Via Research Recognition Day 2024 VCOM-Carolinas

Clinical Case-Based Reports

Management of Labor in a Patient with Charcot-Marie Tooth Disease: A Case Study 1 Keenan B. Caddell, OMS-III, 1 Jordan Winebrenner, OMS-III, 2 Dr. Oluwamuye F. Akinbote, M.D. 1 Edward Via College of Osteopathic Medicine – Carolinas, Spartanburg, SC; 2 Roper St. Francis Healthcare, Charleston, SC Introduction Case Timeline & Presentation

Discussion

Despite being the most common inherited neuropathy, literature regarding management of pregnancy in CMT patients is lacking. We searched PubMed for articles published in the U.S. within the past decade that contained both “Charcot -Marie- Tooth” and “Pregnancy” and found zero. The resulting non U.S.-based literature was limited to three retrospective studies consisting of cohorts less than 200 each. While one study found higher rates of placenta previa, abnormal presentations, and preterm deliveries in CMT, the remaining studies found no increased complication rates for pregnancy and delivery. In the latter studies, the mode of delivery did not differ significantly from the non CMT population. 2-4

We present the unique case of a pregnant female with Charcot-Marie-Tooth (CMT) disease who expressed significant concerns about her ability to deliver vaginally due to her comorbid condition. A spectrum of rare disorders, CMT is caused by various mutations in genes whose protein products are expressed in myelin, gap junctions, and/or axonal structures in peripheral nerves. 1 Given the rarity of CMT in the general population, it was important to consider both guideline-directed treatment and CMT-specific considerations to provide the patient with safe and feasible options for delivery.

Literature: Pregnancy Outcomes in CMT

Increased Pregnancy Complications

U.S.- Based

CMT Fast Facts

Study

Rudnik-Schöneborn, et al. (2020) ➢ Pregnancy outcome in Charcot-Marie Tooth disease: results of the CMT-NET cohort study in Germany Pisciotta, et al. (2020) ➢ Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry Skorupinska, et al. (2023) ➢ Pregnancy and delivery in patients with Charcot-Marie-Tooth disease and related disorders

Pathology

Epidemiology

Prognosis • Progressive disease • Patients often become wheelchair bound • Not a main cause of mortality; no change in life expectancy

• Affects 1/2500 (more common than ALS or CF) • Equal incidence across races, ethnicities, and sexes

PMP22 duplication on chromosome 17 (CMT1A) ↓ defective myelin production by Schwann cells

↑ placenta previa ↑ fetal malpresentation ↑ preterm delivery

Without a clear understanding of how CMT patients fare in pregnancy, further prospective investigation is warranted with the goal of developing practice guidelines for management of pregnancy in CMT.

CMT Symptomatology

Conclusion

• CMT is the most common inherited neuropathy; patients exhibit a wide array of symptoms. • There is no specific guidance for CMT patients regarding management of labor. • Given the complex and systemic impact of the disease, further investigation of labor outcomes and management in CMT patients is necessary. • Delivery planning for CMT patients should incorporate informed decision making; specific attention should be given to the safe prevention of primary cesarean when possible. 5

• HPI: A 27-year-old G2P0010 presented to the OB/GYN office for routine prenatal visit at 36w3d gestation. In the context of a birth planning discussion, the patient expressed significant concern that she was “not going to be able to dilate” due to her CMT disease, which had not previously been disclosed by the patient.

• MedHx: CMT, GERD, gastroparesis (likely 2/2 CMT), anemia • SurgHx: appendectomy, cholecystectomy, gastric bypass surgery

• Tests Ordered: Fetal Growth US → EFW 53 rd percentile, normal anatomy • Consult: maternal-fetal medicine → “no concerns for labor complications d/t CMT, proceed with trial of labor for vaginal delivery ” • Subsequent Follow-Up: • patient opted to schedule primary cesarean for 39w2d • presented with spontaneous rupture of membranes (SROM) at 39w1d • attempted to labor; primary cesarean performed d/t fetal intolerance • both mother and baby were discharged without complication

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2024 Research Recognition Day