Evaluation of symptoms & spirometry in children treated for asthma.

Background & objectives: Spirometry plays an important role in the assessment and long term monitoring of patients with asthma. Difficulty in performing spirometry in children has resulted in a paucity of Indian studies using spirometry regularly for research in the paediatric population. This study was undertaken to assess the clinical improvement and changes in spirometric measurements with treatment in children with newly diagnosed asthma and to compare the changes in the symptom score and spirometric measurements. Methods: This prospective study included 32 children between 6 to 12 yr of age (enrolled over a period of one year with follow up of six months) who were newly diagnosed as cases of asthma on the basis of symptoms and medical history. Baseline symptom score and spirometric measurements were determined at the first visit. The children were treated and followed up at six weeks, three and six months of initiating treatment. Symptom score and spirometric measurements were repeated at every visit. Results: Significant improvement in symptom score was evident at six weeks of therapy (P<0.05) while the lung function parameters FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) showed significant improvement at three months of therapy. Peak expiratory flow rate (PEFR) was found to improve at six months. There was a positive linear correlation between the changes in symptom score and FEV1, FVC and PEFR with treatment. Interpretation & conclusions: Symptomatic improvement became apparent before the improvement in spirometric parameters in children with asthma (after treatment initiation).

Fanconi anemia: in all its glory.

Fanconi Anemia (FA) is a rare autosomal recessive disorder affecting multiple body systems. The diagnosis is based on morphological abnormalities, hematological abnormalities (pancytopenia, macrocytic anemia & progressive bone marrow failure) and genetic testing. However, genetic testing is complicated for FA because there are often many genes that are associated with its development, and large duplications, deletions or sequence variations are frequently observed in some of these genes. We report a patient with cytogenetically confirmed Fanconi anemia. Although morphological abnormalities were present from birth, diagnosis was suspected and made at 8 years of age when he presented to us. We report this case to create awareness among clinicians to use modern modalities of diagnosis for such cases in addition to the clinical assessment. This would further help these children reach their adulthood with good quality of life.

Osteogenesis imperfecta: an atypical association.

Osteogenesis Imperfecta (OI) also known as ‘brittle bone disease’, is a clinically heterogeneous connective tissue disorder with defect in type I collagen. The more prevalent autosomal dominant forms of OI are caused by primary defects in type I collagen, while autosomal recessive forms are caused by deficiency of proteins which interact with type I procollagen for post-translational modification and/or folding. Few cases of OI associated with atypical features have been reported. We report a case of 54 days male child of OI associated with pyloric stenosis. The case probably is a form of autosomal recessive OI with severe phenotype.

Novel Biochemical Abnormalities and Genotype in Farber Disease.

We present five cases of paediatric Scrub typhus from Community Health Centre, Namchi, South Sikkim emphasize timely diagnosis of scrub typhus for appropriate management. Response to doxycycline was good, with fever subsiding within 48-72 hrs of starting the treatment. Four out of five cases completely recovered once appropriate medication was given.

Performance of PRISM (pediatric risk of mortality) score and PIM (pediatric index of mortality) score in a tertiary care pediatric ICU.

Objective. To validate Pediatric Risk of Mortality (PRISM) and Pediatric Index of Mortality (PIM) score. Methods. All consecutive patients over a six month period were included in the study except patients with a PICU stay of less than 2 hours, those transferred to other PICUs, pediatric surgical cases, trauma patients and those dying within 24 hours of admission. The PRISM and PIM scores of all patients included in the study were computed and the outcome was noted in terms of survival or non-survival. Mortality discrimination was quantified by calculating the area under the receiver operating characteristic (ROC) curve. Hosmer and Lemeshow goodness-of-fit test was used to calibrate the scores. Results. Two hundred and thirty patients were enrolled with mean age of 40.6 months and male to female ratio of 1.2:1. There were 56 deaths (mortality rate 24.3%). The mortality in infants was higher (37.8 %) as compared to non-infants (16.2 %) (p = 0.011). The predicted deaths with PRISM score was 24.3%. The area under the ROC curve was 0.851 (95% CI 0.790 – 0.912). The Hosmer and Lemeshow goodness-of-fit test showed good calibration (p=0.627, chi square =1.75, degree of freedom = 3). The predicted deaths with the PIM score was 7.38%. The area under the ROC curve for PIM score was 0.838 (95 % CI 0.776- 0.899). The Hosmer and Lemeshow goodness-of-fit showed a poor calibration for PIM score (p = 0.0281, chisquare = 10.866, degree of freedom = 4). Conclusion. Both PRISM and PIM scores have a good discriminatory performance. The calibration with PRISM score is good but the PIM score displays poor calibration.

Kocher-debre-semelaigne syndrome with pericardial effusion.

We report a 10-year-old female child with hypothyroidism and limb muscle pseudohypertrophy (i.e. Kocher-Debre-Semelaigne syndrome) with pericardial effusion. The child presented with generalized swelling, breathlessness and difficulty in walking and in getting up from sitting position (of chronic duration). She had bradycardia, dull facies, marked hypertrophy of both calf muscles and nonpitting edema of legs. Pericardial effusion was detected clinically and confirmed on investigations. Muscle pseudohypertrophy was a striking feature and hypothyroidism was confirmed on thyroid studies. The response to thyroxine replacement was excellent, with resolution of the pericardial effusion and clinical improvement. The unusual presence of pericardial effusion in Kocher-Debre-Semelaigne syndrome is discussed in the report.

Pulmonary endarteritis.

Pulmonary arterial endarteritis is a rare event even in patients with congenital heart disease. In this paper, the authors report two cases of pulmonary endarteritis diagnosed at autopsy. The first was a 3-month-old male infant with absence of congenital heart defect (who had had neonatal sepsis). This patient presented with pneumonia and succumbed within 36 hours of hospital stay despite appropriate antimicrobial therapy and supportive management. The second patient was a 13-month-old male child with previously undiagnosed tetralogy of Fallot who had clinical presentation of acute meningitis with convulsions and succumbed within 12 hours of hospital stay despite adequate treatment. The main autopsy findings were chronic arteritis of the pulmonary trunk and right pulmonary artery in the former and rupture of the pulmonary trunk in the latter.

Incomplete monosymptomatic leptomeningeal angiomatosis.

Phakomatoses or neurocutaneous syndromes are an important cause of seizures in the pediatric age group. The Sturge-Weber syndrome may affect the eye, skin and brain at different times. The skin lesions need not always manifest. We report a case of isolated affection of the central nervous system in a case of Sturge-Weber syndrome in the absence of ocular or cutaneous manifestations. Our case qualifies to be called incomplete monosymptomatic leptomeningeal angiomatosis.