Correction to: Clinical Spectrum of Inherited Disorders of Metabolism.

In Introduction, 4th line "In India, the reported prevalance of IEM is 1 in 2497 newborns [2] although the true pan India prevalence still remains unknown [3]".

Clinical Spectrum of Inherited Disorders of Metabolism.

OBJECTIVE: To study the clinical profile and outcome of children with Inborn errors of metabolism. METHODS: Thirty one newly diagnosed children with Inborn errors of metabolism over a 1 y period were studied for their relevant clinical, biochemical, diagnosis, treatment and follow-up details. RESULTS: Inborn errors of metabolism accounted for 2% of hospital admissions. Sixty five percent were born to parents of consanguineous marriage. Of the 31 children with Inborn errors of metabolism, 16 (51%) had lysosomal storage disorders, 8 (26%) had disorders of amino acid metabolism, 2 (6%) each had disorders of carbohydrate and bile acid metabolism, 1 (3%) each had disorders of fatty acid oxidation, mitochondrial and peroxisome metabolism. Acrodermatitis dysmetabolica, as a complication was observed in one child and the overall mortality rate in this series was 10%. CONCLUSIONS: Lysosomal storage disorders constituted the majority of Inborn errors of metabolism in this series and amino acidopathies/organic acidemias were successfully treated with special formulas.

Bone Mineral Content and Density in Indian Children with Congenital Adrenal Hyperplasia.

OBJECTIVE: To study the bone mineral content and density in children with congenital adrenal hyperplasia (CAH). METHODS: 35 children with congenital adrenal hyperplasia and 35 healthy controls. Bone mineral content and density were studied by Dual Energy X-ray absorptiometry. RESULTS: The mean (SD) of lumbar spine bone mineral density (g/cm2) [0.590 (0.100) vs 0.589 (0.088) (P=0.97)], total Body less head bone mineral density (g/cm2) [0.536 (0.090) vs 0.548 (0.111) (P=0.64)], lumbar spine bone mineral content (g) [29.85 (27.63) vs 31.03 (29.19) (P=0.86)], and total body less head bone mineral content (g) [254.27 (281.25) vs 273.07 (330.71) (P=0.79)] were not different between children with CAH and controls, respectively. CONCLUSIONS: Bone mineral density and content in children with congenital adrenal hyperplasia are maintained in the normal range.

Clinical profile and outcome of children with scrub typhus from Chennai, South India.

Scrub typhus is an acute febrile illness caused by Orientia tsutsugamushi. We prospectively studied the clinico-laboratory profile and outcome of 358 children aged 1 day to 18 years diagnosed with scrub typhus from Chennai, South India. All children (100%) had fever. Eschar was seen in 67%. All children were treated with oral doxycycline and those with complications were treated with intravenous chloramphenicol/azithromycin. Rapid defervescence (within 48 h) after initiation of doxycline was seen in 306 (85%) and 52 (14.5%) developed complications. Multivariate logistic regression analysis revealed that children who had an elevated aspartate amino transferase (> 120 IU/L) and the presence of thrombocytopenia (platelet count less than 1 lac cells/mm3) at admission had high risk of developing complications. The overall mortality rate in this series was 0.8%. CONCLUSION: Our 4-year study highlights the clinico-laboratory profile of Scrub typhus in children from Chennai, South India. Early recognition and prompt treatment reduces the complication and mortality. What is Known: • Scrub typhus is endemic to tsutsugamushi triangle, a geographical triangle extending from northern Japan in the east to Pakistan and Afghanistan in the west and northern Australia in the south. • There is paucity of data regarding its clinico-laboratory profile in neonates as well as its predictors of outcome. What is New: • Children who had an elevated AST and the presence of thrombocytopenia at admission had high risk of developing complications.

Nasopharyngeal aspirate & blood cytokine profile in infants hospitalized for respiratory syncytial virus bronchiolitis: A pilot study from south India.

BACKGROUND & OBJECTIVES: Following a respiratory syncytial virus (RSV) bronchiolitis, only some infants develop serious illness, and a proportion of them develop recurrent wheeze subsequently. Studies have revealed that cytokine expression following RSV infection may influence the severity and also the risk for subsequent reactive airway disease. This present study was conducted to determine the blood, and nasopharyngeal aspirate (NPA) cytokine profile among infants admitted for RSV bronchiolitis. METHODS: In this prospective pilot study, a sample size of 15 cases and 15 controls was included. Detailed history, physical examination, blood sample and NPA collection were done. Cytokines (IFNγ and IL-4) estimation was done in the blood and NPA samples of cases and blood samples of controls. RESULTS: The mean levels of interferon gamma in controls (blood) and cases (NPA and blood) were 5.95, 9.54 and 32.02 pg/ml, respectively. The mean levels of interleukin-4 in controls (blood), and cases (NPA and blood) were 1280.77, 956.08 and 692.37 pg/ml, respectively (P<0.05). INTERPRETATION & CONCLUSIONS: Our study showed that infants with RSV bronchiolitis evoked a Th1 response in both blood and NPA. Large multicentre studies are needed to validate our findings.

Correlation of Bone Mineral Parameters with Anthropometric Measurements and the Effect of Glucocorticoids on Bone Mineral Parameters in Congenital Adrenal Hyperplasia.

OBJECTIVE: To correlate the bone mineral parameters [bone mineral content (BMC) and bone mineral density (BMD)] using Dual energy X ray Absorptiometry (DXA) scan with anthropometric measurements and to study the effect of glucocorticoid therapy on BMC/BMD in children with Congenital adrenal hyperplasia (CAH). METHODS: A cross-sectional study was carried out in the Pediatric Endocrinology unit from January 2012 through March 2013 at Kanchi Kamakoti CHILDS Trust hospital, Chennai. Thirteen CAH children aged 0-132 mo with classic salt wasting due to 21 hydroxylase deficiency were included in the study. All children were treated with T.hydrocortisone @10-15 mg/m(2)/d twice daily and T. fludrocortisone 50 µg once daily orally at the time of enrollment into the study. The duration of glucocorticoid (hydrocortisone) treatment from the date of diagnosis till the time of enrollment into the study was noted and categorized as children receiving < 5 and > 5 y of glucocorticoid therapy. None received Vitamin D/calcium supplementation at the time of enrollment. BMC and areal BMD for the lumbar spine and total body less head (TBLH) were measured with Lunar DXA machine. RESULTS: The mean height, weight and BMI of children were 87.3 ± 33 cm, 13.49 ± 11.2 kg and 14 ± 4.07 kg/m(2) respectively. TBLH BMC was 369.14 ± 312.18 g and TBLH BMD was 0.63 ± 0.11 g/cm(2). There was a significant correlation between height and total body less head BMC/BMD in the index series [P < 0.05, significant]. The TBLH and spine BMD were also assessed with regards to the duration of glucocorticoid therapy and it has been observed that TBLH and spine BMD decreased with increased duration of steroid therapy (p < 0.05, significant). CONCLUSIONS: In the absence of normative data or z scores, BMC/BMD correlates well with height for age. Children who received more than 5 y of glucocorticoid treatment had lower TBLH and spine BMD scores and hence, calcium and Vitamin D supplementation should be considered.

Profile of typhoid fever in children from a tertiary care hospital in Chennai-South India.

AIM: To study the clinical profile and outcome of hospitalized children with typhoid fever. MATERIALS AND METHODS: A retrospective study was conducted in a private tertiary care children's hospital over a 3 year period. RESULTS: A total of 316 children (7 in every 1000 admissions) were diagnosed to have typhoid fever during this period. More than one third were aged between 5 and 10 years and most cases (38%) clustered around the months of January to April. Around 59% of children in our series were unimmunised against typhoid. Eosinopenia was seen in 72 %. There was a significant increase in NARST (p < 0.001). Predictors of severity in this study were increased AST levels, eosinopenia and isolation of NARST. CONCLUSION: Public health interventions to minimize human carrier contact, improved personal hygienic measures including health care behavior strategies, typhoid vaccination and rational antibiotic selection based on sensitivity pattern to prevent resistance will help to reduce the morbidity and mortality of this global health problem.

Congenital hypoaldosteronism.

Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17 hydroxy progesterone and cortisol. A decreased serum aldosterone and serum 18 hydroxy corticosterone levels with a low 18 hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. She was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes. Further molecular analysis is needed to ascertain the precise nature of the mutation.

Serum zinc levels in children with simple febrile seizure.

A prospective case-control study was conducted in a major tertiary care hospital for children during June 2005 to May 2006 on children aged between 3 months and 5 years to compare serum zinc levels in 38 cases of simple febrile seizure and 38 age-matched controls. The mean serum zinc levels in cases and controls were 32.17 and 87.6 microg/dL, respectively. This difference was statistically significant ( P < .001). We conclude that Indian children with febrile seizure had low serum zinc levels, and zinc supplementation to reduce the incidence of febrile seizure should be investigated.

Transient methemoglobinemia in an infant.

We report a case of transient methemoglobinemia in an infant due to gastroenteritis. Methemoglobinemia should be suspected in infants with a history of diarrhea and cyanosis that is out of proportion to the history and clinical examination. Methemoglobinemia can be life threatening, but outcome is good when treated with IV methylene blue.

Interstitial lung disease in infancy.

OBJECTIVE: To describe the clinical profile of interstitial lung disease in infancy. METHODS: A retrospective analysis of cases diagnosed to have ILD was carried out in Kanchi Kamakoti CHILDS Trust hospital over a period of 2 yr. Infants aged 1 month to 1 yr of age were included if they had (1) respiratory symptoms (Cough, tachypnea or crepitations) for at least 1 month (2) diffuse infiltrates on chest radiography (3) Hypoxemia as defined by oxygen saturation less than 90% by pulse oximetry and (4) High Resolution Computed Tomography (HRCT) of the chest revealing findings of interstitial infiltrates or ground glass pattern. Their case records were analyzed for clinical data, treatment and follow up details. RESULTS: Of the 9 children, who were diagnosed to have ILD, 5 were boys and 4 were girls. The male: female ratio was 1.25: 1. The median age of onset of symptoms was 5 month. The common clinical features observed were tachypnea associated with chest indrawing (100%), cough (100%), hypoxia (100%), failure to thrive and fever (55%) each. The following radiographic patterns were observed in the chest skiagrams: reticulo-nodular pattern in 6(67%) and ground glass pattern in 3(33%). HRCT showed interstitial infiltrates in 6 (67%) and ground glass pattern in 3(33%). Evidence for cyto megalo virus (CMV) infection was detected in 5(56%), Adenovirus in 1 (11%) and Pneumocystis carinii (PCP) in 1(11%) infant. Open lung biopsy was performed in 2 infants, which detected CMV in 1 and PCP in the other. All children received oxygen therapy and systemic corticosteroids (oral/IV) in addition to specific therapy for infection and 3 of these infants succumbed to respiratory failure. CONCLUSION: CMV Infection was the commonest cause of ILD in infancy in our study. However, the consequences on long term follow up in these infants need to be ascertained.

Neonatal Bartter syndrome.

Bartter syndrome is an inherited renal tubular disorder with hypokalemia, hypochloremic metabolic alkalosis, normal blood pressure with hyper-reninemia and increased urinary loss of sodium, potassium and chloride. We report an infant with neonatal Bartter syndrome, who improved with potassium supplements.

A reappraisal of the criteria to diagnose plasma leakage in dengue hemorrhagic fever.

A study was undertaken to analyze the usefulness of radiographic and ultrasonographic findings and area specific hematocrit cut off values in Dengue Hemorrhagic Fever (DHF). Of the 65 cases, 35 were DHF and 30 were Dengue Fever as per the WHO case definition. Among the DHF cases, hemoconcentration (>20%) was detected in 20 cases (57.14%), hypoproteinemia in 11 (31.42%) and clinical evidence of pleural effusion and or ascites in 25 (71.42%). Hemoconcentration based on area specific hematocrit cut off values was observed in 32 cases (91.42%). Ultrasonographic evidence of plasma leakage was seen in 32 cases (91.42%). In detecting plasma leakage, area specific hematocrit cut off values and ultrasonography had the highest sensitivity (91.42%), while ultrasonography had the highest negative predictive value of 84.21%. Clinical evidence of plasma leakage was more frequent than hemoconcentration or hypoproteinuria. Ultrasonography is an ideal non-invasive investigation to detect plasma leakage and area specific hematocrit values are useful as evidence of plasma leakage.

Richner Hanhart syndrome.

Richner Hanhart syndrome is a rare inherited disorder involving the metabolism of tyrosine, a semi-essential amino acid and it should be considered in the differential diagnosis of a child presenting with ocular and skin lesions. We report a case of Richner Hanhart syndrome in a 19-month-old child, who presented with ocular and skin lesions.

Pediatric Advanced Life Support (PALS): the current guidelines.

Every 5 years the American Heart Association (AHA) updates the Guidelines for CPR and Emergency Cardiovascular Care (ECC). The ECC Guidelines 2000 incorporates all the current consensus of experts, from not only a variety of disciplines, but also a variety of countries and cultures and is evidence based. The new Guidelines emphasize interventions to reduce the risk of sudden deaths, early identification of respiratory failure and shock and implementation of Advanced Life Support (ALS) to treat respiratory and cardiac arrest.