Síndrome de Berardinelli-Seip: reporte de un caso y revisión de la literatura

  • Johnayro Gutiérrez Restrepo Universidad de Antioquia, Hospital Pablo Tobón Uribe
  • Catalina Alzate Monsalve Universidad de Antioquia
Palabras clave: síndrome de Berardinelli-Seip, lipodistrofia generalizada congénita, diabetes mellitus, dislipidemia, hepatomegalia, acantosis nigricans.

Resumen

El síndrome de Berardinelli-Seip, una lipodistrofia congénita, es una enfermedad metabólica rara que se caracteriza por una lipodistrofia generalizada grave, resistencia a la insulina y dislipidemia. La enfermedad se asocia con varias manifestaciones dermatológicas y sistémicas. Las complicaciones incluyen miocardiopatía hipertrófica, hígado graso con disfunción hepática, hipertrofia muscular y varias alteraciones endocrinas. Se presenta un caso de este tipo de lipodistrofia en una mujer de 18 años de edad, que ingresa con un cuadro de hiperglucemia sin evidencia de cetoacidosis o de estado hiperosmolar hiperglucémico, con hepatomegalia, signos de resistencia a la insulina y ausencia de tejido adiposo. Después de los análisis complementarios, se le diagnosticó síndrome de Berardinelli-Seip. El reconocimiento temprano de la lipodistrofia congénita es esencial para prevenir las complicaciones, y permite una asesoría genética y reproductiva de los pacientes y sus familias. Se incluye también una breve revisión de la literatura.

Descargas

La descarga de datos todavía no está disponible.

Biografía del autor/a

Johnayro Gutiérrez Restrepo, Universidad de Antioquia, Hospital Pablo Tobón Uribe

Médico Internista y Endocrinólogo, docente del servicio de Endocrinología, Universidad de Antioquia, Hospital Pablo Tobón Uribe. Medellín, Colombia.

Catalina Alzate Monsalve, Universidad de Antioquia

Médica Internista, Residente de segundo año de Endocrinología, Universidad de Antioquia. Medellín, Colombia.

Referencias bibliográficas

Garg A. Acquired and inherited lipodystrophies. N Engl J Med 2004; 350: 1220-1234.

https://doi.org/10.1056/NEJMra025261

Chan JL, Oral EA. Clinical classification and treatment of congenital and acquired lipodystrophy. Endocr Pract 2010; 16: 310-323.

https://doi.org/10.4158/EP09154.RA

Seip M. Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome? Acta Paediatr 1959; 48: 555-574.

https://doi.org/10.1111/j.1651-2227.1959.tb17558.x

Lawrence RD. Lipodystrophy and hepatomegaly with diabetes, lipaemia, and other metabolic disturbances: a case throwing new light on the action of insulin. Lancet 1946; 1: 724.

https://doi.org/10.1016/S0140-6736(46)90528-4

Berardinelli W. An undiagnosed endocrinometabolic syndrome: report of 2 cases. J Clin Endocrinol Metab 1954; 14: 193-204.

https://doi.org/10.1210/jcem-14-2-193

Van Maldergem L. Berardinelli-Seip congenital lipodystrophy. February 23, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1212.

Torres R, Ballona R, Caytano M. Síndrome de Seip Berardinelli: Reporte de 5 casos en el Instituto de Salud del Niño (ISN). Folia Dermatol (Perú) 1999; 10: 43-47.

Garg A, Wilson R, Barnes R, Arioglu E, Zaidi Z, Gurakan F, et al. Agene for congenital generalized lipodystropy maps to human chromosome 9q34. J Clin Endocrinol Metab 1999; 84: 3390-3394.

https://doi.org/10.1210/jcem.84.9.6103

Magré J, Delépine M, Khallouf E, Gedde-Dahl T, Jr., Van Maldergem L, Sobel E, et al. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet 2001; 28: 365-370.

https://doi.org/10.1038/ng585

Garg A, Agarwal AK. Lipodystrophies: disorders of adipose tissue biology. Biochim Biophys Acta 2009; 1791: 507-513.

https://doi.org/10.1016/j.bbalip.2008.12.014

Capeau J, Magre J, Lascols O, Caron M, Bereziat V, Vigouroux C, et al. Diseases of the adipose tissue: genetic and acquired lipodystrophies. Biochem Soc Trans 2005; 33 (Pt5): 1073-1077.

https://doi.org/10.1042/BST0331073

Shirwalkar HU, Patel ZM, Magre J, Hilbert P, Van Maldergem L, Mukhopadhyay RR, et al. Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene. J Inherit Metab Dis 2008; 31 (Suppl 2): S317-S322.

https://doi.org/10.1007/s10545-008-0899-5

Simha V, Garg A. Inherited lipodystrophies and hypertriglyceridemia. Curr Opin Lipidol 2009; 20: 300-3008.

https://doi.org/10.1097/MOL.0b013e32832d4a33

Agarwal AK, Arioglu E, De Almeida S, Akkoc N, Taylor SI, Bowcock AM, et al. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet 2002; 31: 21-23.

https://doi.org/10.1038/ng880

Magré J, Delépine M, Van Maldergem L, Robert JJ, Maassen JA, Meier M, et al. Prevalence of mutations in AGPAT2 among human lipodystrophies. Diabetes 2003; 52: 1573-1578.

https://doi.org/10.2337/diabetes.52.6.1573

Gomes KB, Fernandes AP, Ferreira AC, Pardini H, Garg A, Magré J, et al. Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. J Clin Endocrinol Metab 2004; 89: 357-61.

https://doi.org/10.1210/jc.2003-030415

Gomes KB, Pardini VC, Ferreira AC, Fonseca CG, Fernandes AP. Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil. Ann Hum Genet 2007; 71: 729-734.

https://doi.org/10.1111/j.1469-1809.2007.00369.x

Kim CA, Delépine M, Boutet E, El Mourabit H, Le Lay S, Meier M, et al. Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab 2008; 93: 1129-1134.

https://doi.org/10.1210/jc.2007-1328

Gomes BK, Cavalcanti V, Fernandes AP. Clinical and molecular aspects of Berardinelli-Seip congenital lipodystrophy (BSCL). Clin Chim Acta 2009; 402: 1-6.

https://doi.org/10.1016/j.cca.2008.12.032

Miranda DM, Wajchenberg BL, Calsolari MR, Aguiar MJ, Silva JM, Ribeiro MG, et al. Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. Clin Endocrinol (Oxf) 2009; 71: 512-517.

https://doi.org/10.1111/j.1365-2265.2009.03532.x

Javor ED, Moran SA, Young JR, Cochran EK, DePaoli AM, Oral EA, et al. Proteinuric nephropathy in acquired and congenital generalized lipodystrophy: baseline characteristics and course during recombinant leptin therapy. J Clin Endocrinol Metab 2004; 89: 3199-3207.

https://doi.org/10.1210/jc.2003-032140

Musso C, Javor E, Cochran E, Balow JE, Gorden P. Spectrum of renal diseases associated with extreme forms of insulin resistance. Clin J Am Soc Nephrol 2006; 1: 616-622.

https://doi.org/10.2215/CJN.01271005

Chandalia M, Garg A, Vuitich F, Nizzi F. Postmortem findings in congenital generalized lipodystrophy. J Clin Endocrinol Metab 1995; 80: 3077-3081.

https://doi.org/10.1210/jcem.80.10.7559900

Flier JS, Mantzoros C. Syndromes of Severe Insulin Resistance and Mutant Insulin. In: De Groot L, Jameson JL, editors. Endocrinology, 4th edition. Philadelphia: WB Saunders; 2001. p 799.

Shimomura I, Hammer RE, Richardson JA, Ikemoto S, Bashmakov Y, Goldstein JL, et al. Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. Genes Dev 1998; 12: 3182-3194.

https://doi.org/10.1101/gad.12.20.3182

Moitra J, Mason MM, Olive M, Krylov D, Gavrilova O, Marcus-Samuels B, et al. Life without white fat: a transgenic mouse. Genes Dev 1998; 12: 3168-3181.

https://doi.org/10.1101/gad.12.20.3168

Ahima RS, Flier JS. Adipose Tissue as an endocrine organ. Trends Endocrinol Metab 2000; 11: 327-332.

https://doi.org/10.1016/S1043-2760(00)00301-5

Pardini VC, Victória IM, Rocha SM, Andrade DG, Rocha AM, Pieroni FB, et al. Leptin levels, beta-cell function, and insulin sensitivity in families with congenital and acquired generalized lipoatropic diabetes. J Clin Endocrinol Metab 1998; 83: 503-508.

https://doi.org/10.1210/jc.83.2.503

Mantzoros CS, Moses AC. Treatment of severe insulin resistance. In: Azziz, R, Nestler, JE, Dewailly, D, editors. Androgen excess disorders in women. Philadelphia: Lippincott Raven; 1997. p. 247.

Oral EA, Simha V, Ruiz E, Andewelt A, Premkumar A, Snell P, et al. Leptin-replacement therapy for lipodystrophy. N Engl J Med 2002; 346: 570-578.

https://doi.org/10.1056/NEJMoa012437

Petersen KF, Oral EA, Dufour S, Befroy D, Ariyan C, Yu C, et al. Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy. J Clin Invest 2002; 109: 1345-1350.

https://doi.org/10.1172/JCI0215001

McDuffie JR, Riggs PA, Calis KA, Freedman RJ, Oral EA, DePaoli AM, et al. Effects of exogenous leptin on satiety and satiation in patients with lipodystrophy and leptin insufficiency. J Clin Endocrinol Metab 2004; 89: 4258-4263.

https://doi.org/10.1210/jc.2003-031868

Javor ED, Cochran EK, Musso C, Young JR, Depaoli AM, Gorden P. Long-term efficacy of leptin replacement in patients with generalized lipodystrophy. Diabetes 2005; 54: 1994-2002.

https://doi.org/10.2337/diabetes.54.7.1994

Oral EA, Chan JL. Rationale for leptin-replacement therapy for severe lipodystrophy. Endocr Pract 2010; 16: 324-333.

https://doi.org/10.4158/EP09155.RA

Chong AY, Lupsa BC, Cochran EK, Gorden P. Efficacy of leptin therapy in the different forms of human lipodystrophy. Diabetologia 2010; 53: 27-35.

https://doi.org/10.1007/s00125-009-1502-9

Mantzoros CS. W(h)ither metreleptin for lipodystrophy and the metabolic syndrome? Endocr Pract 2010; 16: 162-166.

https://doi.org/10.4158/EP10038.ED

Park JY, Chong AY, Cochran EK, Kleiner DE, Haller MJ, Schatz DA, et al. Type 1 diabetes associated with acquired generalized lipodystrophy and insulin resistance: the effect of long-term leptin therapy. J Clin Endocrinol Metab 2008; 93: 26-31.

https://doi.org/10.1210/jc.2007-1856

Cómo citar
1.
Gutiérrez Restrepo J, Alzate Monsalve C. Síndrome de Berardinelli-Seip: reporte de un caso y revisión de la literatura. Med. Lab. [Internet]. 1 de mayo de 2012 [citado 22 de enero de 2022];18(5-6):253-60. Disponible en: https://medicinaylaboratorio.com/index.php/myl/article/view/289
Publicado
2012-05-01
Sección
Casos clínicos

Artículos más leídos del mismo autor/a