Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder characterized by the occurrence of combined tumors in different glands, usually the parathyroid, pancreas and pituitary, as well as in other parts of the digestive tract. The present study describes the phenotype of a Brazilian family with MEN1 caused by a previously unreported MEN1 gene mutation. Case Report: We report the case of a 41-year-old male, the proband, who presented with angiofibromas, primary hyperparathyroidism, macroprolactinoma, and pancreatic neuroendocrine tumor. Next generation sequencing analysis of the MEN1 gene in the patient's peripheral blood DNA sample revealed a deletion of 16 base pairs (c.1366-12_1369del;p) resulting in a framing error. Additional 5 members of the family (4 brothers and a first cousin) presented with clinical features of MEN1. All brothers underwent mutation screening and tested positive for the same genetic variant. Two of them were also diagnosed with papillary thyroid carcinoma. Discussion: The c.1366-12_1369del;p mutation is located between the 10th and last exon of the MEN 1 gene and it's preceding intron, encompassing the canonical sites in the splice junction. The 10th exon of MEN1, possibly lost with this variant, encodes the last 163 amino acids that compose the Menin protein's C-terminal region, which harbors nuclear localization signals essential for its internalization into the nuclear compartment and interaction with the nuclear matrix. Conclusion: Our case reports add to the literature the description of a new pathogenic variant of the MEN 1 gene.
Background/Objective: Thyrotoxic periodic paralysis (TPP) is a rare condition causing weakness of the lower extremities associated with significant hypokalemia. Likewise, agranulocytosis due to methimazole use is a rare occurrence. We present the first documented case of concomitant TPP and agranulocytosis from methimazole use. Case Report: A 48-year-old woman presented with sore throat, fevers, odynophagia, and suddenonset bilateral leg weakness. Methimazole had been started 10 weeks prior for a new diagnosis of Graves' disease. On admission, the patient was febrile, tachycardic, thyrotoxic, and neutropenic. She also experienced near-paralysis of the lower extremities. She was diagnosed with TPP and treated with beta blockade. She was admitted to the intensive care unit and started on broad-spectrum antibiotics, lithium, and propranolol for treatment of septic shock and hyperthyroidism, respectively. Given persistent hypokalemia despite 2 days of therapy, she was also diagnosed with refeeding syndrome. Discussion: TPP is a rare entity, though it should be considered on the differential for any thyrotoxic patient presenting with sudden weakness. If the associated hypokalemia does not begin to normalize within 48 h of beta blockade, other etiologies should be investigated. Lastly, alternative treatments such as lithium may be used to control hyperthyroidism in patients with methimazole-induced agranulocytosis. Conclusion: While methimazole-induced agranulocytosis and thyrotoxic periodic paralysis are independently rare diagnoses, the combination of the 2 is exceedingly rare, and our case represents the first documented case in the literature reflecting a patient suffering from both syndromes. (c) 2024 AACE. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Background/Objective: Papillary thyroid cancer (PTC) is considered the most common form of thyroid cancer. Papillary thyroid microcarcinomas (PTMCs) are defined as papillary carcinomas that are <1 cm and are often identified on surgical pathology but may be missed by ultrasound imaging. Case Report: Our case describes a 24-year-old woman who initially presented with a right lateral neck lump. This was thought to be a lipoma, and no workup was performed until it began to grow during pregnancy 3 to 4 years after initial presentation. The patient underwent excision with findings of a level 5B lymph node with pathology consistent with PTC, follicular variant. Neck ultrasound performed in an imaging center and in our clinic did not reveal thyroid nodules or abnormal appearing lymph nodes. Solid tumor profiling assay identified a neurotrophic tropomyosin receptor kinase (NTRK)-3 fusion: ETV6(4)-NTRK3(14) mutation. Discussion: PTMCs are identified with increased frequency due to improved ultrasound imaging and fine needle aspiration techniques. PTMCs are often associated with a benign course and are rarely metastatic. There has been growing interest in NTRK fusion mutations in PTC that has been associated with an increased risk of metastasis. Conclusion: This case is unusual in that multiple cervical nodal metastases were present even without a sizable primary thyroid tumor. Although more studies are needed to elucidate the clinical and prognostic significance of NTRK fusion mutations in PTMC, their response to tropomyosin receptor kinase inhibitors may represent a future pathway for treatment. (c) 2024 AACE. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
