[Bernard-Soulier syndrome with special reference to platelet-membrane glycoprotein abnormalities].
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Biomedical subjects
Publications and source records attributed to M Osame.
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Progressive neurogenic muscular atrophy due to storage of a compound lipid in the lower motor neurons was diagnosed in 3 English Pointers that were littermates. Using 2 clinically normal littermates of these 3 affected dogs and 2 clinically normal dogs of the 2nd litter from the parents of the original 3 affected dogs as the initial breeding stock, a breeding experiment was performed, resulting in a breeding line of 26 dogs, 4 of which had the disease and 6 of which died before 3 months of age. Results indicated that the disease may have an autosomal recessive mode of inheritance. The clinical manifestation and electrophysiologic findings indicated lower motor neuron involvement in the affected dogs produced by breeding consistent with findings in the original 3 affected dogs. Upper motor neurons or the sensory system was not involved. The disease appeared to be distinct from other canine storage diseases previously reported.
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We report a very rare case of Schwartz-Jampel syndrome associated with von Willebrand's disease. This association might be coincidental because of the different modes of inheritance of the two disorders. However, we speculate that there might be some link between the two disorders, for example in the locus of the affected gene.
We examined cardiac changes in 8 patients (4 men and 4 women, age 21-43 years) with congenital myopathy proven by skeletal muscle biopsy. Of 8 patients, 4 showed cardiac changes, including 1 with cytoplasmic body myopathy (patient 1), 2 with minimal change myopathy (patients 2 and 3) and 1 with nemaline myopathy (patient 4). Patients 1 and 2 showed left ventricular dilatation with severe global hypokinesis of left ventricular wall. These clinical features were quite similar to those of dilated cardiomyopathy and the patients were in NYHA class 3 or 4. Patient 3 had severe mitral regurgitation with mitral valve prolapse. This patient also had a persistent left superior vena cava and hypoplasia of the aorta, and her cardiac function was in NYHA class 3. Patient 4 showed moderate global left ventricular hypokinesis but the left ventricle was not dilated. This patient also had sino-atrial block and type A Wolff-Parkinson-White syndrome. His cardiac function was NYHA class 1. In conclusion, various types of congenital myopathy are associated with cardiac changes which can result in severe congestive heart failure.