that convulsions, motor mental retardation, hypomelanotic macules and subependimal nodules at cerebral computarized tomography were the most common signs and symptomes.

📌 3 Key Takeaways

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Objective & Hypothesis:Aim: The aim of this study is to evaluate the clinical and laboratory data of cases with tuberous sclerosis retrospectively and to corralate the findings with literature.
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Key Findings & Data:Results: Fourteen of the cases (73.7%) were males and the remainings five were females (26.3%).
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Conclusion & Impact:Conclusions: It was is found that convulsions, motor mental retardation, hypomelanotic macules and subependimal nodules at cerebral computarized tomography were the most common signs and symptomes.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Aim: The aim of this study is to evaluate the clinical and laboratory data of cases with tuberous sclerosis retrospectively and to corralate the findings with literature. Material and Method: Nineteen cases diagnosed as tuberous sclerosis at Medical Faculty of Çukurova University were evaluated retrospectively with their clinical and laboratory findings. Results: Fourteen of the cases (73.7%) were males and the remainings five were females (26.3%). Nineteen cases (89.4%) were admitted with convulsions and two were admitted with skin lesions. All of the patients had hypopigmented skin lesions. The most common findings recorded at cerebral computarized tomography were periventricular subependimal nodules (89.4%). Beside central nervous system and skin findings, four patients with heart (21.1%), two with kidney, also two with eye involvement were detected. Conclusions: It was is found that convulsions, motor mental retardation, hypomelanotic macules and subependimal nodules at cerebral computarized tomography were the most common signs and symptomes.

Özet

Amaç: Tuberoskleroz tanısı koyulan olgularımızın klinik ve laboratuvar bulgularını geriye dönük olarak gözden geçirmek ve literatür ile karşılaştırmaktır. Gereç ve Yöntem: Çukurova Üniversitesi Tıp Fakültesi Çocuk Nöroloji Polikliniği'nde tetkik edilerek tuberoskleroz tanısı koyulan 19 olgunun klinik ve laboratuvar özellikleri geriye dönük olarak incelendi. Bulgular: Çakmaya alınan hastaların 14'ü (%73,7) erkek ve 5'i (%26,3) kız idi. Onyedi olgu (%89,4) konvülziyon geçirme nedeni ile, iki olgu (%10,6) ise vücudundaki lekeler nedeniyle başvurmuştu. Ciltte hipopigmente lezyonlar hastaların hepsinde saptandı. Bilgisayarlı beyin tomografisinde en sık saptanan bulgu periventriküler subepandimal nodüller (%89,4) idi. Merkezi sinir sistemi ve cilt bulguları yanında, dört olguda (%21,1) kalp, iki olguda (%10,5) böbrek ve iki olguda (%10,5) göz tutulumu vardı. Çıkarımlar: Literatürlerle uyumlu olarak konvülziyon, hipopigmente deri lezyonu, zekâ-motor geriliği ve beynin görüntülemesinde subepandimal nodüller en sık görülen belirti ve bulgular olarak dikkat çekti.

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Cite This Article

HERGÜNER, Ö., İNCECİK, F., ÖZCAN, K., ALTUNBAŞAK, A. (2022). The retrospective evaluation of nineteen cases of tuberous sclerosis. Türk Pediatri Arşivi, Cilt: 41 - Sayı: 3, 156–160. https://ajindex.com/articles/641653

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References (17)

  1. Bourneville DM. Sclerose tubereuse der circonvolutions cerebrales: idiotie et epilepsie hemiplegique. Arch Neurol 1880; 1: 81-91
  2. Roach ES, Smith M, Huttenlocher P, Bhat M, Alcorn D, Hawley L. Diagnostic criteria, tuberous sclerosis complex: report of the diagnostic criteria committee of the national tuberous sclerosis association. J Child Neurol 1992; 7: 221-4
  3. Fryer AE, Osborne JP. Tuberous sclerosis â clinical apprasal. Paediatric reviews and communications 1987; 1: 239-55
  4. Ösböme JP, Fryer A, Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 1991; 615: 125-7
  5. Shepherd CW, Houser O W, Gomez MR, MR findings in tuberous sclerosis complex and correlation with seizure development and mental impairment. Am J Neuroradiol 1995; 16: 149-55
  6. Webb DW, Fryer AE, Osbome JP. Morbidity associated with tuberous sclerosis: a population study. Dev Med Child Neurol 1996; 38: 146-55
  7. Pampiglione G, Moynihan EJ. The tuberous sclerosis syndrome: clinical and EEG studies in 100 children. J Neurol Neürosurg Psychiatr 1976; 39: 666
  8. Baron Y, Barkovich J. MR Imaging of tuberosclerosis in neonates and young infants. Am J Neuroradiol 1999; 20: 907-16
  9. Fitzpatrick TB. History and significance of white macules, earliest visible sign of tuberous sclerosis. Ann NY Acad Sci 1991; 615: 26
  10. Reed WB, Nickel WR, Campion G. Internal manifestations of tuberous sclerosis. Arch Dermatol 1963; 87: 715
  11. Roach ES, Williams DP, Laster D W. Magnetic resonance imaging in tuberous sclerosis. Arch Neurol 1987; 44: 301
  12. Braffman BH, Bilaniuk LT, Naidich TP, et al. MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review. Radiology 1992; 183: 227-38
  13. Menor F, Marti-Bonmati L, Mulas F, Poyatos C, Cortina H. Neuroimaging in tuberous sclerosis: a clinicoradiological evaluation in pediatric patients. Pediatr Radiol 1992; 22:485- 9
  14. Quek SC, Yip W, Quek ST, Chang SK, Wong ML, Low PS. Cardiac manifestation in tuberous sclerosis: a 10-year review. J Pediatr Child Health 1998; 34: 283-7
  15. Distefano G, Sciacca P, Mattia C, Tornambere G. Cardac involvement in tuberous sclerosis in the first months of life: physiopathologic and clinical aspects of cardiac rhabdomyoma. Pediatr Med Chir 1998; 20: 29-32
  16. O'Callaghan FJ, Clerke AC, Joffe H. Tuberous sclerosis complex and Wolf-White syndrome. Arch Dis Child 1998; 78: 159-62
  17. Bosi G, Lintermans JP, PellegrinoPA, Svaluto-Moreolo G, Vli