scholarly journals Elevated lactate in Mauriac syndrome: still a mystery

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Brice Touilloux ◽  
Henri Lu ◽  
Belinda Campos-Xavier ◽  
Andrea Superti-Furga ◽  
Michael Hauschild ◽  
...  
Keyword(s):  
Glucose Utilization ◽  
Diabetes Mellitus Type 1 ◽  
Glycogen Storage ◽  
Insulin Regimen ◽  
Case Presentation ◽  
Stunted Growth ◽  
Glycogen Storage Diseases ◽  
Mauriac Syndrome ◽  
Elevated Lactate

Abstract Background The Mauriac syndrome was described in 1930 as a peculiar combination of poorly controlled diabetes mellitus type 1, stunted growth and glycogenic hepatopathy. More recently, lactic acidosis was recognized as an additional feature, often induced by insulin treatment. Case presentation A 17-year old girl known for diabetes type 1A and Mauriac syndrome was admitted to the emergency room with hyperglycemia of > 41 mmol/l without ketoacidosis. Under a standard insulin regimen, hyperglycemia was rapidly corrected but marked hyperlactatemia occurred. Conclusions The mechanism of impaired glucose utilization and lactate elevation independent of ketoacidosis in Mauriac syndrome is intriguing. The rarity of Mauriac syndrome and its resemblance to glycogen storage diseases suggest the presence of a specific metabolic or genetic predisposition that remains to be identified.

scholarly journals Reversible severe glycogenic hepatopathy in type 1 diabetes

2021 ◽  
Author(s):  
Jan de Laffolie ◽  
Clemens Kamrath ◽  
Diana Burchert ◽  
Claudia Böttcher ◽  
Stefan Alexander Wudy ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Liver Enzymes ◽  
Insulin Pump ◽  
Glycogen Storage ◽  
Diabetic Patients ◽  
Potential Complication ◽  
Case Presentation ◽  
Mauriac Syndrome ◽  
Juvenile Diabetic

Summary Case presentation We report a case of severe glycogenic hepatopathy in a 17-year-old boy with poorly controlled type 1 diabetes. On presentation, major findings included unexplained pronounced hepatomegaly and increased liver enzymes, ferritin, and triglycerides. Histology and electron microscopy evaluation showed severe glycogen storage, steatosis, and signs of fibrosis, resembling the histomorphological findings of Mauriac syndrome. After information about the nature of the disease and intensification of insulin therapy with insulin pump, liver enzymes, ferritin, and triglycerides normalized within 1 month. Conclusion Glycogenic hepatopathy is a rare but important potential complication in poorly controlled juvenile diabetic patients. With improved metabolic control, it is fully reversible.

scholarly journals Old syndrome–new approach: Mauriac syndrome treated with continuous insulin delivery

2018 ◽  
Vol 6 ◽  
pp. 2050313X1878551 ◽  
Author(s):  
Mirjana Kocova ◽  
Liljana Milenkova
Keyword(s):  
Clinical Presentation ◽  
Glucose Monitoring ◽  
Insulin Delivery ◽  
Diabetes Mellitus Type 1 ◽  
Delayed Puberty ◽  
Growth Delay ◽  
New Approach ◽  
Mauriac Syndrome

Mauriac syndrome has rarely been reported in children and adolescents with a poorly controlled diabetes mellitus type 1. However, it still occurs despite the worldwide improvements of metabolic control. The risks have not been elucidated. We present a 13.5-year-old boy with a typical clinical presentation of Mauriac syndrome consisting of growth delay, cushingoid appearance, hepatomegaly, and delayed puberty. A stepwise correction of glycemic control was introduced using continuous insulin delivery. All symptoms improved during the 2.5-year follow-up. No retinopathy occurred. This patient with Mauriac syndrome followed with continuous glucose monitoring and treated with continuous insulin delivery, resulting in no retinopathy after 2.5 years of follow-up. We suggest that this approach should be recommended in patients with Mauriac syndrome.

scholarly journals Presentación de un caso de síndrome de Mauriac

2017 ◽  
Vol 3 (3) ◽  
pp. 26-32
Author(s):  
Yessica Agudelo Zapata ◽  
Camilo Andrés Quintero Cadavid ◽  
Héctor Fabio Sandoval Alzate ◽  
Luis Miguel Maldonado ◽  
Roberto Franco Vega
Keyword(s):  
Diabetes Mellitus ◽  
Laboratory Tests ◽  
Rare Complication ◽  
Diabetes Mellitus Type 1 ◽  
Type I ◽  
Mucopolysaccharidosis Type I ◽  
Mauriac Syndrome ◽  
Key Issues ◽  
Rule Out

Se presenta un paciente con diabetes mellitus tipo 1, con una complicación poco frecuente conocida como síndrome de Mauriac. Se realizan ayudas diagnósticas tendientes a descartar diagnósticos diferenciales como la mucopolisacaridosis tipo I, que se consideró una de las enfermedades de depósito más probables en el caso del paciente. Finalmente, se presenta una discusión del caso, resumiendo los aspectos fundamentales que llevaron a la sospecha del síndrome de Mauriac. Abstract This is a case report of a patient with diabetes mellitus type 1 and a rare complication known as Mauriac syndrome. Laboratory tests were performed to rule out differential diagnoses, such as mucopolysaccharidosis type I, which was considered one of the storage diseases, most likely for the patient. Finally, we present a discussion of the case, summarizing the key issues that led to the suspicion of a Mauriac syndrome.

Diabetic euglycemic ketoacidosis in newly diagnosed type 1 diabetes mellitus during Ramadan fasting

2015 ◽  
Vol 28 (3-4) ◽  
Author(s):  
Veysel Nijat Baş ◽  
Salih Uytun ◽  
Yasemin Altuner Torun
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Glycogen Storage ◽  
Diabetic Patients ◽  
Newly Diagnosed ◽  
Ramadan Fasting ◽  
Glucose Levels ◽  
Glycogen Storage Diseases

AbstractReal euglycemic diabetic ketoacidosis [DKA; blood glucose <200 mg/dL (11.1 mmol/L)] is rare, and long-lasting starvation conditions due to intervening diseases in type 1 diabetes mellitus patients may also cause it. Euglycemic DKA is also reported in insulin-dependent diabetics with depression, alcoholics, glycogen storage diseases, and chronic liver disease apart from pregnant cases. This case report is presented to emphasize the importance of evaluation of acid-base state, urine glucose, and ketone values at the application in all newly diagnosed type 1 diabetic patients with normal glucose levels by defining euglycemic DKA that resulted from long-lasting starvation during Ramadan fasting in a newly diagnosed 14-year-old male patient.

scholarly journals A 21-Year-Old Woman with Hepatomegaly

2015 ◽  
Vol 10 (3) ◽  
Author(s):  
Caroline R. Barry MD ◽  
Amr M. Zaki MD ◽  
Vicki Munro MD ◽  
Glenn Patriquin MD MSc ◽  
Weei-Yuarn Huang MD ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Glycemic Control ◽  
Liver Enzymes ◽  
Diabetes Mellitus Type 1 ◽  
Insulin Regimen ◽  
Uncontrolled Diabetes ◽  
Elevated Liver Enzymes ◽  
Common Causes

We report the case of a 21-year old woman with uncontrolled diabetes mellitus type 1 presenting with tender hepatomegaly and mildy elevated liver enzymes, with negative investigations for common causes. She was diagnosed by liver biopsy with glycogenic hepatopathy, an uncommon and likely under-recognized complication of poor glycemic control. The disease is typically reversible after weeks to months of appropriate insulin therapy and is unlikely to lead to permanent liver disease. Our patient was treated with a new insulin regimen and analgesics and discharged home. Unfortunately, on follow-up imaging in our patient 10 months later, her hepatomegaly persists. Her glycemic control remains unchanged and she has since been admitted to hospital twice for episodes of diabetic ketoacidosis.

scholarly journals Renal Calculi as Initial Presenting Symptom of Glycogen Storage Disease (Type 1 A) in Early Infancy

2020 ◽  
Vol 10 (01) ◽  
pp. e45-e47
Author(s):  
Nida Mirza ◽  
Smita Malhotra ◽  
Anupam Sibal
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Case Reports ◽  
Glycogen Synthesis ◽  
Renal Stones ◽  
Renal Calculi ◽  
Glycogen Storage ◽  
Storage Diseases ◽  
Glycogen Storage Diseases

AbstractGlycogen storage diseases are a group of heterogeneous metabolic disorders that result from a defect in enzymatic pathway of either glycogen synthesis or glycogen degradation. Here we are reporting a case of glycogen storage diseases type 1 with renal stone as initial manifestation of disease at 2 months of age. There were case reports of recurrent renal calculi in older age group with this disease and considered to be arisen due to metabolic derangements. Although the exact mechanism of renal stones in glycogen storage disease is not clear, in this unique case occurrence of renal stones at 2 months of age suggests that the pathogenesis of renal calculi is probably multifactorial or a part of disease.

scholarly journals Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases

Nutrients ◽  
2021 ◽  
Vol 13 (9) ◽  
pp. 2987
Author(s):  
Jésica Tamara Jacoby ◽  
Bruna Bento dos Santos ◽  
Tatiele Nalin ◽  
Karina Colonetti ◽  
Lília Farret Refosco ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Vitamin D ◽  
Metabolic Control ◽  
Glycogen Storage ◽  
Hepatic Glycogen ◽  
Mineral Density ◽  
Storage Diseases ◽  
Glycogen Storage Diseases ◽  
25 Oh Vitamin D

The association between bone mineral density (BMD) and hepatic glycogen storage diseases (GSDs) is still unclear. To evaluate the BMD of patients with GSD I, IIIa and IXα, a cross-sectional study was performed, including 23 patients (GSD Ia = 13, Ib = 5, IIIa = 2 and IXα = 3; median age = 11.9 years; IQ = 10.9–20.1) who underwent a dual-energy X-ray absorptiometry (DXA). Osteocalcin (OC, n = 18), procollagen type 1 N-terminal propeptide (P1NP, n = 19), collagen type 1 C-terminal telopeptide (CTX, n = 18) and 25-OH Vitamin D (n = 23) were also measured. The participants completed a 3-day food diary (n = 20). Low BMD was defined as a Z-score ≤ −2.0. All participants were receiving uncooked cornstarch (median dosage = 6.3 g/kg/day) at inclusion, and 11 (47.8%) presented good metabolic control. Three (13%) patients (GSD Ia = 1, with poor metabolic control; IIIa = 2, both with high CPK levels) had a BMD ≤ −2.0. CTX, OC and P1NP correlated negatively with body weight and age. 25-OH Vitamin D concentration was decreased in seven (30.4%) patients. Our data suggest that patients with hepatic GSDs may have low BMD, especially in the presence of muscular involvement and poor metabolic control. Systematic nutritional monitoring of these patients is essential.

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