Homozygous familial hypercholesterolemia with generalized arterial disease.

OBJECTIVE: This report describes the clinical features and management of an 11-year-old boy with end-stage homozygous familial hypercholesterolemia (hoFH) and generalized arterial disease. CLINICAL PRESENTATION AND INTERVENTION: The patient presented with recurrent anginal episodes. On examination, he was found to have multiple planar and tendinous xanthomas, an (LDL) cholesterol level of 24.6 mmol/l and family history of hypercholesterolemia. Resting electrocardiogram showed ST depression in the anterior and inferior leads. Coronary angiogram outlined 70% stenosis of the left main coronary, ostial stenosis of the right coronary artery and extensive atherosclerotic disease of the aorta and all its major branches. The lipid profile was grossly abnormal, but the other biochemical and hematological parameters were normal. The patient was managed with metoprolol 12.5 mg twice daily, nitroglycerin infusion, antithrombotics (aspirin 75 mg once daily and heparin infusion 150 units per hour), cholesterol-lowering drugs (simvastatin 10 mg once a day, cholestyramine 4 g twice a day) and analgesics. CONCLUSION: This case report emphasizes the need to diagnose early familial hypercholesterolemia in families with heart disease and the need to test the partners of affected persons so that the risk of conceiving children with hoFH can be counseled.

Nasopharyngeal colonization of infants in southern India with Streptococcus pneumoniae.

To investigate the dynamics of nasopharyngeal colonization with Streptococcus pneumoniae, and to determine the prevalent serogroups/types (SGT) and their antimicrobial susceptibility, we studied 100 infants attending our well-baby clinic. Nasopharyngeal swab specimens were obtained at 6, 10, 14, 18 and 22 weeks and at 9 and 18 months of age and submitted for culture, serotyping and antimicrobial susceptibility testing of S. pneumoniae. Colonization with pneumococcus was seen on at least one occasion in 81 infants. The median age of acquisition was 11 weeks and the median duration of carriage was 1 3 months. The common SGTs identified were 6, 19, 14 and 15. SGT 1, which was a common invasive isolate in children in our hospital during this period, was not isolated from these children. Sequential colonization by 2, 3 or 4 SGTs was observed in 18, 5 and 2 children, respectively. Resistance to penicillin, chloramphenicol, cotrimoxazole and erythromycin was observed in 0, 13 (6%) 11 (5 %) and 5 (3 %) isolates, respectively. There was a significant difference in susceptibility to cotrimoxazole between colonizing and invasive isolates (5 % vs. 40 %, P<0.0001).