Townes-Brocks syndrome with hypothyroidism.

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations. Hypothyroidism is not a recognized feature of TBS. We are reporting a case of TBS with hypothyroidism, a rare association.

Evaluation of simple clinical signs of illness in young infants (0-2 months) and its correlation with WHO IMCI algorithm (7 days to 2 months).

OBJECTIVE: To evaluate simple clinical signs of illness in young infants (0 to 2 months) and to correlate with WHO IMCI algorithm (7 days-2 months). DESIGN: Prospective observational. Study conducted in the outpatient department and emergency room of a pediatric tertiary level hospital. METHODS: Four hundred and ninety seven young infants (0 to 2 months) presenting to outpatient department or emergency room were recruited. Detailed history, clinical examination including all signs in IMCI algorithm was recorded in the pre-designed proforma. The study subjects were investigated and managed according to the protocol of treating unit, which served as gold standard. The diagnostic and therapeutic agreement between the gold standard and IMCI was computed. The study subjects were analyzed as one age group (0 to 2 months) and also after de- segregating into early and late neonatal age group (0 to 7 days and 7 days to 2 months age). RESULTS: Mean number of illnesses in 0 to 7 days, 7 days-2 months and 0-2 months groups were 1.97, 2.0 and 2.02 respectively. Those who required referral as per IMCI algorithm had higher proportion of co-morbidities. The referral criteria were fairly sensitive (78 to 85 percent) in predicting hospitalization with moderately high specificity (78 percent). Diagnostic agreement between gold standard and IMCI module was complete in 57 to 68 percent. Amongst diagnostic mismatch, under-diagnosis was found more frequently (72 to 82 percent) than over-diagnosis (17 to 29 percent). The sensitivity of algorithm to identify serious bacterial infections was quite high (96 to 98 percent) with moderately good specificity (80 to 92 percent). Jaundice was single most important complaint accounting for 47 to 62 percent of diagnostic mismatch. CONCLUSION: IMCI algorithm appears to be a promising, feasible and useful intervention strategy to triage and treat young infants in 7 days-2 months age group. This tool remains effective even when extended to 0 to 7 days age group. However a further increase in its sensitivity can be achieved by including yellowness of lower extremities/ palms/ soles as a criterion.