Saudi experience with classic homocystinuria

Classic homocystinuria is an autosomal recessive disorder due to cystathionine P-synthase deficiency. The clinical, radiological and neurophysiological findings of classic homocystinuria diagnosed at King Faisal Specialist Hospital and Research Centre [KFSH and RC] are presented in this report. Patients and Methods: Twenty-four patients [15 females and 9 males] were referred to KFSH and RC for work-up of mental retardation, seizures, thrombo-embolic episodes and dislocation of the ocular lenses. The common clinical findings included ectopia lentis [20 patients, skeletal system involvement [18 patients], vascular system involvement [9 patients], and mental retardation [all patients to varying degrees]. Unusual findings consisted of a patient who developed severe lower gastrointestinal bleeding, a patient with insulin-dependent diabetes mellitus, probably due to vasculopathy, and another having severe bronchiectasis, which may have been due to fibril] in disruption, and required the resection of a lobe of the lung. The parents of 21 patients were first-degree relatives, and 19 patients had one or more family members affected by the same disease. All patients had markedly elevated plasma levels of methionine. Cystathionine synthase activity in the fibroblast was measured in 25% of the patients and was deficient. Only four patients responded to pyridoxine and their methionine level decreased to almost normal range. The aim of this study was to increase the awareness of this disease in the scientific and medical community, in particular in the general pediatrician working in Saudi Arabia who first encounters the clinical manifestations of the disease. Early detection through tandem mass spectrometry of blood spot screening and treatment are important, and may prevent the major complications of this disease

Bone marrow iron in nutritional anaemias.

Bone marrow smears of 168 patients with nutritional anaemias attending the Dr. J.C. Patel, Department of Hematology, K.E.M. Hospital were stained by Prussian blue method for iron (haemosiderin). Iron in the bone marrow was classified as absent, decreased, normal or increased. Amongst 93 cases with transferrin saturation (TS) of less than 16% and normoblastic erythropoiesis, bone marrow iron was absent in 48 (51.6%) and decreased in 45 (48.4%). In 50 cases with TS of less than 16% and marrow showing megaloblasts and/or giant myelocytes and metamyelocytes, bone marrow iron was absent in 15 (30%), decreased in 22 (44%), normal in 7 (14%) and increased in 6 (12%). In 25 cases with TS over 16% and megaloblastic erythropoiesis, bone marrow iron was absent in 4 (16%), decreased in 1 (4%), normal in 7 (28%) and increased in 13 (52%). In 150 (89.3%) patients out of 168, bone marrow iron and TS gave concordant results whereas in 18 (10.7%), the results were discordant; former was encountered in cases of uncomplicated iron deficiency while latter was found with megaloblastic morphology of the marrow. It is concluded that there is a good correlation between TS and bone marrow iron and hence, either of the criteria can be used for the diagnosis of iron deficiency especially when it is not complicated by megaloblastosis.