Wilson's disease: a diagnostic dilemma.

A 13 year old boy presented with headache, sore throat, myalgia, and fever and subsequently developed haemolytic anaemia and acute liver failure. Wilson''s disease, a rare cause of acute liver failure, was diagnosed at necropsy. In such cases Wilson''s disease must be diagnosed at an early stage for treatment to be effective. The most reliable indications are increased urinary and hepatic copper concentrations.     

Retinal vasculitis: a diagnostic dilemma

Inflammation of the retinal vasculature, retinal vasculitis, is a poorly understood category of ocular pathology. Patients may or may not be symptomatic. Retinal vasculitis, classified as arteritis or phlebitis, can present as a sole clinical feature or can be accompanied by an anterior uveitis, vitritis, retinal hemorrhages and/or retinal ischemia, thereby making diagnosis difficult. There is evidence that most causes of vasculitis involve an autoimmune response to specific antigens. This disorder may occur in association with infectious disease, systemic inflammatory disorders, primary ocular conditions or as an idiopathic syndrome. Differential diagnosis includes eliminating these etiologies as well as non-inflammatory disorders which can mimic true retinal vasculitis. Proper identification along with timely treatment is crucial in the management of this potentially visually devastating entity. This article provides a current, general guide to the etiology and differential diagnosis of retinal vasculitis. The clinical presentation will be illustrated through four case presentations. The practitioner will also be provided with a tailored approach to management.     

Cushing's syndrome due to huge adrenocortical multinodular hyperplasia.

A case of Cushing's syndrome due to huge adrenocortial multinodular hyperplasia who was shown to be hyperresponsive to ACTH administration, unresponsive to metyrapone administration and resistant to dexamethasone high dose suppression was reported. After two years' duration of his symptoms, the multinodular adrenals weighing 161 g in total were removed by bilateral adrenalectomy which abolished his symptoms. Postoperatively, plasma ACTH rose gradually to above normal levels, suggesting the presence of primary disorder in the hypothalamus-pituitary axis.     

Radioiodine treatment of multinodular non-toxic goitre.

OBJECTIVE--To investigate the long term effect of radioactive iodine on thyroid function and size in patients with non-toxic multinodular goitre. DESIGN--Consecutive patients with multinodular non-toxic goitre selected for radioactive iodine treatment and followed for a minimum of 12 months (median 48 months) after an intended dose of 3.7 MBq/g thyroid tissue corrected to a 100% uptake of iodine-131 in 24 hours. PATIENTS--69 patients with a growing multinodular non-toxic goitre causing local compression symptoms or cosmetic inconveniences. The treatment was chosen because of a high operative risk, previous thyroidectomy, or refusal to be operated on. MAIN OUTCOME MEASUREMENTS--Standard thyroid function variables and ultrasonically determined thyroid volume before treatment as well as 1, 2, 3, 6, and 12 months after treatment and then once a year. RESULTS--56 patients were treated with a single dose of 131I, 12 with two doses, and one with four doses. In 45 patients treated with one dose and remaining euthyroid the median thyroid volume was reduced from 73 (interquartile range 50-106) ml to 29 (23-48) ml at 24 months in the 39 patients in whom this was measured during follow up. The median reduction was 40 (22-48) ml (60% reduction, p < 0.0001), half of which occurred within three months. Patients treated with two doses as well as those developing hypothyroidism and hyperthyroidism had a significant reduction in thyroid volume. Eleven patients developed hypothyroidism (cumulative five year risk 22%, 95% confidence interval 4.8% to 38.4%). Side effects were few: three cases of hyperthyroidism and two cases of radiation thyroiditis. Only one patient was dissatisfied with the result; she was referred for operation six months after treatment. CONCLUSIONS--A substantial reduction in thyroid volume accompanied by a low incidence of hypothyroidism and few side effects makes the use of radioactive iodine an attractive alternative to surgery in selected cases of non-toxic multinodular goitre.     

An autosomal dominant form of adolescent multinodular goiter.

Eighteen members of an extended pedigree have been found to have a form of euthyroid adolescent multinodular goiter. Histological examination showed multiple adenomata with areas of epithelial hyperplasia, hemorrhage, and calcification. In two subjects there were focal areas of epithelial hyperplasia reminiscent of low-grade papillary carcinoma, but capsular and vascular invasion was not found. The pattern of inheritance appeared to be autosomal dominant, with diminished penetrance in males. Although the patients were euthyroid, the likely basis for this disorder is an abnormality in thyroglobulin structure and function.