Trisomy 18 in a 20-year-old woman

A 20-year-old female with trisomy 18 is described. Survival past infancy is rare in this disorder. Little is known concerning the factors that contribute to prolonged survival with this syndrome. This case provides an opportunity to review the management of older children and young adults with trisomy 18.     

Progressive dyspnea in a 46-year-old woman.

BACKGROUND: Hypersensitivity pneumonitis (HP) is an inflammatory lung disease that requires a high index of suspicion and evaluation for potential causative antigens in the patient's environment. OBJECTIVE: To describe a patient referred for allergic rhinitis who was found to have progressive dyspnea and was ultimately diagnosed as having HP. METHODS: The history of progressive dyspnea with findings of diffuse pulmonary crackles on physical examination and restrictive pulmonary function testing prompted further radiologic, pathologic, laboratory, and home environment evaluations. RESULTS: The constellation of findings from these studies led to the diagnosis of HP secondary to parakeet antigens. Elimination of further antigen exposure and corticosteroid therapy led to resolution of the patient's symptoms. CONCLUSION: Prompt diagnosis and removal of the antigen source are of paramount importance in the management of HP.     

A 20-year-old woman with Hashimoto's thyroiditis and Evans' syndrome

Here we report the case of a 20-year-old female patient previously diagnosed with Hashimoto's thyroiditis and overt hypothyroidism, and who had been taking synthetic thyroxine (100 microg/day) for eight months. She experienced intermittent dizziness and generalized weakness, and was diagnosed as having severe autoimmune hemolytic anemia (AIHA). We prescribed prednisolone treatment and continued synthetic thyroxine administration. Two years and five months later, she developed idiopathic thrombocytopenic purpura (ITP) and was diagnosed with Evans' syndrome. Thereafter, laparoscopic splenectomy was performed because her autoimmune hemolytic anemia was refractory and dependent on steroid therapy. The HLA genotypes of the patient were HLA-A*020101/A* 2602, HLA-B*270502/B*5401, HLA-Cw*0102/Cw*020202, HLA-DRB1*0404/DRB1*0405, and HLA-DQB1*0302/DQ B1*0401. Hashimoto's thyroiditis is often associated with other nonendocrine autoimmune diseases, and antithyroid antibodies are frequently observed in Evans' syndrome (coexistence of AIHA and ITP). However, there is no report of Evans' syndrome developing in patients with overt hypothyroidism and Hashimoto's thyroiditis. This case suggests that three autoimmune diseases (AIHA, ITP, and Hashimoto's thyroiditis) might share a common immunogenetic pathway in pathogenesis.     

Nodular hidradenoma in a 19-year-old woman

Hidradenomas are rare adnexal tumors. Recently, two groups have been individualized: those with eccrine differentiation called poroid hidradenoma and those with apocrine differentiation called clear-cell hidradenoma or nodular hidradenoma. Herein we report a case of 19-year old woman with a nodular hidradenoma of the scapular region. Our report highlights the clinic-pathological characteristics of these tumors and emphasizes the benefit of complete local excision to prevent risk of recurrence and possible malignant potential.     

Rib pain in a 23-year-old woman with severe asthma.

This case illustrates the importance of considering a wide range of diagnoses in patients complaining of rib, flank, and pleuritic pain. Further, additional evaluation is warranted when "pneumonia" does not respond to conventional treatment.