Abstract | November 17, 2023

Trauma Management in 20-Year-Old Female with Mauriac Disease

Tanuj Mahendru, BGS, Medical Student, Texas Tech University Health Sciences Center School Of Medicine, Lubbock, TX

Dr. Alan Pang, MD, Surgery Critical Care Fellow & Clinical Instructor/Department of Surgery, Texas Tech University Health Sciences Center, Lubbock, Texas; Dr. Robyn Richmond, MD, Associate Professor of Surgery/Department of Surgery, Texas Tech University Health Sciences Center, Lubbock, Texas

Learning Objectives

  1. Upon completion of this lecture, the audience should comprehend the association between improper management of Type 1 Diabetes (T1DM) and permanent patient health costs
  2. Upon completion of this lecture, the audience should understand how high energy trauma mechanism superimposed on Mauriac Disease can complicate treatment plans

INTRODUCTION:
Mauriac Disease, also known as diabetic dwarfism, is a rare metabolic condition involving Type 1 Diabetes. While the exact pathophysiology is unknown, metabolic dysfunction in these patients causes an increase in glycogen deposition in hepatocytes. Due to inappropriate glycemic control and transport dysfunction, this causes hepatomegaly, hypercholesterolemia, transaminitis, and lactic acidosis.

CASE PRESENTATION:
A 20-year-old female with a past medical history of T1DM was brought to the ED after an MVA. She presented with tenderness in the right shoulder and sternum, and protuberant abdomen. The patient underwent an UGI series which showed no visible contrast extravasation. Bloodwork showed continuous elevation in lactate levels, high AST and ALT, and hypercholesterolemia. Physical exam of the abdomen was normal, with no tenderness or guarding, and was found to be hemodynamically stable. CT read as extraluminal air not consistent with exam. Small bowel follow through confirmed gastric diverticulum.

FINAL/WORKING DIAGNOSIS:
When T1DM is improperly managed, this can lead to permanent health consequences like Mauriac Disease. The diagnostic criteria for this include poor control of T1DM and severe hepatomegaly. Patients tend to be of short stature with delayed development. This diagnosis created complexities in treatment given the complications of having trauma superimposed on Mauriac Disease. The exact pathophysiology of Mauriac Disease is still unknown, hence why this rare condition is diagnosed by poorly controlled T1DM and severe hepatomegaly.

MANAGEMENT/OUTCOME:
The patient was admitted for overnight observation, with monitoring of lactate levels and frequent abdominal examinations. She was administered IV fluids and Zosyn. She was given inpatient education on managing T1DM and was discharged the following day with instructions to return to the ED if experiencing PO intolerance, fever, or abdominal pain. This case illustrates the importance of T1DM education in rural populations, especially to avoid health costs. This case was complex due to presence of a gastric diverticulum, which appeared to be a pneumoperitoneum, with elevated lactic acidosis in a blunt trauma mechanism where the clinical exam was unremarkable. It emphasizes how improper management of T1DM can lead to irreversible health consequences and hospitalization for diabetic ketoacidosis.

References and Resources

  1. https://www.ruralhealthresearch.org/projects/811
  2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830333/
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6041848/
  4. https://emedicine.medscape.com/article/919999-guidelines#:~:text=The%20majority%20of%20children%20with,to%206%2D10%20times%20daily
  5. https://ijponline.biomedcentral.com/articles/10.1186/s13052-018-0598-2#:~:text=Mauriac’s%20syndrome%20is%20a%20rare,diabetes%20treatment%2C%20but%20still%20exists.
  6. https://pubmed.ncbi.nlm.nih.gov/31559328/
  7. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346977/
  8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059912/
  9. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8379780
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