Connecticut medicine
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Connecticut medicine · Mar 2012
Historical ArticleReviewing our history: economics, culture and healthcare reform.
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Twiddler's syndrome is a rare cause of pacemaker dysfunction characterized by coiling of the lead around the rotated generator. It is even less common for implantable cardioverter-defibrillator (ICD) devices. We describe a 44-year-old woman who underwent successful implantation of an ICD and three months later presented with left arm twitching. ⋯ The diagnosis of Twiddler's syndrome with solitary atrial lead rotation was thus established. The ICD pacing mode was switched to VVI, which resulted in cessation of muscle contractions. She later underwent atrial lead revision, untwisting and reanchoring of the ICD generator without any complications.
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Connecticut medicine · Jan 2012
Case ReportsAn 18-year-old woman with Kabuki syndrome, immunoglobulin deficiency and granulomatous lymphocytic interstitial lung disease.
Granulomatous lymphocytic interstitial lung disease, or GLILD, is an uncommon condition associated with common variable immunodeficiency (CVID). We present an interesting case of an 18-year-old woman with Kabuki syndrome and CVID who was seen in our clinic for an abnormal chest CT scan. ⋯ Immune globulin replacement therapy is the main treatment for CVID and higher doses of intravenous immunoglobulin (IVIG) may prevent the progression of chronic lung disease. Patients with CVID and GLILD are at increased risk for malignancy and their prognosis is worse compared to patients with CVID without GLILD.