RESUMO
Osteopetrosis encompasses rare inherited metabolic bone disorders with defect in the osteoclast activity. Severe forms of presentation such as malignant infantile osteopetrosis are seen in infants and milder forms in older children. The clinical presentation includes failure to thrive, severe pallor, optic atrophy and hepatosplenomegaly. The disorder is characterised by dense bone on radiography, hence the name marble bone disease. A 10-month-old boy who presented with developmental delay, failure to thrive, nystagmus (which the mother described as wandering eye movements), splenomegaly of 16 cm and hepatomegaly of 8 cm. Investigations demonstrated severe anaemia (5.7 g/dL) and thrombocytopenia (34 x 109/L). Radiological signs which help in the diagnosis include diffuse sclerosis, bone within bone appearance, sandwich vertebrae and Erlenmeyer flask deformity. Plain radiography is an easily available and cost effective tool which can aid in the diagnosis of osteopetrosis.
RESUMO
BACKGROUND: India houses 27% of the tuberculosis cases worldwide. Pediatric tuberculosis accounts for 11% cases worldwide. Microbiological confirmation of diagnosis is difficult in children. We aimed to study the proportion of Stool CBNAAT (Cartridge Based Nucleic Acid Amplification Test) and GA CBNAAT positive cases among the presumptive cases of tuberculosis in children and assess diagnostic utility of the Stool CBNAAT in comparison to GA CBNAAT and culture. METHODS: Ours was a cross sectional study. 75 children, aged 6 months to 12 years who were presumptive cases of pulmonary tuberculosis and who were unable to expectorate, were enrolled. Gastric aspirate and stool samples were obtained and CBNAAT and culture was done. Results of stool CBNAAT were compared with GA CBNAAT and culture. RESULTS: Of the 75 children enrolled, 28 were started on antitubercular therapy, 12 of whom were microbiologically confirmed and 16 were started on clinical grounds. Overall, 10 (13.3%) and 11 (14.6%) were positive by Stool CBNAAT and GA CBNAAT respectively. GA CBNAAT and Stool CBNAAT were found to have near perfect agreement (Cohen's kappa 0.834). Stool CBNAAT had sensitivity and specificity of 73% and 97% as compared to culture. CONCLUSIONS: Stool CBNAAT may be used for bacteriological confirmation of pediatric pulmonary tuberculosis. It was found to have a high degree of concordance with the conventionally used GA CBNAAT. This test would be helpful in endemic countries where there is a dearth of trained staff, especially in the periphery, to obtain gastric aspirate. Discomfort associated with sampling would be avoided.
