Cláudia Constantino1, João Farela Neves1, Raquel Marta1, Gabriela Pereira1, Deolinda Barata1, Lurdes Lopes2
1 Unid. Cuidados Intensivos, Hospital Dona Estefânia, CHLisboa Central
2 Unid. Endocrinologia, Hospital Dona Estefânia, CHLisboa Central
RESUMO
Introdução: A diabetes mellitus tipo 1 (DM1) é uma doença metabólica crónica cuja incidência anual tem vindo a aumentar. Pode cursar com alterações sistémicas, como a hepatomegalia e o atraso de crescimento, decorrentes de controlo glicémico inadequado.
Caso clínico: Adolescente de 14 anos com o diagnóstico de DM1 desde os três anos de idade e com mau controlo glicémico, internada numa Unidade de Cuidados Intensivos por cetoacidose grave. Do exame objectivo destacavamse baixa estatura, hepatomegalia não dolorosa e estadio pubertário P1, M2 de Tanner. Analiticamente apresentava aumento das transaminases, hipercolestorolemia e hipertrigliceridemia.
]]> Discussão: A síndrome de Mauriac, caracteriza-se por: DM tipo 1 mal controlada, baixa estatura, atraso pubertário, hipercolesterolémia, aumento das transaminases e hepatomegalia por depósito hepático de glicogénio.O mecanismo fisiopatológico não está totalmente esclarecido, sendo provavelmente a combinação de vários factores etiológicos.
É uma situação rara, cujo diagnóstico, essencialmente clínico, assume extrema importância dada a reversibilidade do quadro com a optimização terapêutica.
Palavras-chave: Diabetes mellitus tipo1, síndrome de Mauriac, hepatomegalia, atraso pubertário.
Mauriac Syndrome, Uncommon Presentation of a Common Disease
ABSTRACT
Introduction: Type 1 diabetes mellitus is a chronic metabolic disease whith increasing incidence. It has different kinds of manifestations, such as systemic disturbances like hepatomegaly and dwarfism, caused by poor glycemic control.
Case presentation:A 14 yea-old girl with type 1 diabetes mellitus since she was three, with a poor glycemic control, admitted in an Intensive care Unit for severe ketoacidosis.
On examination she had short stature, a non painful hepatomegaly and Tanner stage P1 M2. Laboratory data showed increased transaminases, cholesterol and tryglicerides.
]]> Discussion: Mauriac syndrome is characterized by poorly controlled type 1 diabetes mellitus, growth failure, delayed puberty, hypercholesterolemia, high levels of transaminases and hepatomegaly due to hepatic glycogen storage.The physiological mechanism is not completely understood, and this is due to a probably combination of various etiological factors.
It is a rare clinical entity. The diagnosis, that is mostly clinical based, is very important because this is a reversible condition with optimization of insulin therapy.
Keywords: Type 1 Diabetes mellitus, Mauriac Syndrome, hepatomegaly, delayed puberty.
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BIBLIOGRAFIA
1. Craig ME, Hattersley A, Donaghue KC; Definition, epidemiology and classification of diabetes in children and adolescents, ISPAD Clinical Practice Consensus guidelines 2009 compendium; Pediatric Diabetes 2009: 10 (suppl.12); 3-12. [ Links ]
2. Patterson C, Dahlquist G, Gyürüs Eva, Green Anders, Soltész Gyula, EURODIAB Study Group, Incidence trends for childhood type 1 diabetes in Europe during 1989-2003 and predicted new cases 2005-20: a multicentre prospective registration study, Lancet 2009; 373: 2027-33.
3. Maia F, Araújo L, Síndrome de Mauriac: forma rara de diabetes Mellitus tipo1, Arq Bras Endocrinol Metab 2002; 46: 310-5.
4. Froissart R, Maire I, Glycogenosis type I or von Gierke’s disease, Orphanet encyclopedia, April 2002.
5. Limbert C; Doenças da Tiroideia; in: Amaral JMV, Tratado de Clínica Pediátrica; 1ª edição, Lisboa, 2008, II: 825-8.
6. Mauriac P. Gros ventre, hepatomegalie, troubles de las croissance chez les enfants diabetiques traits depuis plusieurs annes par l’insuline. Gax Hebd Med Bordeaux. 1930; 26: 402-10.
7. Franzese A, Iorio R, Buono P, Mascolo M, Mozzillo E, Mauriac syndrome still exists, Letter to the editor, Diabetes Res Clin Prac 2001; 54: 219-21.
8. Bastardas M F; Barba M; Cumeras R; León M C; Canadell M Gussinyer; Fernández D Yeste; Aparicio MA Albisu; Lezcano A Carrascosa.; Hepatomegalia por deposito de glucogeneo hepatico y diabetes mellitus tipo1; An Pediatr (barc) 2007; 67(2): 157-60.
9. Enver Þümbek, Kenan Kocabay, Insulin-Like Growth Factor in Mauriac Syndrome or Diabetic Dwarfi sm, Turk J Med Sci 2002; 32: 421-4.
10. Shailendra B Patel, Srividya Kidambi, Effect of Diabetes Mellitus on Cholesterol Metabolism, study is currently recruiting participants. Verified by Medical College of Wisconsin, April 2009.
11. Torbenson M, Chen Yunn-Yi, Brunt E, Cummings O W, Gottfried M, Jakate S et al, Glycogenic Hepatopathy, An Underrecognized Hepatic Complication of Diabetes Mellitus; Am J Surg Pathol 2006;30:508-13.
]]> 12. Chiou A, Cadez R, Böhnke M; Elevation of serum IGF-1 precedes proliferative diabetic retinopathy in Mauriac’s syndrome, Br J Ophthalmol 1997; 81:168-73.13. Cummings E A, Sochette E B, Dekker M G, Lawson M L, Daneman D, Contribution of growth hormone and IGF-I to early diabetic nephropathy in type 1 diabetes, Diabetes 1998; 47: 1341-6.
Cláudia Constantino
Departamento de Pediatria Médica, Hospital Dona Estefânia,
CHLisboa Central, EPE
Rua Jacinta Marto
1169 -045 Lisboa
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