Lipodistrofia Congénita Generalizada. Informe de caso
Keywords:
Lipodystrophy, Congenital Generalized, Insulin Resistance, Hypertriglyceridemia
Abstract
Congenital Generalized Lipodystrophy or Berardinelli-Seip syndrome, is an autosomal recessive disorder, with low prevalence worldwide. It is characterized by lipoatrophy, acromegaloid characteristics, hepatomegaly, hypertriglyceridemia, insulin resistance (main criteria); hypertrophic cardiomyopathy, intellectual deterioration, hirsutism, precocious puberty, bone cysts, phlebomegaly (minor criteria). This pathology is classified into 4 types, according to the altered gene and by some additional characteristic symptoms; type 1 (AGPAT2 gene); type 2 (BSCL2 gene); type 3 (CAV1 gene); and type 4 (PTRF gene). The approach of an adolescent who clinically meets clinical diagnostic criteria is performed, genetic diagnostic verification is necessary.
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References
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12. Metwalley KA, Farghaly HS. Berardinelli-Seip syndrome type 1 in an Egyptian child. Indian J Hum Genet. 2014;20(1):75–78. doi:10.4103/0971-6866.132762
13. Bhayana S, and Hegele RA. La base molecular de las lipodistrofias genéticas. Clin Biochem. Mayo de 2002; 35 (3): 171-7.
14. Cardona-Hernández R., Suárez-Ortega L., Torres, M. Lipodistrofia congénita generalizada versus síndrome de Berardinelli-Seip. An Pediatr (Barc). 2011;74:423-410
15. Daher, E. Et, al. Berardinelli syndrome. A case report with fatal outcome. Invest Clin 49(2): 251 - 255, 2008
2. Orphanet [Internet]. Van, L; [Actualizado Enero 2009; Citado 14 abr 2020]. Lipodistrofia congénita de Berardinelli-Seip [Aprox 4 pantallas]. Disponible en: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=ES&Expert=528.
3. Informes Periódicos de Orphanet -Prevalencia de las enfermedades raras: Datos bibliográficos -Enero2020-Número 2. Disponible en: https://www.orpha.net/orphacom/cahiers/docs/ES/Prevalencia_de_las_enfermedades_raras_por_prevalencia_decreciente_o_casos.pdf. 4. Van Maldergem, L., Berardinelli-Seip congenital lipodystrophy. Orphanet encyclopedia. November 2001. http://www.orpha.net/data/patho/GB/uk-berard.pdf.
5. Van Maldergem L. Berardinelli-Seip Congenital Lipodystrophy. 2003 Sep 8 [Updated 2016 Dec 8]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
6. Garg, A. Et, al. A Gene for Congenital Generalized Lipodytrophy Maps to Human Chromosome 9q34. The Journal of Clinical Endocrinology & Metabolism, Volume 84, Issue 9, 1 September 1999, Pages 3390–3394.
7. Magré, J., Delépine, M., Khallouf, E. et al. Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13. Nat Genet. 2001; 28, 365–370.
8. Kim CA, Delépine M, Boutet E, et al. Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab. 2008;93(4):1129–1134.
9. Hayashi YK, Matsuda C, Ogawa M, et al. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest. 2009;119(9):2623–2633.
10. Asociación Médica Mundial. Declaración de Helsinki de la Asociación Médica Mundial. Principios éticos para las investigaciones médicas en seres humanos [sede web]*. Brasil: 64a Asamblea de la Asociación Médica Mundial; 9 de julio del 2018 [acceso 17 de diciembre del 2019]. Disponible en: https://www.wma.net/policies-post/wma-declaration-of-helsinki-ethical-principles-formedical-research-involving-human-subjects/.
11. Jéru, I., Vatier, C., Araujo-Vilar, D., Vigouroux, C., and Lascol, O. Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy. European Journal of Human Genetics. 2016; 24
12. Metwalley KA, Farghaly HS. Berardinelli-Seip syndrome type 1 in an Egyptian child. Indian J Hum Genet. 2014;20(1):75–78. doi:10.4103/0971-6866.132762
13. Bhayana S, and Hegele RA. La base molecular de las lipodistrofias genéticas. Clin Biochem. Mayo de 2002; 35 (3): 171-7.
14. Cardona-Hernández R., Suárez-Ortega L., Torres, M. Lipodistrofia congénita generalizada versus síndrome de Berardinelli-Seip. An Pediatr (Barc). 2011;74:423-410
15. Daher, E. Et, al. Berardinelli syndrome. A case report with fatal outcome. Invest Clin 49(2): 251 - 255, 2008
Published
2020-11-17
How to Cite
1.
Miranda Suárez K, Ochoa Andrade M, Giler N, Bonifaz Valverde M. Lipodistrofia Congénita Generalizada. Informe de caso. PFR [Internet]. 2020Nov.17 [cited 2025Jun.24];5(3). Available from: https://www.practicafamiliarrural.org/index.php/pfr/article/view/181
Section
Casos clínicos y Ejercicios clínico patológicos
