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Year : 2021  |  Volume : 59  |  Issue : 2  |  Page : 205-207

Rarest rare emerging again: A case report of mauriac syndrome

Department of Ophthalmology, Velammal Medical College Hospital and Research Institute, Madurai, Tamil Nadu, India

Date of Submission21-Mar-2020
Date of Acceptance06-May-2020
Date of Web Publication24-Jun-2021

Correspondence Address:
Dr. Elango Vidhya
Department of Ophthalmology, Velammal Medical College Hospital and Research Institute, Ring Road, Anupanadi, Madurai - 625 009, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/tjosr.tjosr_24_20

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This is a case report of a young male with poorly controlled type 1 diabetes mellitus who presented with the clinical features of diabetic ketoacidosis. On examination, he had severe growth retardation, elevated liver enzymes, advanced diabetic eye disease, and other diabetes-related microvascular complications. Along with the other clinical features, the patient was diagnosed as a case of Mauriac syndrome. Mauriac syndrome, initially described by Mauriac in 1930, is one of the causes of growth retardation and elevated liver enzymes in poorly controlled diabetic patients. Patients with poorly controlled type 1 diabetes must be closely observed for sexual maturation and growth. An early intervention with optimal therapy to bring glycemic control combined with a close follow-up would help avoid such late complications.

Keywords: Growth retardation, Mauriac syndrome, type 1 diabetes mellitus

How to cite this article:
Vidhya E, Ilango K, Muthuramalingam S. Rarest rare emerging again: A case report of mauriac syndrome. TNOA J Ophthalmic Sci Res 2021;59:205-7

How to cite this URL:
Vidhya E, Ilango K, Muthuramalingam S. Rarest rare emerging again: A case report of mauriac syndrome. TNOA J Ophthalmic Sci Res [serial online] 2021 [cited 2021 Aug 5];59:205-7. Available from: https://www.tnoajosr.com/text.asp?2021/59/2/205/319251

  Introduction Top

Mauriac syndrome is characterized by dwarfism, obesity, and hepatomegaly in patients with insulin-dependent diabetes mellitus.[1],[2],[3],[4] It is associated with poor control of type 1 diabetes mellitus (T1DM) in adolescents and may present as obesity, hepatomegaly, cushingoid facies, and elevated transaminases. It is often referred to as diabetic dwarfism.[5],[6] It is a rare syndrome first described by Mauriac in 1930.[3] The actual cause is unknown but is probably a combination of factors, including inadequate glucose in the tissues, decreased insulin-like growth factor (IGF)-1 and growth hormone levels, impaired bioactivity of the hormones, a circulating hormone inhibitor, or resistant or defective hormone receptors.[4] It is typically associated with growth failure and delayed pubertal maturation, which should alert a physician over insufficient management of diabetes mellitus and the related development of Mauriac syndrome, although these can be reversed with good glycemic control.

Mauriac syndrome was much more common before long-acting insulin, and knowledge of glycemic control (including monitoring of hemoglobin A1c [HbA1c]) was available and is relatively rare today because of these treatments.

  Case Report Top

A 21-year-old male with an 18-year history of T1DM was admitted with complaints of abdominal pain, vomiting, loose stools, and defective vision in both eyes. The patient was on premixed insulin (30/70) of 0.6 U/kg of body weight per day in two divided doses of 6 U morning and night. He had a history of diabetic treatment only from the age of 10 with poor control of diabetes and no regular follow-ups. There was no history of hypertension or family history of diabetes. Anthropometric data revealed height of 124 cm and body mass index of 13 kg/m2 [Figure 1].
Figure 1: Child of type 1 diabetes and Mauriac syndrome

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Physical examination revealed facial puffiness, pedal edema, pallor, and abdominal distension. Blood pressure was 130/90 mmHg.

On ocular examination, the best-corrected vision was 6/24 in the right eye and 5/60 in the left eye. Fundus examination revealed bilateral advanced diabetic eye disease in both eyes [Figure 2]. He had a history of one dose of intravitreal steroid in both eyes followed by 3 sittings of panretinal photocoagulation.
Figure 2: Fundus picture showing advanced diabetic eye disease

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Laboratory analysis revealed hemoglobin 8.4 g/dl, HbA1c 9.3, blood urea 132 mg/dl, serum creatinine 7.8 mg/dl, total protein 6.7 g/dl, albumin 3.4 g/dl, triglycerides 76 mg/dl, total cholesterol 143 mg/dl, high-density lipoprotein-cholesterol 51 mg/dl and low-density lipoprotein-cholesterol 77 mg/dl, aspartate aminotransferase 18 IU/L (5–45 IU/L), alanine aminotransferase 14 IU/L (5–45 IU/L), and alkaline phosphatase (ALP) 164 IU/dl. Serum sodium was 131 mEq/l and potassium was 5.2 mEq/l, and serum osmolality was 299 moms/kg. Urinary excretion of glucose and protein was present. Ultrasonography revealed minimal ascites and bilateral kidneys showed increased cortical echogenicity with reduced corticomedullary differentiation, suggesting bilateral medical renal disease [Figure 3].
Figure 3: Ultrasound scan of the abdomen showing increased cortical echoes with reduced corticomedullary differentiation of both kidneys

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Our patient presented with uncontrolled diabetes mellitus of 10 years' duration. He had severe growth retardation and diabetes-related microvascular disease (proliferative retinopathy and nephropathy). Based on these findings, a diagnosis of Mauriac syndrome was made.

  Discussion Top

Mauriac syndrome occurs in male and female equally and is most common in adolescence, although there are reports in children as young as toddlers and in adults.[1],[2],[3],[7] It is associated with hepatomegaly and diabetic dwarfism.[2],[7] The actual cause is unknown, but it is probably a combination of factors, including inadequate glucose uptake and utilization in the tissues, decreased IGF-1 and growth hormone levels, impaired bioactivity of these hormones, a circulating hormone inhibitor, resistant or defective hormone receptors, insulin deficiency, poor glycemic control, concurrent autoimmune diseases, decreased caloric intake, and/or eating disorders.[4],[6] Autoimmune diseases that are more common include Addison's disease, autoimmune gastritis, celiac disease, and hypothyroidism.[1] Before treatment with long-acting insulin, delays in growth and sexual maturity were common but generally modest; however, nowadays, with better treatment modalities, this syndrome is rarely seen.[2]

  Conclusion Top

Mauriac syndrome is a rare complication of poorly controlled diabetes mellitus in adolescence, but the treating physician should keep a high index of suspicion for this so that proper growth can be accomplished with timely intervention.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Madhu SV, Jain R, Kant S, Prakash V. Mauriac syndrome: A rare complication of type 1 diabetes mellitus. Indian J Endocrinol Metab 2013;17:764-5.  Back to cited text no. 1
Otto-Buczkowska E, Jainta N. Mauriac syndrome – Is already a history? Clin Diabetol 2017;6:101-4.  Back to cited text no. 2
Gutch M, Philip R, Saran S, Tyagi R, Gupta KK. Re-emergence of a rare syndrome: A case of Mauriac syndrome. Indian J Endocrinol Metab 2013;17:S283-5.  Back to cited text no. 3
Patel JA, Solanki BB, Gupta RR, Dudhagara P. A case report of Mauriac syndrome - Diabetic dwarfs. National Journal of Basic & Applied Sciences. 2015;7:38-40.  Back to cited text no. 4
Dias J, Martins S, Carvalho S, Marques O, Antunes A. Mauriac syndrome still exists. Endocrinol Nutr 2013;60:245-8.  Back to cited text no. 5
Lombardo F, Passanisi S, Gasbarro A, Tuccari G, Ieni A, Salzano G. Hepatomegaly and type 1 diabetes: A clinical case of Mauriac's syndrome. Ital J Pediatr 2019;45:3.  Back to cited text no. 6
Topaloglu O, Sezer SD, Demir B, Akarken D. Mauriac syndrome: Case report and review of the literature. Turk J Endocrinol Metab 2017;21:131-5.  Back to cited text no. 7


  [Figure 1], [Figure 2], [Figure 3]


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