Pheochromocytoma in pregnancy: A case Report.

This is the case of a 38 year-old female patient with an intrauterine pregnancy, in which a previous incidentally identified adrenal mass proved to be a pheochromocytoma during the antenatal period. The patient was started on α-and ß-adrenergic blockade to maintain hemodynamic stability, and surgical removal of the lesion was performed during the second trimester without major complications. In view of the rarity of this disorder in pregnancy, it is imperative to have a high index of suspicion for a prompt and dedicated management, since this tumor, if unrecognized, is associated with high fetal and maternal mortality.

An uncommon presentation of follicular thyroid carcinoma: when chronic back pain should raise a flag.

Follicular thyroid carcinoma is the second most common type of thyroid cancer, and its incidence has increased dramatically in recent years. Although it typically presents as a thyroid nodule, it can spread to distant sites via hematogenous dissemination. Bone metastasis is diagnosed clinically in 2%-13% of patients with differentiated thyroid cancer; nevertheless spinal cord compression complicating thyroid carcinoma is rare and only few cases has been reported in the literature. This case illustrates a strange case of a minimally invasive follicular carcinoma that showed an aggressive behavior, and thus the importance of considering metastatic thyroid carcinoma in the differential diagnosis of chronic back pain progressing to spinal cord compression carrying a severe morbidity.

UNCOMMON PRESENTATION OF FOLLICULAR THYROID CARCINOMA: WHEN CHRONIC BACK PAIN SHOULD RAISE A FLAG.

Follicular thyroid carcinoma is the second most common type of thyroid cancer, and its incidence has increased dramatically in recent years. Although it typically presents as a thyroid nodule, it can spread to distant sites via hematogenous dissemination. Spinal cord compression complicating thyroid carcinoma is rare with only few cases reported in the literature. This case illustrates a minimally invasive follicular carcinoma that showed such an aggressive behavior, and thus the importance of considering metastatic thyroid carcinoma in the differential diagnosis of chronic back pain, which may possibly progress to spinal cord compression carrying severe morbidity.

Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant.

PURPOSE: To present the case of two siblings with a genetic diagnosis of Bardet Biedl syndrome (BBS) type 1, yet different clinical profiles and disease manifestations. OBSERVATIONS: Sequencing analysis revealed a p.Met390Arg pathogenic variant in the BBS1 gene of both patients, as well as several additional variants of uncertain significance Patient 1 was 41 years old, had three primary (cone-rod dystrophy, hypogonadism, and truncal obesity) and three secondary (arterial hypertension, strabismus, and astigmatism) BBS features. He also had insulin resistance, as well as low levels of total testosterone and cortisol. Patient 2 was 43 years old, had two primary (cone-rod dystrophy and truncal obesity), and four secondary (arterial hypertension, diabetes mellitus, strabismus, and astigmatism) BBS features. Both patients had severe maculopathy; however, patient 1 had bone-spicules that extended up to the mid-periphery, in a perivenular pattern, and significant vascular attenuation with "ghost vessel" appearance towards the temporal periphery, a feature that was absent on patient 2. CONCLUSIONS AND IMPORTANCE: The intrafamilial phenotypic variability among our patients supports the hypothesis that BBS is a disease with genetic, hormonal, and environmental triggers interacting to produce phenotypic variability. Although our report may not establish a definite relationship between environmental and genetic influences, their role should be explored in future studies.