Bronchiectasis without lower respiratory symptoms in the presence of multisystem anomalies - a clinical clue to diagnose esophageal lung anomaly.

Esophageal lung is a type of Group-II communicating bronchopulmonary foregut malformations (CBPFM) usually diagnosed beyond neonatal period during investigation for recurrent respiratory symptoms and persistent radiographic features suggesting pneumonia or bronchiectasis. In our case, we noticed bronchiectasis and disproportionately severe volume loss in an infant with associated multisystem anomalies in the absence of "significant" lower respiratory tract symptoms. A detailed evaluation with repeat imaging confirmed a Group-II CBPFM, a congenital pathology instead of an infective cause. Pneumonectomy is a more prudent option instead of undertaking major airway reconstruction for the dysplastic "dysfunctional" tissue. Amongst the various associated anomalies reported till now, the associated rib and renal anomalies noted by us have not been described earlier to the best of our knowledge.

Neurodevelopmental assessment of children with congenital heart diseases using Trivandrum developmental screening chart.

Objectives: Congenital heart diseases (CHDs) are one of the most important congenital anomalies in children which have high-risk for neurodevelopment delay. This study was conducted to determine the proportion of developmental delay in children with CHD and comparison of delay between acyanotic and cyanotic heart diseases in children. Materials and Methods: A cross-sectional study was conducted on children admitted in pediatric ward of rural hospital from 6 month to 6 years of age who are diagnosed with CHD by 2D ECHO and further classified into acyanotic congenital heart disease (ACHD) and cyanotic congenital heart disease (CCHD). Neurodevelopmental assessment was done using Trivandrum development screening chart (TDSC). Results: Out of total 50 children in study population, 24 children had TDSC delay, distribution as 11 (22%) ACHD and 13 (26%) CCHD. Out of 24 children in the age group of 0-3 years, 13 (54.2%) were ACHD and 11 (45.8%) were CCHD. Out of 26 children in the age group of 3-6 years, 15 (57.7%) were ACHD and 11 (42.3%) were CCHD. Among different ACHD included in the study population (0-3 years) children with ventricular septal defect (VSD) were maximum (n = 5) next in the decreasing order was atrial septal defect (ASD) (n = 3). ACHD included in the study population (3-6 years) children with VSD was maximum (n = 6) next in the order was ASD (n = 4). Proportion of delay in children with ACHD was 22% as compared to 26% in children with CCHD. Conclusion: There is a high proportion of neurodevelopmental delay in children with CHD which can be detected using TDSC which is a simple screening tool and can be used by any health-care professional without training for the assessment of neurodevelopmental outcome in these children. Delay was more in children with CCHD than ACHD.

Bacterial meningitis or cobalamin deficiency: A diagnostic conundrum.

Studies show nearly half to two-thirds of the children in India to be deficient in vitamin B12. Meningitis is a major disease in Indian children with studies attributing up to 22% of under-five deaths to meningitis and pneumonia. India is one of the countries with the highest mortality in absolute numbers due to meningitis. Usually, the diagnosis of each of these entities is straightforward. The presence of meningeal signs, papilledema, seizures, and altered sensorium often suggests meningitis. And vitamin B12 deficiency has a myriad of clinical presentations. At times, encephalopathy secondary to cobalamin deficiency may be confused with infection. Here, we present a case that presented with signs and symptoms suggestive of central nervous system infection but turned out to be cobalamin deficiency eventually. To our knowledge, this is the first presentation of cobalamin deficiency presented with features suggestive of meningitis.

Apert Syndrome Presenting with Omphalocele

Apert syndrome is a congenital acrocephalosyndactylysyndrome. It is mainly presented by craniosynostosis,syndactyly of the hands and feet and dysmorphic facialfeatures. The condition has an autosomal dominantinheritance assigned to mutations in the FibroblastGrowth Factor Receptors (FGFR-2) gene. The reportedcase is a 9 months old boy with clinical suspicion ofApert syndrome as he had turricephaly, stubby handswith short fingers, omphalocele measuring 10 × 10 cm,bilateral undescended testes, Congenital TalipesEquinovarus (CTEV) and polydactyl and syndactyl ofgreat and second toes. He was developmentallynormal. The omphalocele was surgically repaired.Early diagnosis and intervention helps rehabilitation ofpatients with Apert syndrome and help them to lead abetter life.