A Case of Klinefelter's Syndrome Accompanying with Polymyositis

Klinefelter's syndrome which is characterized by hypogonadism with karyotype abnormality (47 XXY or 46 XY/47 XXY) in males has been reported to be associated with autoimmune diseases including rheumatoid arthritis and systemic lupus erythematosus. However, Klinefelter's syndrome accompanying with polymyositis has rarely been reported. We report a case of KFS with polymyosits in a 38-year old man for the first time in Korea.

A Case of Warfarin-Induced Intramural Hematoma Diagnosed by Double-Balloon Enteroscopy

Although bleeding is a major complication of oral anticoagulant therapy, warfarin-induced spontaneous intramural hematoma of the small bowel is a very rare complication. The clinical features of spontaneous intramural hematoma vary from mild abdominal pain to panperitonitis due to bowel perforation. Because spontaneous intramural hematoma can proceed to a life threatening situation, early diagnosis is of vital importance. Although there are a number of radiologic diagnostic tools available including abdominal ultrasonography and computed tomography, confirmation of the diagnosis through direct visualization of the involved bowel mucosa is very helpful. Direct confirmation of warfarin-induced spontaneous intramural hematoma of the small bowel is possible using double-balloon enteroscopy. We report a case of warfarin-induced spontaneous intramural hematoma with a review of the relevant literature.

A Case of Spondyloepiphyseal Dysplasia Tarda (SEDT) Misdiagnosed as Ankylosing Spondylitis

The spondyloepiphyseal dysplasia tarda (SEDT) is a hereditary arthropathy that progressively leads to deformities of small and large joints, irregularities of the end plates of vertebral bodies, which causes joint restriction, short stature, and gait difficulties. The typical radiographic findings of SEDT are generalized platyspondyly and dysplasia of the epiphyses, resulting in premature arthrosis. Clinically SEDT is manifested as a form of short-trunk dwarfism and early arthrosis in the period from late childhood to adolescence. The major clinical importance of this rare disease is similarity to juvenile idiopathic arthritis (JIA), which has a rather different prognosis and treatment. A few cases of SEDT have been published. However, no cases have been reported in South Korea. We describe the case of a 29-year old man who suffered from back and multiple joint pain, who was misdiagnosed as having ankylosing spondylitis. We evaluated the patient clinically and radiographically in greater detail, and changed his diagnosis to SED tarda.

Systemic Sclerosis Coincidence with Sarcoidosis: A Case Report and Review of the Literature / 대한류마티스학회지

A 62-year-old Korean woman was admitted to our department to evaluate a chronic cough and sputum, which had begun several weeks ago. The patient had been diagnosed with systemic sclerosis in 2004. Autoantibody screening tests were negative for the anticentromere and antitopoisomerase antibodies. She received therapy with combined cyclophosphamide, a calcium channel blocker, D-penicillamine, and low dose steroid. In 2006, a pulmonary function test (PFT) showed a restrictive pattern, and a computed tomography (CT) scan of the lungs revealed interstitial lung disease, but no symptoms were present, so we maintained her on the medication. In October 2008, a chest x-ray and CT scan of the lungs demonstrated aggravation with bilateral basal interstitial infiltrates and hilar lymphadenopathy. Cyclophosphamide pulse therapy was conducted six times during 6 months, but there was no change on her chest CT and PFT, and she had no symptoms, so we decided to follow up. On admission, no significant interval change in the reticular opacity of both lower lungs was observed, but several lymph nodes were enlarged on a chest and neck CT. The skin showed multiple large polygonal-shaped scaled lesions on her upper and lower extremities. Biopsies were taken from the skin of the lower extremities and the left cervical lymph node. Typical non-caseating granulomas corresponding to sarcoidosis were found along with systemic sclerosis findings.