Genetics of 67 patients of suspected primary ciliary dyskinesia from India.

Data are limited on the genetic profile of primary ciliary dyskinesia (PCD) from developing countries. Here, we report one of the first study on genetic profile of patients with suspected PCD from India. In this prospective cross-sectional study, we enrolled 162 children with suspected PCD. We recorded clinical features, relevant laboratory tests for PCD and performed whole exome sequencing (WES). We are reporting 67 patients here who had positive variant/s on WES. We had 117 variants in 40 genes among 67 patients. Among the 108 unique variants, 33 were categorized as pathogenic or likely pathogenic (P/LP). We had nine novel variants in out cohort. The 29 definite PCD cases, diagnosed by composite reference standards, had variants in 16 genes namely LRRC6/DNAAF11 (5), DNAH5 (3), CCDC39 (3), HYDIN (3), DNAH11 (2), CCDC40 (2), CCDC65 (2) and one each DNAAF3, DNAAF2, CFAP300, RPGR, CCDC103, CCDC114, SPAG1, DNAI1, and DNAH14. To conclude, we identified 108 unique variants in 40 genes among 67 patients. The common genes involved in definite cases of PCD in Indian patients were LRRC6, DNAH5, CCDC39, and HYDIN. Our findings suggest a need to develop a separate genetic panel for PCD in the Indian population.

Congenital Cyst Adenoid Malformation Masquerading as Bronchial Asthma.

Congenital cyst adenoid malformation (CCAM) is a rare congenital malformation occurring in approximately 1-4 in 100,000 births. It is classified into five subtypes with type 1 CCAM is most common subtype. The diagnosis of CCAM is usually made in infancy, and it is rare in adolescents and adults. We report a 15-year-old female, who presented in pediatric outpatient department with a history of recurrent cough since infancy. On the basis of clinical examination, provisional diagnosis of asthma was considered and patient was started on inhaled corticosteroid and long-term ß2 agonist. Lung function of the patient revealed low forced expiratory volume-1 s but without bronchodilator reversibility. Therefore, alternative diagnosis was suspected, and the patient was further evaluated with X-ray chest and high resolution computed tomography thorax. Based on radiological findings, a final diagnosis of CCAM was established. The case was highly unusual due to its atypical and late age of presentation. Acquaintance about this condition benefit clinician in making differential diagnosis of recurrent cough.

GeneXpert for Diagnosis of Tubercular Meningitis.

Diagnosis of tubercular meningitis (TBM) is difficult in children. The GeneXpert MTB/RIF assay has been recommended by WHO in 2013 to be used in children and in extra pulmonary clinical specimens. The present study was designed to assess the diagnostic utility of GeneXpert in detecting Mycobacterium tuberculosis in cerebrospinal fluid (CSF) in TBM cases and to compare the results with liquid culture BACTEC 460. Thirty four subjects <15 y were diagnosed as TBM based on clinical, CSF and imaging details. Sensitivity of GeneXpert in CSF was 38.24 % as compared to Bactec culture which was only 14.71 % (p 0.0279). To conclude, GeneXpert MTB/RIF test is able to rapidly confirm diagnosis of TBM with higher sensitivity as compared to conventional methods and liquid culture.