Síndrome de Beckwith- Wiedemann y trastorno por déficit de atención con hiperactividad
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Publicado
2014-09-12
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Rivera Miera, R., & Ruiz Sanz, F. C. (2014). Síndrome de Beckwith- Wiedemann y trastorno por déficit de atención con hiperactividad. Revista De Psiquiatría Infanto-Juvenil, 31(3), 37–42. Recuperado a partir de https://www.aepnya.eu/index.php/revistaaepnya/article/view/171
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Caso clínico
Palabras clave:
comorbilidad, Trastorno por déficit de atención con Hiperactividad, Síndrome de Beckwith-WiedemannResumen
Presentamos un caso clínico de comorbilidad entre el Trastorno por déficit de atención con Hiperactividad y el Síndrome de Beckwith-Wiedemann. Se analizan las características más importantes de este síndrome, su clínica, riesgos y consecuencias más relevantes.
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Citas
1. Wiedemann HR. Familial malformation complex with umbilical hernia and macroglossia - a “new syndrome”? J Genet Hum 1964; 13: 223-232.
2. Beckwith JB, Wang CL. Donnell GN, Gwinn JL. Hyperplastic fetal visceromegaly with macroglossia, omphalocele, cytomegaly of adrenal fetal cortex, postnatal somatic gigantism and other abnormalities: newly recognized syndrome. Proc Am Pediatr Soc, Seattle, Washington, Abstract 41, June 16-18, 1964.
3. Falcón Neira Y, Vásquez Miranda D, Ramírez Cortes G. Síndrome de Beckwith-Wiedemann: reporte de un caso. Paediatrica 2005; 7 (2): 71-75.
4. Cohen MM Jr. Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. Pediatr Dev Pathol 2005; 8: 287-304.
5. Salgado Moreno R, García Delgado C, Cervantes-Peredo A, García Morales L, Martínez Barrera LE, Peñalosa-Espinosa R, Morán Barroso VF. Clinical profile of a patient cohort with Beckwith-Wiedemann syndrome treated at the Hospital Infantil de Mexico Federico Gómez (2007-2012). Bol Med Hosp Infant Mex 2013; 70 (2): 166-173.
6. DeBaun MR, Niemitz EL, Feinberg AP. Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. Am J Hum Genet 2003; 72: 156-160.
7. Wiedemann HR. Genital overgrowth in the EMG syndrome (Letter). Am J Med Genet 1989; 32: 255-256.
8. Sippell WG, Partsch CJ, Wiedemann HR. Growth, bone maturation and pubertal development in children with the EMG-syndrome. Clin Genet 1989; 35: 20-28.
9. Best LG, Hoekstra RE. Wiedemann-Beckwith syndrome: autosomal-dominant inheritance in a family. Am J Med Genet 1981; 9: 291-299.
10. Chitayat D, Rothchild A, Ling E, Friedman JM, Couch RM, Yong SL, Baldwin VJ, Hall JG. Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome. Am J Med Genet 1990; 36: 434-439.
11. Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet 2010; 18: 8-14.
12. Nivelon-Chevallier A, Mavel A, Michiels R, Bethenod M. Familial Wiedemann-Beckwith syndrome: prenatal echography diagnosis and histologic confirmation. J Genet Hum 1983; 31: 397-402.
13. Winter SC, Curry CJR, Smith JC, Kassel S, Miller L, Andrea J. Prenatal diagnosis of the Beckwith-Wiedemann syndrome. Am J Med Genet 1986; 24: 137-141.
14. Cobelis G, Iannoto P, Stabile M, Lonardo F, Della Bruna M, Caliendo E, Ventruto V. Prenatal ultrasound diagnosis of macroglossia in the Wiedemann-Beckwith syndrome. Prenatal Diag 1988; 8: 79-81.
15. Elliott M, Bayly R, Cole T, Temple IK, Maher ER. Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet 1994; 46: 168-174.
16. Arroyo Carrera I, Martínez-Frías ML, Egüés Jimeno J, García Martínez MJ, Cimadevilla Sánchez CE, Bermejo Sánchez E. Síndrome de Wiedemann-Beckwith: Análisis clínicoepidemiológico de una serie consecutiva de casos en España. An Esp Pediatr 1999; 50: 161-165.
17. Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet 2010; 18: 8-14.
18. Wiedemann HR. Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndrome (Letter). Eur J Pediatr 1983; 141: 129.
19. DeBaun MR, Tucker MA. Risk of cancer during the first four years of life in children from the Beckwith-Wiedemann Syndrome Registry. J Pediatr 1998; 132: 398-400.
20. Falik-Borenstein TC, Korenberg JR, Davos I, Platt LD, Gans S, Goodman B, Schreck R, Graham JM Jr. Congenital gastric teratoma in Wiedemann-Beckwith syndrome. Am J Med Genet 1991; 38: 52-57.
21. Choyke PL, Siegel MJ, Oz O, Sotelo-Avila C, DeBaun MR. Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome. Am J Roentgen 1998; 171: 733-737.
22. Goldman M, Shuman C, Weksberg R, Rosenblum ND. Hypercalciuria in Beckwith-Wiedemann syndrome. J Pediatr 2003; 142: 206-208.
23. Gardiner K, Chitayat D, Choufani S, Shuman C, Blaser S, Terespolsky D, Farrell S, Reiss R, Wodak S, Pu S, Ray PN, Baskin B, Weksberg R. Brain abnormalities in patients with Beckwith-Wiedemann syndrome. Am J Med Genet 2012; 158A: 1388-1394.
24. Martinez-y-Martinez R, Martinez-Carboney R, Ocampo-Campos R, Rivera H, Gomez Plascencia y Castillo J, Cuevas A, Martin Manrique MC. Wiedemann-Beckwith syndrome: clinical, cytogenetical and radiological observations in 39 new cases. Genet Counsel 1992; 3: 67-76.
25. Gracia Bouthelier R, Lapunzina P. Follow-up and risk of tumors in overgrowth syndromes. J Pediatr Endocrinol Metab 2005; 18 (Suppl 1): 1227-35.
26. Savarirayan R, BankierA. Simpson-Golabi-Behmel syndrome and attention deficit hyperactivity disorder in two brothers. J Med Genet 1999; 36 (7): 574-6.
27. Lapunzina Badía P, Campo Casanelles M, Delicado Navarro A, Fernández-Toral J, García-Alix A, García-Guereta L, Pérez Jurado LA, Ramos Fuentes FJ, Sánchez Díaz A, Urioste Azcorra M. Guía clínica para el seguimiento de pacientes con síndrome de Beckwith-Wiedemann. An Pediatr 2006; 64 (3): 252-9.
28. Capdevila-Brophy C, Navarro-Pastor JB, Artigas-Pallarés J, Obiols-Llandrich J. Complicaciones obstétricas y médicas en el Trastorno de Déficit Atencional/Hiperactividad (TDAH): ¿hay diferencias entre los subtipos? Int J Clin Health Psychol 2007; 7 (3): 679-695.
2. Beckwith JB, Wang CL. Donnell GN, Gwinn JL. Hyperplastic fetal visceromegaly with macroglossia, omphalocele, cytomegaly of adrenal fetal cortex, postnatal somatic gigantism and other abnormalities: newly recognized syndrome. Proc Am Pediatr Soc, Seattle, Washington, Abstract 41, June 16-18, 1964.
3. Falcón Neira Y, Vásquez Miranda D, Ramírez Cortes G. Síndrome de Beckwith-Wiedemann: reporte de un caso. Paediatrica 2005; 7 (2): 71-75.
4. Cohen MM Jr. Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. Pediatr Dev Pathol 2005; 8: 287-304.
5. Salgado Moreno R, García Delgado C, Cervantes-Peredo A, García Morales L, Martínez Barrera LE, Peñalosa-Espinosa R, Morán Barroso VF. Clinical profile of a patient cohort with Beckwith-Wiedemann syndrome treated at the Hospital Infantil de Mexico Federico Gómez (2007-2012). Bol Med Hosp Infant Mex 2013; 70 (2): 166-173.
6. DeBaun MR, Niemitz EL, Feinberg AP. Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. Am J Hum Genet 2003; 72: 156-160.
7. Wiedemann HR. Genital overgrowth in the EMG syndrome (Letter). Am J Med Genet 1989; 32: 255-256.
8. Sippell WG, Partsch CJ, Wiedemann HR. Growth, bone maturation and pubertal development in children with the EMG-syndrome. Clin Genet 1989; 35: 20-28.
9. Best LG, Hoekstra RE. Wiedemann-Beckwith syndrome: autosomal-dominant inheritance in a family. Am J Med Genet 1981; 9: 291-299.
10. Chitayat D, Rothchild A, Ling E, Friedman JM, Couch RM, Yong SL, Baldwin VJ, Hall JG. Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome. Am J Med Genet 1990; 36: 434-439.
11. Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet 2010; 18: 8-14.
12. Nivelon-Chevallier A, Mavel A, Michiels R, Bethenod M. Familial Wiedemann-Beckwith syndrome: prenatal echography diagnosis and histologic confirmation. J Genet Hum 1983; 31: 397-402.
13. Winter SC, Curry CJR, Smith JC, Kassel S, Miller L, Andrea J. Prenatal diagnosis of the Beckwith-Wiedemann syndrome. Am J Med Genet 1986; 24: 137-141.
14. Cobelis G, Iannoto P, Stabile M, Lonardo F, Della Bruna M, Caliendo E, Ventruto V. Prenatal ultrasound diagnosis of macroglossia in the Wiedemann-Beckwith syndrome. Prenatal Diag 1988; 8: 79-81.
15. Elliott M, Bayly R, Cole T, Temple IK, Maher ER. Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet 1994; 46: 168-174.
16. Arroyo Carrera I, Martínez-Frías ML, Egüés Jimeno J, García Martínez MJ, Cimadevilla Sánchez CE, Bermejo Sánchez E. Síndrome de Wiedemann-Beckwith: Análisis clínicoepidemiológico de una serie consecutiva de casos en España. An Esp Pediatr 1999; 50: 161-165.
17. Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet 2010; 18: 8-14.
18. Wiedemann HR. Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndrome (Letter). Eur J Pediatr 1983; 141: 129.
19. DeBaun MR, Tucker MA. Risk of cancer during the first four years of life in children from the Beckwith-Wiedemann Syndrome Registry. J Pediatr 1998; 132: 398-400.
20. Falik-Borenstein TC, Korenberg JR, Davos I, Platt LD, Gans S, Goodman B, Schreck R, Graham JM Jr. Congenital gastric teratoma in Wiedemann-Beckwith syndrome. Am J Med Genet 1991; 38: 52-57.
21. Choyke PL, Siegel MJ, Oz O, Sotelo-Avila C, DeBaun MR. Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome. Am J Roentgen 1998; 171: 733-737.
22. Goldman M, Shuman C, Weksberg R, Rosenblum ND. Hypercalciuria in Beckwith-Wiedemann syndrome. J Pediatr 2003; 142: 206-208.
23. Gardiner K, Chitayat D, Choufani S, Shuman C, Blaser S, Terespolsky D, Farrell S, Reiss R, Wodak S, Pu S, Ray PN, Baskin B, Weksberg R. Brain abnormalities in patients with Beckwith-Wiedemann syndrome. Am J Med Genet 2012; 158A: 1388-1394.
24. Martinez-y-Martinez R, Martinez-Carboney R, Ocampo-Campos R, Rivera H, Gomez Plascencia y Castillo J, Cuevas A, Martin Manrique MC. Wiedemann-Beckwith syndrome: clinical, cytogenetical and radiological observations in 39 new cases. Genet Counsel 1992; 3: 67-76.
25. Gracia Bouthelier R, Lapunzina P. Follow-up and risk of tumors in overgrowth syndromes. J Pediatr Endocrinol Metab 2005; 18 (Suppl 1): 1227-35.
26. Savarirayan R, BankierA. Simpson-Golabi-Behmel syndrome and attention deficit hyperactivity disorder in two brothers. J Med Genet 1999; 36 (7): 574-6.
27. Lapunzina Badía P, Campo Casanelles M, Delicado Navarro A, Fernández-Toral J, García-Alix A, García-Guereta L, Pérez Jurado LA, Ramos Fuentes FJ, Sánchez Díaz A, Urioste Azcorra M. Guía clínica para el seguimiento de pacientes con síndrome de Beckwith-Wiedemann. An Pediatr 2006; 64 (3): 252-9.
28. Capdevila-Brophy C, Navarro-Pastor JB, Artigas-Pallarés J, Obiols-Llandrich J. Complicaciones obstétricas y médicas en el Trastorno de Déficit Atencional/Hiperactividad (TDAH): ¿hay diferencias entre los subtipos? Int J Clin Health Psychol 2007; 7 (3): 679-695.
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