Papillary thyroid carcinoma frequently metastasizes to regional lymph nodes. However, cervical lymph node metastasis as a sole manifestation of occult papillary thyroid carcinoma is rarely observed. Ectopic thyroid is an uncommon condition defined as the presence of thyroid tissue at a site other than pretracheal area. Approximately 1–3% of all ectopic thyroid tissue is located in the lateral neck. This entity may represent the only functional thyroid tissue in the body. Malignant transformation of ectopic thyroid is uncommon; but even rarer is the development of papillary carcinoma on it. We present a case of a 33-year-old man with an incidental lateral neck mass diagnosed after a motor vehicle accident. Total thyroidectomy and lymph node resection were completed without evidence of papillary thyroid carcinoma. Malignant transformation of heterotopic thyroid tissue was the final diagnosis. The possibility of an ectopic thyroid cancer should be considered in the differential diagnosis of a pathological mass in the neck. The uniqueness of this case strives in the rarity that the thyroid gland was free of malignancy, despite ectopic tissue being positive for thyroid carcinoma. Management strategies, including performance of total thyroidectomy, neck dissection, and treatment with radioiodine, should be based on individualized risk assessment.

In this report, we describe seven new patients with a severe deficiency of glutaryl-CoA dehydrogenase in cultured skin fibroblasts. Three of the patients studied excreted high levels of glutaric acid. The remaining four patients presented a lack of significant glutaric aciduria. However, glutaric acid was found in increased levels in CSF. In both groups of patients, the urine glutaric acid levels were not related to their metabolic condition at the time of sampling. Hypocarnitinemia was a common finding. Some patients also showed defects on respiratory chain complexes in muscle biopsy. Only one patient has a normal psychomotor development. The other six patients are severely handicapped despite the attempts of different therapies. In patients with progressive neurological deterioration with dystonia and cerebellar signs associated with temporal lobe atrophy and bilateral basal ganglia damage on MRI, a glutaric aciduria type I (GA I) should always be investigated. The presence of glutaric acid in body fluids, especially in CSF, as well as plasma carnitine levels, should be determined. These procedures can lead to the diagnosis of glutaric aciduria type I.

Summary Lingual thyroid (LT) gland is the most common type of ectopic thyroid tissue, but it is an extremely rare presentation. We present a case of a 41-year-old Hispanic female patient complaining of dysphonia and dysphagia. As part of the evaluation, fiber optic flexible indirect laryngoscopy (FIL) was performed which revealed a mass at the base of the tongue. The morphological examination was highly suspicious for ectopic thyroid tissue and the diagnosis was confirmed with neck ultrasound and thyroid scintigraphy. Although the patient presented subclinical hypothyroidism, levothyroxine therapy was initiated with a favorable response which included resolution of symptoms and mass size reduction. Our case portrays how thyroid hormone replacement therapy (THRT) may lead to a reduction in the size of the ectopic tissue and improvement of symptoms, thus avoiding the need for surgical intervention which could result in profound hypothyroidism severely affecting the patients’ quality of life. Learning points: Benign LT and malignant LT are indistinguishable clinically and radiographically for which histopathology is recommended. THRT, radioactive iodine 131 (RAI) therapy, and surgical excision are potential management options for LT. THRT may lead to size reduction of the ectopic tissue and resolution of symptoms avoiding surgical intervention.

Uterine leiomyosarcomas are aggressive tumors associated with a poor prognosis. These neoplasms have high metastatic potential, more frequently affecting the lungs, liver, and peritoneum. There are very few cases of metastasis to the thyroid described in the literature. We present the case of a 47-year-old female diagnosed with uterine leiomyosarcoma metastatic to the thyroid gland. In this case report, we want to emphasize the utility of ancillary studies to help differentiate a leiomyosarcoma from anaplastic thyroid carcinoma since cytologic evaluation alone can be challenging.