Hi biomed students



Hi biomed students. Take the following true transcript of a patient and rewrite the underlined parts in your own words. Use the white medical term books or your brain to figure it out. I want to know everything you can figure out with the word. Have fun .Mr. D. (

PATIENT HISTORY:

The patient is a 32 year old normotensive, non-diabetic male with no significant past medical history. He developed recurrent fevers of unknown origin which appeared to wax and wane independent of antibiotic treatment. Over a period of several months, an extensive work up was performed which was essentially negative, including an echocardiogram to rule out endocarditis, a bone scan to rule out occult infection, a chest radiograph, computed tomography (CT) scans of the head, sinuses, abdomen, and pelvis, and multiple blood cultures. The following tests were also negative: HIV, PPD, RPR, ANA, rheumatoid factor, Monospot, and lyme titers. Serological tests showed only IgG positivity for CMV and EBV. A pyelogram showed only a filling defect due to an enlarged prostate.

The patient had enlarged, non-tender, bilateral lymphadenopathy in the groin. A lymph node from the right groin was biopsied and showed small non-caseating granulomas. Foamy macrophages were also seen, some of which contained pigment. Overall, the changes were most suggestive of dermatopathic lymphadenopathy (a benign, reactive lymph node hyperplasia often associated with various forms of dermatitis). A bone marrow biopsy was unremarkable. Eventually, the patient underwent exploratory laparotomy with biopsies of several enlarged mesenteric lymph nodes. These lymph nodes showed reactive hyperplasia with sinuses filled by numerous large, foamy macrophages. Special stains were negative for acid fast bacilli and fungi. The material within the foamy macrophages was positive for mucin using Periodic acid-Schiff with diastase (PASD) and the patient was diagnosed with Whipple's disease (a disease characterized by the accumulation of foamy macrophages in multiple sites throughout the body, especially the gastrointestinal tract; the foamy macrophages contain bacilli, Tropheryma whippelli, and characteristically stain with PASD).

Four years later, the patient was seen for continued proteinuria and a diagnostic renal biopsy was performed.

LABORATORY DATA & MICROSCOPIC DESCRIPTIONS:

Laboratory data:

At the time of renal biopsy, proteinuria measured 1.4 grams/day, serum creatinine 1.2 mg%, and blood urea nitrogen (BUN) 13 mg%.

FINAL DIAGNOSIS: FABRY'S DISEASE

On the basis of the kidney biopsy, the patient was diagnosed with a lipid storage disorder, probably Fabry's disease. A blood test confirmed the diagnosis of Fabry's disease, showing an alpha-Galactosidase level in white blood cells of 5 nM/ mg protein/ hour, with the normal range being from 59 to 110. A retrospective review of electron micrographs of the mesenteric lymph nodes (see Images 04, 05 and 06) showed lysosomes within macrophages which contained similar prominent myelin-like bodies similar to those seen in the kidney. A retrospective review of systems revealed a 10 year history of heat and cold intolerance as well as a history of occasional sharp, poorly localized pains that felt "deep inside" to the patient. A retrospective physical examination showed subtle small telangietatic papules on the scrotum, possibly angiokeratomas.

Fabry's disease is a lysosomal storage disease that results from absent or deficient levels of alpha-galactosidase A and leads to the accumulation of neutral glycosphingolipids predominantly in the lysosomes of endothelial cells and smooth muscle cells of blood vessels. This material also accumulates to a lesser extent throughout the body in histiocytic and reticular cells. In vivo, the inclusions are significantly hydrated--swollen with water.

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