[en] Congenital generalized lipodystrophy is a rare inherited multisystemic disorder associated with disturbances of adipocyte functions. We report a young boy presenting at age 1 month with liver disease and severe hypertrophic cardiomyopathy. Despite this multisystemic involvement and contrasting with a cachectic appearance, the anthropometric parameters showed marked overgrowth (+4 DS), leading to diagnosis of congenital lipodystrophy, which was confirmed by the presence of the new homozygous c.259C>T (p.Gln87*) mutation in the AGPAT2 gene. Early infantile cardiomyopathy should be considered as a specific endophenotype in Berardinelli-Seip Congenital Lipodystrophy syndrome.
Disciplines :
Genetics & genetic processes
Author, co-author :
Debray, François-Guillaume ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Maladies métaboliques d'origine génétique
Baguette, Christel
Colinet, Stephanie
Van Maldergem, Lionel
Verellen-Dumouin, Christine
Language :
English
Title :
Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy.
Publication date :
2013
Journal title :
Molecular Genetics and Metabolism
ISSN :
1096-7192
eISSN :
1096-7206
Publisher :
Elsevier, Atlanta, Georgia
Volume :
109
Issue :
2
Pages :
227-9
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
Copyright (c) 2013 Elsevier Inc. All rights reserved.
Van Maldergem L. Berardinelli-Seip congenital lipodystrophy. GeneReviews 2003, University of Washington, Seattle, (WA), (updated 2012 Jun 28, http://www.ncbi.nlm.nih.gov/books/NBK1212/). R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.).
Van Maldergem L., Magré J., Khallouf T.E., Gedde-Dahl T., Delépine M., Trygstad O., Seemanova E., Stephenson T., Albott C.S., Bonnici F., Panz V.R., Medina J.-L., Bogalho P., Huet F., Savasta S., Verloes A., Robert J.-J., Loret H., de Kerdanet M., Tubiana-Rufi N., Mégarbané A., Maassen J., Polak M., Lacombe D., Kahn C.R., Silveira E.L., D'Abronzo F.H., Grigorescu F., Lathrop M., Capeau J., O'Rahilly S. Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. J. Med. Genet. 2002, 39:722-733.
Agarwal A.K., Simha V., Oral E.A., Moran S.A., Gorden P., O'Rahilly S., Zaidi Z., Gurakan F., Arslanian S.A., Klar A., Ricker A., White N.H., Bindl L., Herbst K., Kennel K., Patel S.B., Al-Gazali L., Garg A. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J. Clin. Endocrinol. Metab. 2003, 88:4840-4847.
Bjornstad P.G., Foerster A., Ihlen H. Cardiac findings in generalized lipodystrophy. Acta Pediatr. Suppl. 1996, 413:39-43.
Rheuban K.S., Blizzard R.M., Parker M., Carter T., Wilson T., Gutgesell H.P. Hypertrophic cardiomyopathy in total lipodystrophy. J. Pediatr. 1986, 109:301-302.
Bhayana V.M., Joubert S.I., Clarson C.L., Cao H., Hegele R.A. Cardiomyopathy in congenital complete lipodystrophy. Clin. Genet. 2002, 61:283-287.
Friguls B., Coroleu W., del Alcazar R., Hilbert P., Van Maldergem L., Pintos-Morell G. Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. Eur. J. Med. Genet. 2009, 52:14-16.
Miranda D.M., Wajchenberg B.L., Calsolari M.R., Aguiar M.J., Silva J.M.C.L., Ribeiro M.G., Fonseca C., Amaral D., Boson W.L., Resend B.A., De Marco L. Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. Clin. Endocrinol. 2009, 71:512-517.
Ben Turika H., Tebib N., Azzouz H., Abdelmoula M.S., Ben Chehida A., Hubert P., Douira W., Ben Dridi M.F. Congenital generalized lipodystrophy: a case report with neurological involvement. Arch. Pediatr. 2009, 16:27-31.
Lupsa B.C., Sachdev V., Lungu A.O., Rosing D.R., Gorden P. Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical, assessment. Medecin (Baltimore) 2010, 89:245-250.
Ebihara K., Kusakabe T., Hirata M., Masuzaki H., Miyanaga F., Kobayashi N., Tanaka T., Chusho H., Miyazawa T., Hayashi T., Hosada K., Ogawa Y., DePaoli A.M., Fukushima M., Nakao K. Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy. J. Clin. Endocrinol. Metab. 2007, 92:532-541.
