Two hundred and fifty children with clinical, biochemical and radiological evidence of vitamin-D-deficiency rickets were studied over a period of 5 years. Their ages ranged from 1 month to 2 years. Breastfed infants formed 63% of total cases. Intramuscular therapy with vitamin D in a dose of 600,000 IU, deep intramuscular, proved to be safe and effective. In contrast, oral vitamin D did not provide such satisfactory results, presumably owing to poor patient/parental compliance. This report reveals that vitamin-D-deficieny rickets is common in Kuwait in spite of abundant sunlight all through the year because children are wrapped up and kept indoors. Insufficient intake of vitamin D is another important factor in the pathogenesis of vitamin-D-deficiency rickets in Kuwait.
Angiokeratoma corporis diffusum is a rare X-linked disorder caused by a deficiency of the enzyme c-galactosidase within the cellular lysosomes.l The circulating and urinary levels of the glycolipid ceramidetrihexoside are increased, causing gradual deposition of the abnormal lipid in the small vessels throughout the body.2
Clinical featuresPains in the fingers and toes beginning in late childhood are a major feature of the disorder. These are frequently transient but often excruciating. The cardinal sign is a cutaneous eruption consisting of tiny, painless, angiomatous punctae, confined mainly to the lower half of the body, although occasionally found within the mouth. Clusters occur over both trochanters and around the umbilicus, to which they impart a characteristic rosette appearance. Rare in women, the eruption in men may be concealed by the underpants. Corneal opacities, retinal vein abnormalities, and disturbances of temperature regulation are common, and renal failure or intracranial haemorrhages are the usual terminal events.3 Diagnosis based on biochemical assay alone is rare.4 We describe here three cases.
The association of renal tubular acidosis and osteopetrosis in 2 Arabic siblings is reported. In addition, basal ganglial calcification and mental subnormality were present in 1 sibling. The major clinical manifestation in both was periodic hypokalemic paresis. The syndrome appears to be transmitted by recessive inheritance.
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