Immunofluorescent labeling of collagen VI in fibroblast cultures is a useful addition to current diagnostic services for Bethlem myopathy (BM). It can be used to guide molecular genetic testing, the gold standard diagnostic technique for BM, in a cost-effective and time-saving manner.

The ceroid-lipofuscinoses are a group of inherited neurodegenerative diseases of humans and animals characterised by the accumulation of a fluorescent lipopigment in neurons and other cells within the body. Syndromes occurring in dogs are classified, on the basis of the age of onset and, to a lesser degree, the course of the disease, as prepubertal-protracted, early adult acute and adult onset. Clinical signs are generally those of progressive loss of vision, motor disturbances such as ataxia, tremors, seizures and proprioceptive deficits together with behavioural changes including loss of learned behaviour, fearfulness and aggression. The various syndromes can be expected to reflect different mutations, at least some of which affect the catabolism of subunit c of mitochondrial adenosine triphosphate (ATP) synthase. Confirfnation of diagnosis depends on the demonstration of lipopigment in brain or skin biopsies by histochemistry, fluorescence or electron microscopy.

A 13-year-old Standardbred stallion presented with a unilateral mucopurulent nasal discharge and airway obstruction was found to have an extensive cryptococcal nasal granuloma. Treatment was not attempted. The stallion was destroyed 26 months later having completed 2 successful breeding seasons. The granuloma had gradually increased in size and almost completely occupied the left nasal cavity and paranasal sinuses. It was characterised histologically by fibrous and myxomatous tissue and masses of yeasts. A cryptococcal granuloma found within the wall of the jejunum could represent evidence of dissemination, and organisms were seen within alveoli, bronchioles and the intestinal lumen.

Bilateral proptosis of the eyeballs and prolapse of the membrana nictitans together with frontal sinusitis in a cat were found to be due to infection with the fungus, Aspergillus. No predisposing cause for the infection was detected. This is the first report of this particular manifestation of aspergillosis in the cat.

Only four cases of tricuspid stenosis related to endocardial pacemaker leads have been reported. Two further cases associated with perforation of a tricuspid valve leaflet by a pacemaker lead are presented: a 46 year old woman and a 60 year old man. It is possible that tricuspid valve disease related to endocardial pacemaker and non-thoracotomy defibrillator leads is underrecognised. Diagnosis requires clinical suspicion and the use of Doppler echocardiography. Recent evidence of fibrosis aVecting the tricuspid valve in hearts from patients who have had nonthoracotomy defibrillator implants suggests that this problem could be more common in the future. (Heart 2000;83:351-352)