ABSTRACT
Introduction and importance: Iron overload is an abnormal accumulation of iron in parenchymal organs that leads to end-organ damage which could be either primary or secondary to repeated blood cell transfusion, its manifestations usually start in middle age and rarely in childhood. Case presentation: The authors present a rare case of an 11-year-old male with iron overload secondary to repeated packed blood transfusion for autoimmune haemolytic anaemia. He developed type 1 diabetes, pituitary atrophy, and hepatic injury. It was difficult to maintain good control of his diabetes. He had a fatal acute circulatory collapse due to multiple organ failure. Clinical discussion: Iron overload is a clinical consequence of repeated blood transfusion that could result in end-organ damage, usually occurring in adolescence and is less likely at a young age as in our case. The accumulation of iron in the tissues causes diabetes mellitus due to the destruction of ß cells in the pancreas, and the increase in insulin resistance in the peripheral tissues. Conclusion: Iron overload is a serious complication of repeated blood transfusion, which could be prevented by early treatment with iron chelators at maximum tolerated doses.
ABSTRACT
SCHMID metaphyseal chondrodysplasia is a rare cause of short stature with a good prognosis regarding other types of chondrodysplasia in reason of the normal integrity of the growth plate. Case presentation: The authors present a rare case of 4-year-2-month-old boy referred to our Unit for harmonious short stature, he had a waddling gait, subtle micromelia, and hyperlordosis, no special facies. Clinical discussion: The skeletal scan made the diagnosis of SCHMID metaphyseal chondrodysplasia. The first laboratory workup showed elevated thyroid stimulating hormone and anti-tissue transglutaminase immunoglobulin A. The duodenal biopsies confirmed the diagnosis of coeliac disease. Treatment of levothyroxine was initiated with a gluten-free diet .6 years later, his re-evaluation showed a low insulin-like growth factor 1 and low growth hormone peaks confirming the diagnosis of growth hormone deficiency, Growth hormone therapy was initiated with an adjusted dose of levothyroxine. Conclusion: Other causes of short stature should not be missed when diagnosing chondrodysplasia, and further investigations should be carried out to detect other concomitant disorders since metaphyseal chondrodysplasia is a rare cause for short stature while hypothyroidism and coeliac disease are relatively common.