Crohn's Disease Presenting as Metabolic Myopathy: A Case Report.

Myopathies associated with systemic diseases results from several different disease processes. Myopathy as the initial presenting symptom in Crohn's disease is a rare presentation. We report a 20-yearr-old lady who presented with a painful proximal myopathy. On examination, she was malnourished with pallor, angular cheilitis, Bitots spots, and bilateral pitting pedal edema. Laboratory evaluation showed iron deficiency anemia, hypoalbuminemia, and very low vitamin D levels with elevated creatine phosphokinase levels. A possibility of osteomalacic metabolic myopathy due to vitamin D deficiency was considered. The malabsorption workup was negative. A colonoscopic biopsy showed noncaseating granulomatous inflammation suggestive of Crohn's disease. With supplementary therapy and specific treatment, she was asymptomatic at 6-months follow-up with no residual neurological deficits. A detailed history and an algorithmic approach will be very useful in making the differential diagnosis in any patient presenting with muscle weakness in myopathy associated with systemic illness.

Seronegative limbic encephalitis in association with Sjögren's syndrome: a rare case report.

Limbic encephalitis is often due to an autoimmune or paraneoplastic disease and is always a diagnostic challenge. We report a 31-year-old lady who presented with fever and proximal weakness to start with and afterwards developed refractory focal onset seizures and worsening cognition despite optimum treatment. Evaluation revealed hypokalemia with a normal anion gap metabolic acidosis. Magnetic resonance imaging (MRI) brain showed features of limbic encephalitis. Cerebrospinal fluid (CSF) showed lymphocytosis and CSF autoimmune, paraneoplastic and viral encephalitis panel were negative. However a blood ANA profile clinched the diagnosis when SS-A and Ro 52 were strongly positive. She was given steroids and subsequently plasma exchange. A labial gland biopsy confirmed the diagnosis of Sjögren syndrome. In cases of autoimmune limbic encephalitis with no identifiable cause, serological screening for rheumatological disorders is recommended. Sjögren syndrome is a rare aetiology for autoimmune limbic encephalitis. A detailed history and a step wise approach is always the key to the right diagnosis.

Mass spectrometric and physiological validation of a sensitive, automated, direct immunoassay for serum estradiol using the Architect.

BACKGROUND: Measurement of estradiol (E(2)) plays a critical role in the diagnosis and clinical management of reproductive disorders. The challenge for all currently available direct methods for measuring E(2) is to provide accuracy and precision across a wide dynamic range. METHODS: We describe the development and multi-site performance evaluation of a direct E(2) assay on the Architect i2000. Assay performance and method comparisons were performed by testing specimens from men, healthy women with regular menstrual cycles, and post-menopausal women using the Architect assay and isotope dilution, gas chromatography-mass spectrometry (ID/GC-MS). Reference intervals were established by testing prospectively collected daily blood draws from 42 healthy women, 72 postmenopausal women and 101 males. RESULTS: No unexpected cross-reactivity or interference was observed for over 40 compounds tested. Recovery was 100+/-10% in the presence of estrone and estriol. Functional sensitivity (%CV<20%) was <15 pg/ml.(1) The imprecision of the assay was <7.1% (total CV), <2.5%, and <2.3% for control sera containing 45, 190, and 600 pg/ml estradiol, respectively. The assay had a correlation of y=1.033 x+0.3156, r(2)=0.99, n=131 compared to ID/GC-MS. Reference intervals for the current Architect Estradiol assay are reported. CONCLUSIONS: Format changes resulted in dramatic improvement in the performance and accuracy of this direct, fully automated assay. The assay is standardized by ID/GC-MS. The assay is clinically useful for serum concentrations from 15 to >4000 pg/ml.

Changes in glutathione, glutathione-linked enzymes and hexose monophosphate shunt enzymes in senile cataract.

Changes in glucose-6-phosphate dehydrogenase (G-6-PD), glutathione reductase (GSH-R), reduced glutathione (GSH), glutathione peroxidase (GSH-PO), transketolase (TK) and transaldolase (TA) were studied in lens and red blood cells (RBCs) to understand the possible biochemical mechanisms responsible for the development of senile cataract. The activity of G-6-PD was increased in lens, though not so in erythrocytes during cataractogenesis. A marked decrease was observed in GSH level and GSH-R activity in the lens and RBCs of the cataractous group. The activity of GSH-PO was remarkably high in lens but not in the erythrocytes during the maturity of cataract. The activity of TK decreased gradually in both the lens and erythrocytes. The activity of TA decreased in erythrocytes but increased in the lens with maturation of cataract.