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Two young adult siblings were diagnosed as having a deficiency of acid beta-galactosidase activity in leukocytes and fibroblasts. The parents had enzyme levels approximately half of the normal level, consistent with this being the primary enzymatic lesion. Sialidose activities measured with natural and synthetic substrates in the patient's skin fibroblast cultures were normal. Hybridization of one of these patient's cells with cells from a patient with GM1 gangliosidosis, Type 1 did not show complementation of beta-galactosidase activity. However, when the cells from the patient were hybridized with cells from a patient with combined sialidase and beta-galactosidase deficiency, complementation was observed. These two siblings have ataxia, mild intellectual deterioration, slurred speech, mild vertebral changes and little, if any, visceromegaly. They do not have myoclonus, seizures or cherry-red spots, which are found in most patients with combined sialidase and beta-galactosidase deficiency. These patients are discussed with regard to other patients in the literature called variant or adult GM1 gangliosidosis.

The following is a case report of a 6-week-old premature infant in whom a ball-valve thrombus developed after prolonged central venous alimentation. Clinical presentation included facial edema, cyanotic episodes, and apnea. No murmur was present, but the diagnosis was suspected when a calcified right atrial mass became apparent on the plain chest film. The diagnosis was confirmed by echocardiography and then venous and cardiac angiography. The calcified thrombus was removed successfully from the right atrium by use of profound hypothermia with ether anesthesia and total circulatory arrest. Subsequently, the patient made an uneventful recovery and is healthy 3 years postoperatively.

Anatomical characteristics of eight inbred lines (17 to 22 generations of brothersister mating) were compared. Several differences in body and organ weights were observed which vary in statistical significance at different age levels. Sex differences in all lines are smaller body weight, but larger kidney and spleen weights in females. Salient strain characteristics are: dental caries susceptibility in one line; hereditary, dystrophy-like myopathy in another; large body size in another line and significantly smaller body size from birth to 2f days in still another line. There were also significant line-characteristic differences in heart and lung weight and in the weight of interscapular brown fat. Gonads were smallest in the dystrophic line and in males of another line the thyroid size was abnormally small at 21 days of age.

We report a previously undescribed association of severe short-limbed dwarfism and macular colobomas with histological changes of cartilage resembling to some extent those of diastrophic dysplasia. Chance occurrence of two rare disorders due to different causes is considered unlikely and the patient is presumed to have a syndrome of, as yet, unknown cause.