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A 37 year old man with learning difficulties presented to our hospital in 1999 with anorexia, 12 kg weight loss, swelling of the legs, and night sweats. On examination he had a dusky generalised pigmentation but no rash and slight hepatomegaly. He had a microcytic anaemia (haemoglobin 11.9 g/l, mean corpuscular volume 75 fl) and erythrocyte sedimentation rate 89 mm/hour. Blood biochemistry profile, serial urine samples for microscopy and culture, and chest radiography were normal. Abdominal ultrasound revealed a gross right sided hydronephrosis, but was thought to be a long standing problem caused by pelviureteric junction obstruction. There was no evidence of a pyonephrosis.
A bone marrow examination revealed non-specific reactive changes only. Lymphocyte markers were normal. Computed tomography of the chest and abdomen showed multiple enlarged lymph nodes in the mediastinum, para-aortic area, mesentery, inguinal regions, and axilla. Lymphoma was ruled out with two lymph node biopsies, the first one of which revealed non-caseating granulomata and the second showed extensive fibrosis. Toxoplasma and bartonella serology were negative. A liver biopsy was performed and the specimen was too fragmented for histology but smears and cultures for acid-fast bacilli were negative. The patient remained unwell during these investigations and was hypoalbuminaemic (28 g/l). All these above mentioned investigations took a long time because they were difficult to organise with his learning difficulties. We had to get most of them done under a general anaesthetic. This was between 1999 and the next admission in 2001.
He was admitted to the hospital in February 2001 with a two week history of intractable diarrhoea with yellow plasticine-like stools, faecal and urinary incontinence, anorexia, vomiting, and 4 kg weight loss over three months. He had abdominal distension due to a bowel ileus, confirmed on abdominal radiography. There was no evidence of any neurological involvement. His haemoglobin was 6.6 g/l, mean corpuscular volume 74 fl, C-reactive protein 108 mg/l, and albumin 15 g/l. Antiendomysial antibodies were negative. A barium follow-through examination of his bowel showed thickened jejunal mucosal folds suggesting small bowel pathology. An enteroscopic jejunal biopsy showed oedematous villi with severe active chronic inflammatory cells including macrophages which had foamy granular eosinophilic cytoplasm. Staining of these granules showed that they were periodic acid Schiff (PAS)-diastase resistant (fig 1).
What is the diagnosis in this case (tropical sprue; giardiasis; coeliac disease; Crohn’s disease; Whipple’s disease)?
What is the pathognomonic central nervous system manifestation (dementia; cerebellar syndrome; supranuclear ophthalmoplegia; facial and ocular myoclonus; brainstem syndromes)?
What is the diagnostic test?
How does one treat this condition?
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