Abstract Primary thyroid lymphoma (PTL) is a rare thyroid malignancy that may present with respiratory symptoms overlapping with cardiopulmonary disease, contributing to delayed diagnosis. We report a 78-year-old woman with chronic lymphocytic thyroiditis, chronic obstructive pulmonary disease, heart failure, and prior lung cancer whose worsening dyspnea was repeatedly attributed to underlying cardiopulmonary conditions. She subsequently developed dysphonia and dysphagia with a rapidly enlarging thyroid mass requiring tracheostomy for airway protection. Prior computed tomography imaging obtained during multiple evaluations for cardiopulmonary symptoms incidentally demonstrated subtle thyroid enlargement with progressive interval growth on retrospective review. Core biopsy confirmed diffuse large B-cell lymphoma, and staging established stage IIIE disease. Given her age and comorbidities, a dose-reduced regimen of rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone was initiated. Despite treatment, her condition deteriorated rapidly, and she died shortly thereafter. This case underscores how overlapping comorbidities can obscure PTL presentation until advanced airway compromise develops. In patients with persistent respiratory symptoms despite appropriate cardiopulmonary management, careful review of prior imaging is critical because subtle thyroid enlargement may otherwise be overlooked.
Abstract Maple syrup urine disease (MSUD) and type 1 diabetes (T1D) require careful attention to dietary composition and predispose to ketoacidosis. The co-occurrence of these metabolic disorders therefore compounds these challenges. Here, we present a 29-year-old man with prenatally diagnosed MSUD and childhood-onset T1D who, despite extreme metabolic vulnerability, did well until his mid-20s, when he was admitted to the hospital 8 times for metabolic decompensation, with the latter 7 times occurring within a 12-month period. Most laboratory evaluations were suggestive of MSUD crisis rather than diabetic ketoacidosis. Ultimately, the patient underwent liver transplantation for definitive treatment of MSUD. The case illustrates the complexity of comanaging T1D with an inborn error of metabolism requiring dietary modification that challenges glycemic management.
Abstract Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder characterized by digital clubbing, pachydermia, and periostosis that frequently mimics acromegaly. Autosomal recessive pathogenic variants in SLCO2A1 cause PHO type 2 (PHOAR2) and are uniquely associated with chronic enteropathy associated with SLCO2A1 (CEAS). We report a 39-year-old male evaluated for acromegaly due to progressive coarse facies, cutis verticis gyrata, and profound limb clubbing. Endocrine workup demonstrated a normal growth hormone (GH) suppression test (GH nadir 0.76 ng/mL [SI: 0.76 µg/L]; reference range, <1 ng/mL [SI: <1 ug/L]) and a low-normal insulin-like growth factor 1 of 78 ng/mL (SI: 10.2 nmol/L) (reference range, 80-220 ng/mL [SI: 10.5-28.8 nmol/L]), attributable to nutritional suppression from chronic enteropathy, definitively excluding acromegaly. Severe microcytic anemia (hemoglobin 5.9 g/dL [SI: 59 g/L]; reference range, 13.0-17.0 g/dL [SI: 130-170 g/L]) resulted from gastrointestinal bleeding. Deliberate terminal ileoscopy identified an ulcerated ileocecal valve confirming CEAS. Radiography showed extensive periostosis and a normal sella turcica. Next-generation sequencing identified a homozygous SLCO2A1 pathogenic variant (c.764G>A, p.Gly255Glu), confirming PHOAR2-CEAS syndrome. Etoricoxib (120 mg daily) provided partial symptomatic relief. This case illustrates that digital clubbing in a patient with acromegaloid features mandates SLCO2A1 genetic evaluation, avoiding unnecessary pituitary investigation.
Abstract Resistance to thyroid hormones (RTH) is a rare disorder mostly caused by mutations in the thyroid hormone receptor β gene (THRB). It typically presents in late childhood or adulthood with elevated free thyroid hormone levels, inappropriately normal or high thyroid-stimulating hormone (TSH), and goiter. We report a case of RTH associated with a compressive neonatal goiter. A preterm newborn presented with respiratory distress due to a large goiter (9.7 mL; normal, <1.53 mL) requiring mechanical ventilation, as well as supraventricular tachycardia. His thyroid hormone profile was consistent with RTH: TSH, 73.8 mIU/L (normal range [NR], 1.5-15.6 mIU/L); free T4, 77.1 pmol/L (59.9 pg/mL; NR, 11.6-36 pmol/L [9.0-28.0 pg/mL]), and free T3, >30 pmol/L (>19.5 pg/mL; NR, 3.5-7.8 pmol/L [2.3-5.1 pg/mL]). Genetic testing and functional analyses identified a de novo heterozygous THRB nonsense mutation and an inherited heterozygous missense activating mutation in the TSHR gene. Treatment with tiratricol reduced TSH levels and goiter size, allowing extubation after 17 days. At 4 years, the patient remains stable on tiratricol. We conclude that the activating TSH receptor mutation is responsible for the neonatal compressive goiter in the context of a loss of function in THRB.
Abstract Cabergoline is the preferred medical treatment for prolactinomas in children and adolescents because of its efficacy in reducing prolactin concentrations and tumor size. Although dopamine agonists are generally well tolerated, neuropsychiatric adverse effects have been reported, with depressive symptoms and suicidal ideation less frequently described. We report a 15-year-old girl with macroprolactinoma who developed low mood, emotional dysregulation, crying spells, reduced appetite, sleep–wake disturbance, loss of interest in previously enjoyable activities, and passive suicidal thoughts after cabergoline was increased to 1 mg twice weekly. She had no previous psychiatric history, major psychosocial stressor, manic symptoms, or psychotic features. Psychiatric assessment identified moderate depressive symptoms, with a Patient Health Questionnaire-9 score of 11. Cabergoline was reduced to 0.75 mg twice weekly because of the close temporal relationship between dose escalation and symptom onset. Her psychiatric symptoms almost completely resolved within a few days, while prolactin remained controlled. The temporal association, apparent dose relationship, and rapid improvement following dose reduction suggest a cabergoline-associated neuropsychiatric adverse reaction. Clinicians should monitor mood and suicidal ideation during dopamine agonist therapy, particularly after dose escalation and in adolescents.
