Padilla-Vázquez F, Mendizábal-Guerra R, Ayala AA, Acosta-Garces R, Melo-Guzmán G, Rosas-Mora I

Language: Spanish
References: 26
Page: 132-137
PDF size: 150.35 Kb.

ABSTRACT

The first descriptions of tuberous sclerosis were reported in 1880 by Desire Maloire Bourneville, who determinates thereafter the descriptions of the cerebral patology and the neurologic signs. It was until the beginnings of the XX century that were aquisited more imagine and clinic information about the tuberous sclerosis. The association of cerebral, renal, cardiac and dermatologic damages was recognized in 1905, making that way the Vogt triads, that consists of epilepsy, cognitive alterations and behavior changes. They generate cerebral disorders like cortical tubers, subependimarious nodules, subependimarious astrocytoms and white substance anomalies. The tuberous sclerosis is a genetic disease, with defects in the production of hamartin (TSC1) in the locus of chromosome 9, and of tuberin (TSC9) in the locus of chromosome 16. The hamartin and tuberin have an inhibitor effect in the growing cells. We reported 3 cases with tuberous sclerosis, a 7 years boy who has uniquely sebaceous adenoms and subependimaria astrocytoma, a 31 years old woman who presents sebaceous adenoms, large evolution seizures and subepedimarious astrocytoma, and 35 year old man who presents seizures, sebaceous adenom and psychomotor deficit.

REFERENCES

1. A Karim. Le sclerose tubereuse de Bournevilles manifestations. J Fr Ophtalmol 2006;29,3,338-9.

2. Michelle J. Imagin characteristic and growth of subependymal giant cell astrocytomas. Neurosurgery Focus 2006;20(1);5.

3. Todd McCall. Tuberous sclerosis; a syndrome of incomplete tumor suppression. Neurosurgery Focus 2006;20(1);E3.

4. Jacques Poirner, Desiré Bourneville. J Neurol 2000; 247:481.

5. Hao Ding. A review of astrocytoma models. Neurosurgery Focus 2000;8 (4),article 1.

6. Jozwiak S. Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course and diagnostic significance. Int J Dermatol 1998;37:911.

7. Roach ES. Tuberous sclerosis consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998;13:624.

8. Narayanan V. Tuberous sclerosis complex: genetics to pathogenesis. Pediatr Neurol 2003;29:404.

9. Birchenall-Roberts MC. Tuberous sclerosis complex 2 gene product interacts with human SMAD proteins: a molecular link of two tumor suppressor pathways. J Biol Chem 2004 Apr 2 [Epub ahead of print].

10. Laass MW. Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant. Pediatr Nephrol 2004; Mar 9 [Epub ahead of print].

11. Heenan PJ. Tumors of the fibrous tissue involving the skin. In: Elder D. Eds. Lever’s Histopathology of the Skin. Eighth edition. Philadelphia: Lippincott Williams & Wilkins,1997: 847.

12. Robert J Bollo. Epilepsy surgery and tuberous sclerosis complex, special considerations. Neurosurg Focus 2008;25 (3): E13.

13. Leandro R, Tuberous sclerosis complex: molecular pathogenesis and animal models. Neurosurg Focus 2006;20 (1).7

14. Stefan Mennel, Auto fluorescence and angiographic findings of retinal astrocytic Hamartomas in tuberous sclerosis. Ophtalmologica 2005;219:350-6.

15. Vinodh Narayanan. Tuberous sclerosis complex; genetic to pathogenesis. Pediatric Neurol Vol 29,25.

16. Rodriguez GM. History of the tuberous sclerosis complex. Brain Developm 1995;17:55-7.

17. Patrick J Morrison. Tuberous sclerosis: epidemiology, genetics and progress towards treatment. Neuroepidemiol 2009; 33:342-3.

18. Valerio Napolioni. Genetics and molecular biology of tuberous sclerosis complex. Current Genomics 2008;9,475-87.

19. Daniela Dumitrescu. Tuberous sclerosis complex: report of two intrafamilial cases, both in mother and daughter. Romanian J Morphol Embryol 2009;50(1):119-24.

20. Susana Camposano. Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified. Ann Hum Genet 2009 march; 73(2):141-6.

21. Dworakowska. Are neuroendocrine tumours a feature of tuberois sclerosis? A systematic review. Endocrine-related Cancer 2009;16:45-58.

22. Khanna. Ultrafast MRI in the prenatal diagnosis of Bourneville´s tuberous sclerosis. Neurology India 2005;53:3.

23. Patrick J. Morrison. Tuberous sclerosis: epidemiology. Genetics and progress towards treatment. Neuroepidemiol 2009; 33:342-3.

24. Valerio Napolioni. Genetics and molecular biology of tuberous Sclerosis Complex. Current Genomics 2008;9,475-87.

25. Susana Camposano. Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified. Ann Hum Genet 2009; march;73(2):141-6.

26. Dumitrescu Daniela. Tuberous sclerosis complex: report of two intrafamilial cases, both in mother and daughter, Romanian J Morphol Embryol 2009, 50(1):119-24.