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.

Neonatal Diabetes: A Case Series.

BACKGROUND: Neonatal diabetes mellitusis a rare disorder with an incidence of 1 in 2,60,000 live births. METHODS: Retrospective analysis of clinical and genetic profile of children admitted with neonatal diabetes mellitus in a tertiary-care hospital in Chennai, India over 11 years. RESULTS: Ten children were diagnosed with neonatal diabetes of whom 9 had permanent neonatal diabetes mellitus. The age range at onset was from 3 days- 5 months. Of the 9 children, KCNJ11 gene mutation was positive in one, and ABCC 8 and INS gene mutation in two children each. Children with KCNJ11 and ABCC 8 gene mutations were switched over to oral sulfonyl urea therapy. CONCLUSION: Few genotypes causing NDM can be managed effectively with oral sulfonyl ureas.

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.

Hemophagocytic lymphohistiocytosis masking the diagnosis of lymphoma in an adolescent male.

Hemophagocytic lymphohistiocytosis (HLH) association with an underlying lymphoma is an uncommon entity in paediatrics. It may precede lymphoma diagnosis by several years or may occur at the time of remission or relapse of lymphoma. Simultaneous occurrence of HLH & lymphoma is rare. We here with report a case where HLH was the initial presentation which masked the diagnosis of lymphoma, however tissue biopsy revealed the underlying non-Hodgkin's lymphoma.

Ganciclovir therapy in two immunocompetent infants with severe acquired CMV pneumonitis.

Cytomegalovirus (CMV) infection in immunocompetent hosts is usually benign and does not require antiviral therapy. Rarely, however, it can be severe and life-threatening. Two immunocompetent infants with severe acquired CMV infection are reported who responded dramatically to ganciclovir with no observed side-effects. Ganciclovir should be considered in the rare instance of severe CMV infection in immunocompetent children.

Partial internal biliary diversion: a solution for intractable pruritus in progressive familial intrahepatic cholestasis type 1.

Biliary diversion offers a potential option for intractable pruritus in children with chronic cholestatic disorders. Progressive familial intrahepatic cholestasis (PFIC) is an inherited disorder of impaired bile acid transport and excretion, which presents with jaundice and pruritus in the first few months of life and progresses to cirrhosis by infancy or adolescence. We report a child with PFIC type 1 who underwent internal biliary diversion for intractable pruritus and was relieved of his symptoms.