Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood.

Brachydactyly mental retardation syndrome (BDMR) is due to a rare, small chromosomal deletion of 2q37, and manifests with variable signs and symptoms in people who live with it. BDMR could be misdiagnosed as Albright hereditary osteodystrophy (AHO), because it presents with lack of hormone resistance to parathyroid hormone (PTH) and similar skeletal and craniofacial abnormalities; however, BDMR is far rarer and can present with a different phenotype. In some cases, BDMR patients exhibit malformations of the internal organs, which could cause life-threatening health issues. Associations have also been made between this chromosomal deletion and autism as well. We here report a case of BDMR with an AHO-like phenotype: mild mental retardation, along with normal calcium, phosphate, and PTH levels. Since our patient had a normal biochemical test, we considered pseudopseudohypoparathyroidism (PPHP) as the diagnosis and genetic testing was performed. Karyotype analysis showed deletion of the long q-arm of chromosome 2 in all analyzed cells-46 XX, del (2)(q37.1), which was consistent with BDMR. This deletion is a loss of around 100 genes that can present itself in various ways neurologically and physiologically, depending on the genes lost. However, because patients experience a range of symptoms such as autism, seizures, heart defects, brachydactyly, there could be unforeseen complications with BDMR. Therefore, we postulate that it is necessary to consider a diagnosis of BDMR in adults with AHO-like phenotype and normal calcium metabolism.

Drug-induced Angioedema: A Rare Side Effect of Rosuvastatin.

Hydroxymethyl glutaryl coenzyme A reductase inhibitors (statins) are first-line medication for lowering serum cholesterol levels in the prevention of cardiovascular disease. Angioedema is the swelling of mucosa and submucosal tissue. There are no published cases of drug-induced angioedema involving rosuvastatin. We report a case of a 45-year-old female who presented with episodes of self-resolving edema of face, lips, and tongue after being on rosuvastatin. The patient denied any rash during these episodes and mentioned that self-medication with diphenhydramine did not relieve her symptoms. The patient was hemodynamically stable. The complement component 4 (C4), C1 esterase inhibitor, and complement component 1q (C1q) binding assay were within normal range. Therefore, the diagnosis of hereditary angioedema was effectively ruled out. The temporal relation between rosuvastatin and the development of angioedema and prompt resolution of symptoms after the drug discontinued suggest that rosuvastatin was the most probable culprit in the development of angioedema in our patient.

Effect of Albumin Polymorphism on Thyroid Hormones: A Case Report and Literature Review.

Familial dysalbuminemic hyperthyroxinemia (FDH) is the most common cause of the inherited increase of serum thyroxine in Caucasians. This disorder occurs due to a missense mutation in the human serum albumin, resulting in an increased affinity of thyroxine to the binding sites on the human serum albumin (HSA) molecule. HSA is a carrier protein of thyroid hormones and only 10% of thyroxine (T4) is bound to human serum albumin, 75% is bound to thyroxine-binding globulin, 15% to transthyretin, and 0.03% is free. The disorder is characterized by a greater elevation of serum thyroxine than triiodothyronine (T3). The high serum concentration of T4 is due to the modification of a binding site located in the N-terminal half of HSA (in subdomain IIA). Arg218 or Arg222 gets replaced with smaller amino acids, such as histidine, proline, or serine, due to missense mutation; this reduces the steric hindrances in the binding site and creates a high-affinity binding site for thyroxine. We herein report a case of FDH with a characteristically elevated total T4 and normal free T4 (measured by equilibrium dialysis).

Follicular Variant of Papillary Thyroid Carcinoma Presented as Autonomous Functioning Thyroid Nodule: A Case Report and Review of Literature.

Follicular variant of papillary thyroid carcinoma (FVPTC) presented as an autonomous functioning thyroid nodule is a rare finding. We reported a case of 70-year-old male presented with complaints of palpitation and heat intolerance. On palpation, we found a thyroid nodule of 4 cm in the left lobe. Thyroid function tests revealed hyperthyroidism, and radioactive iodine uptake scan (RAIU) showed increased uptake in the left lobe consistent with a hot nodule. The probability of the benign nature of hyperfunctioning thyroid nodule discussed but patient requested further workup to rule out any remote possibility of thyroid cancer. We performed a fine needle aspiration (FNA), and the cytological examination suggested the possibility of thyroid carcinoma. The patient underwent total thyroidectomy, and histological examination revealed follicular architecture with nuclear features of papillary carcinoma in 1 cm area of the thyroid nodule. In the review of the literature, we identified the following seven cases of FVPTC arising within a hyperfunctioning thyroid nodule.

Age Limit and Radiotherapy Option for Sarcomatoid Carcinoma of the Larynx: A Case Report with Literature Review.

Sarcomatoid carcinomas, also known as spindle cell carcinomas (SPCCs), are rare carcinomas, predominantly developing in the lung. They have lots of features of sarcoma in their histological features. The standard laryngeal carcinoma classification is based on tumor size, lymph node affection, and metastasis (TNM), it is the classification scheme of the American Joint Committee on Cancer Staging (AJCC), and it is used in the same way for stage spindle cell carcinoma (SPCC). We present a case report of a young female along with a literature review of sarcomatoid carcinoma of the larynx.