ABSTRACT
Thyroid storm is a life-threatening endocrine emergency that warrants early clinical recognition and aggressive intervention. We present a 64-year-old female with no known history of thyroid disease, who presented to her primary care physician with dyspnea on exertion and was found to have an anterior mediastinal mass. She had elective thymectomy. Pathology confirmed thymic lymphoepithelial carcinoma. Postoperatively, she developed altered mental status, fever, and atrial fibrillation with marked elevation of thyroid hormones, consistent with thyroid storm. She decompensated rapidly and was treated aggressively with standard therapies for thyroid storm, including beta-blockers, methimazole, cholestyramine, steroids, and iodine, with poor response. The patient eventually underwent 4 sessions of therapeutic plasma exchange (TPE) with marked improvement in her symptoms. This case reports a possible association between thymic lymphoepithelial carcinoma and Graves disease and highlights the utility of TPE in cases of severe thyroid storm that are refractory to traditional treatments. We learn from this case that evaluating thyroid function tests in patients with thymic or mediastinal masses before surgery might be helpful. TPE should be considered in patients with thyroid storm refractory to traditional therapies.
ABSTRACT
There is a well-established association between hyperglycemia and severe coronavirus disease 2019 (COVID-19) infection, regardless of the diagnosis of diabetes prior to the infection. However, it is unusual for patients with a mild infection to present with severe hyperglycemia and insulin resistance requiring intravenous insulin therapy. Uncontrolled hyperglycemia is associated with worse outcomes in COVID-19, making it crucial to achieve optimal glycemic control, which occasionally requires IV insulin therapy. We report a patient with type 1 diabetes mellitus (T1DM), on hemodialysis, who presented with diabetic ketoacidosis (DKA) due to non-adherence to insulin. He was found to be incidentally positive for COVID-19 on admission. Although he was asymptomatic and did not require steroids for the treatment of COVID-19, he was noted to have persistent severe hyperglycemia requiring unusually high levels of intravenous insulin. This proposes that even a mild infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection can trigger a systemic response that can lead to downstream manifestations including insulin resistance and severe hyperglycemia. Interestingly, our patient had three admissions within the past six months as well as another admission two weeks after the current presentation with DKA secondary to insulin non-compliance, all of which required IV insulin for <24 hours following which he was transitioned to a basal-bolus insulin regimen with well-controlled glucose levels.
ABSTRACT
Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in families from different ethnic origins and backgrounds. We present the first cohort of family members of Nigerian descent with a novel heterozygous p.L272R variant on the GARS gene. We postulate that this variant is the cause of dHMN-V in this family, leading to variable phenotypical expressions that are earlier than reported in previous cases. The exact cause for the observed clinical heterogeneity within the family is unknown. One explanation is that there are modifier genes that affect the phenotype. These cases highlight the possibility of considering pathogenic variants in the GARS gene as a potential cause of early onset axonal polyneuropathy with atypical presentation.