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 Table of Contents  
CASE REPORT
Year : 2014  |  Volume : 1  |  Issue : 4  |  Page : 247-249

Mauriac syndrome: A preventable complication of type 1 diabetes mellitus


1 Department of Pediatrics, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India
2 Department of Physiology, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India

Date of Submission26-Aug-2014
Date of Decision14-Oct-2014
Date of Acceptance17-Nov-2014
Date of Web Publication11-Dec-2014

Correspondence Address:
Bhardwaj Parveen
Department of Pediatrics, Indira Gandhi Medical College, Shimla, Himachal Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2347-9906.146805

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  Abstract 

Type 1 diabetes mellitus (T1DM) is a common pediatric endocrine condition and Mauriac syndrome (MS) is described as one of the manifestation of poorly controlled diabetes. It manifests as hepatomegaly, growth delay, elevated liver enzymes, and serum lipids and glycogen accumulation in hepatocytes. We report a 7-year-old child of MS with poorly controlled T1DM. With appropriate management, the patient showed improvement symptomatically and in liver size. The fasting blood sugar and triglycerides showed a reduction.

Keywords: Growth delay, hepatomegaly, Mauriac syndrome, poor glycemic control, type 1 diabetes


How to cite this article:
Vijay Y, Minoo S, Parveen B. Mauriac syndrome: A preventable complication of type 1 diabetes mellitus . J Obes Metab Res 2014;1:247-9

How to cite this URL:
Vijay Y, Minoo S, Parveen B. Mauriac syndrome: A preventable complication of type 1 diabetes mellitus . J Obes Metab Res [serial online] 2014 [cited 2019 Mar 25];1:247-9. Available from: http://www.jomrjournal.org/text.asp?2014/1/4/247/146805


  Introduction Top


Mauriac syndrome (MS) is a rare complication of type 1 diabetes mellitus (T1DM), characterized by hepatomegaly (hepatic glycogenosis), puberty and growth delay, dyslipidemia, transaminase elevation and reduction of insulin-like growth factor-1 (IGF-1). [1] Other clinical features include abdominal protuberance, proximal muscle wasting and moon face. MS is related to underinsulinization; it is much less common since longer-acting insulins have become available. [2] The cause of growth failure in MS has remained obscure, although it is presumably related to the poor metabolic control of diabetes. [3] MS is more common in children and adolescents with poor glycemic control and increases susceptibility of diabetic complications like diabetic retinopathy. [1] It is the most common cause of hepatic dys-function in children and adolescents with diabetes mellitus 1. [4] Therefore it is imperative to keep the possibility of MS in mind while managing patients with type 1 diabetes as early diagnosis and management reduces the metabolic impact of this disease. We hereby report a case of T1DM associated with MS.


  Case report Top


A 7-year-old boy, who was a known case of T1DM for the past 4 years was admitted with chief complaints of abdominal pain, vomiting, rapid breathing and polydipsia and also had a history of abdominal distension for the past 6 months. He was diagnosed with T1DM at the age of 3 years and had 4 episodes of severe diabetic ketoacidosis (DKA). He was on insulin mixtard (30% short acting, 70% NPH) at a dose of 1.4 u/kg/day. His family history was noncontributory. He was immunized as per age. His anthropometry was suggestive of a short stature with the height of 104 cm (< -3 standard deviation (SD) for age and gender) and the weight of 25 kg (between median and + 1 SD for age and gender). On abdominal examination he had a massive non tender and firm hepatomegaly with a span of 13 cm and had chubby cheeks with cushingoid features [Figure 1].
Figure 1. Index case of mauriac syndrome with chubby cheeks

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He had features of severe DKA. His random blood sugar was 530 mg/dl and arterial blood gases were suggestive of severe metabolic acidosis (pH - 7.01, pCO 2 -17 mm of Hg, HCO 3 -8 meq/l, base excess - 23 mmol/l). Other laboratory parameters electrolytes, kidney function tests were normal. Serum calcium was 5.7 mg% phosphorus 3.2 mg% and Vitamin D level were 4.8 ng/ml (by radio-immuno assay), His liver functions revealed serum glutamic oxaloacetic transaminase- 232 U/L (normal: 5-45 U/L) and serum glutamate pyruvate transaminase- 301 U/L (normal: 5-45 U/L) and serum bilirubin, serum albumin, prothrombin time and alkaline phosphate were normal. His lipid profile revealed total cholesterol - 374 mg/dl (125-189), triglycerides - 943 mg/dl (28-85), low-density lipoprotein - 121 mg/dl (63-129), high-density lipoprotein - 23 mg/dl (38-74). Uric acid was normal. Erythrocyte sedimentation rate was 55 mm at 1 h. Complete blood count was normal for his age. Ultrasonography abdomen revealed enlarged liver measuring 15.5 cm with normal echotexture, the spleen and kidneys were normal. Thyroid functions were normal and IgA, Anti-tTG and anti-endomysium for celiac disease were normal. The evaluation for viral hepatitis, autoimmune hepatitis and metabolic liver disease was negative. Fundus examination was normal. Urinary albumin excretion rate was 110 μg/min (normal <20 μg/min). His glycosylated (HBA 1 c) hemoglobin was 13.5% (normal: 4.2-6.4%). Liver biopsy revealed distended glycogen-laded hepatocytes and there was no steatosis, fibrosis or inflammation as shown in [Figure 2]. IGF-1 level by radioimmunoassay method was 54 ng/ml (normal range: 193-691 ng/ml). On the basis of clinical features of short stature, Cushingoid features, massive hepatomegaly, increased liver enzymes, hyperlipidemia, glycogen-laden hepatocytes and poorly controlled diabetes, the diagnosis of MS was made.

Diabetic ketoacidosis was managed with Milwaukee regimen [2] and he improved within 20 h. The patient was then shifted to a strict dietary management and with a high dose premixed insulin, high dose calcium, vitamin D 3 and multivitamin. After 2 months of therapy, patient improved symptomatically, premeal sugar came down to 100-150 mg/dl and there was decrease in liver size. Lipid profile was showing decreasing trend, his cholesterol and triglycerides were 224 and 572 mg/dl respectively. His IGF-1 was 108 ng/ml.
Figure 2. Periodic acid Schiff staining positive and distended hepatocytes

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  Discussion Top


Mauriac syndrome was first described by Mauriac in 1930 in children with T1DM presenting with clinical features of growth failure, maturation delay, hepatomegaly and abdominal distension. [5] These patients also have elevated liver enzymes, dys-lipidemia, cushingoid features and delayed growth or sexual maturation. Based on these features MS can be diagnosed. [4] The pathogenesis of MS is not clear but thought to be multifactorial. The features of MS are mostly related with fluctuating levels of glucose and insulin with both periods of underinsulinization and overinsulinization contributing to the presentation. Inadequate glucose to the tissues, decreased IGF-1, GH levels, hypercortisolism, and resistant or defective hormone receptor action contribute to stunted growth and delayed puberty. The periods of supraphysiological levels of insulin is associated with glycogen deposition in the liver leading to hepatomegaly. [6],[7] Blood glucose passively enters the hepatocytes in which glycogen synthesis is promoted by high cytoplasmic glucose concentration reliant on the presence of insulin. Glycogen is then trapped within the hepatocytes as a result of a vicious cycle of hyperglycemia and insulin treatment. [8] Poor glycemic control due to hypoinsulinemia leads to lipolysis and ketone liberation. Ketosis activates cortisol synthesis promoting the release of fatty acids and hyperglycemia. [9] Liver biopsy is helpful to confirm the diagnosis of MS. Histologic features are characterized by large, swollen, glycogen-laden hepatocytes and glycogenated nuclei without significant fatty change, inflammation, lobular spotty necrosis or fibrosis. [10] The high index of suspicion of MS should be kept in a child with poorly controlled diabetes with hepatomegaly, elevated transaminase, dys-lipidemia growth delay and Cushingoid features. Good metabolic control leads to improvement in liver function tests and dys-lipidemia.

 
  References Top

1.
Maia FF, Araújo LR. Pancreas transplantation in Mauriac Syndrome: Clinical and biochemical parameters after one year follow up. Arq Bras Endocrinol Metabol 2005;49:455-9.  Back to cited text no. 1
    
2.
Alemzadeh R, Ali O. Diabetes mellitus. In: Kliegman RM, Stanton BF, Schor NF, Geme JW, Behrman RE, editors. Nelson Textbook of Pediatrics. 19 th ed. Philadelphia: Elsevier; 2012. p. 1968-97.  Back to cited text no. 2
    
3.
Jackson RL, Kelly HG. Growth of children with diabetes mellitus in relationship to level of control of the disease. J Pediatr 1946;29:316-28.  Back to cited text no. 3
    
4.
Flotats Bastardas M, Miserachs Barba M, Ricart Cumeras A, Clemente León M, Gussinyer Canadell M, Yeste Fernández D, et al.Hepatomegaly due to glycogen storage disease and type 1 diabetes mellitus. An Pediatr (Barc) 2007;67:157-60.  Back to cited text no. 4
    
5.
Mauriac P. Big belly, hepatomegaly, growth disorders in children with diabetes traits several years since insulin Gaz Hebd Med Bordeau×1930;26:402-10.(Article in French)  Back to cited text no. 5
    
6.
Lee RG, Bode HH. Stunted growth and hepatomegaly in diabetes mellitus. J Pediatr 1977;91:82-4.  Back to cited text no. 6
    
7.
Ferry Robert J Jr, editor. In: Management of Pediatric Obesity and Diabetes. New York city: Humana Press; 2011. p. 383-5.  Back to cited text no. 7
    
8.
Torbenson M, Chen YY, Brunt E, Cummings OW, Gottfried M, Jakate S, et al. Glycogenic hepatopathy: An underrecognized hepatic complication of diabetes mellitus. Am J Surg Pathol 2006;30:508-13.  Back to cited text no. 8
    
9.
Pigui A, Montembault S, Bonte E, Hardin JM, Ink O. Voluminous hepatomegaly in a young diabetic patient. Gastroenterol Clin Biol 2003;27:1038-40.  Back to cited text no. 9
    
10.
Torbenson M, Chen YY, Brunt E, Cummings OW, Gottfried M, Jakate S, et al. Glycogenic hepatopathy: An underrecognized hepatic complication of diabetes mellitus. Am J Surg Pathol 2006;30:508-13.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2]


This article has been cited by
1 Revisit of a rare complication of type 1 diabetes mellitus: Mauriac syndrome
Umang G Thakkar,Aruna V Vanikar,Hargovind L Trivedi
Practical Diabetes. 2017; 34(4): 132
[Pubmed] | [DOI]



 

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