Balloon valvuloplasty in dysplastic pulmonary valve stenosis: immediate and intermediate outcomes

To determine the immediate and intermediate outcome in dysplastic and doming pulmonary valve stenosis in children and to determine various factors associated with unsuccessful outcome. An interventional study. The Children's Hospital, Lahore, Pakistan, from June 2006 to December 2012. All patients presenting with severe pulmonary valve stenosis were enrolled in the study. Balloon valvuloplasty was performed on all patients. Successful outcome [residual gradient < 36 mmHg] was compared with matched doming pulmonary valve stenosis control group valvuloplasty. Difference in various quantitative variables was calculated using independent t-test and Mann Whitney U test. Categorical variables were compared using Chi square and Kruskal-Wallis test. Multivariate analysis was performed to determine various factors associated with outcome. Kaplan- Meier survival table was used to determine freedom from re-intervention proportions. One hundred and fifty two patients [Dysplastic group A, n=73; Doming group B, n=79] with median age of 24 months [range 3 - 192 months] and M:F; 2:1 were included in the study. Mean gradient decreased from 96 +/- 33 mmHg to 29 +/- 20 mmHg. Group A had significantly higher number of patients with unsuccessful outcome [9.6%, p=0.02]. Preprocedure gradient > 75 mmHg was the most significant factor associated with unsuccessful outcome [p < 0.001]. Median follow-up duration was 3 years [range 1 - 6 years]. Freedom from re-intervention proportion at 1, 3 and 6 years was 91.3%, 86.7% and 78.9% respectively in group A compared to 100%, 96.5% and 96.5% respectively in group B. Immediate postprocedure gradient > 60 mmHg was the only significant factor associated with re-intervention in group A [p=0.001]. The results from balloon valvuloplasty in dysplastic pulmonary valve were suboptimal when compared to doming valves. However, it provides a high freedom from re-intervention rate in intermediate follow-up. Intervention at moderate severity can result in better outcome

Optimal dose of adenosine effective for supraventricular tachycardia in children

To determine the optimal adenosine dose effective in supraventricular tachycardia [SVT] and underlying conditions affecting the effective dose in children. Experimental study. Department of Cardiology, The Children's Hospital and Institute of Child Health, Lahore, from July 2008 to June 2011. All children presenting with SVT were administered adenosine in rapid boluses according to PALS guidelines using incremental doses of 100, 200 and 300 micro g/kg. The response was recorded on 12 lead ECG. Preexcitation was documented and echocardiography performed on all children after attaining sinus rhythm. Mann Whitney test and Kruskal-Wallis test were used as a test of significance to determine any difference in effective adenosine dose between normal heart and various underlying conditions, taking p < 0.05 as significant. Eighty five patients were treated for 110 episodes of SVT with adenosine. M:F ratio was 2.2:1. Their age ranged from 6 days to 14 years with mean age of 27.9 months. Adenosine was effective in reverting 97 episodes of SVT to sinus rhythm [88.2%]. A dose of upto 100 micro g/kg was only effective in 36.4% episodes of SVT. Two hundred micro g/kg was effective in 44.3% of those not responding to 100 micro g/kg dose [n = 31/70, cumulative 64.5%]. A dose of 300 micro g/kg was effective in further 25 patients not responding to lower doses [n = 25/38, 65.8%; cumulative 88.2%]. Mean effective dose of adenosine was 185.3 +/- 81.0 micro g/kg with median effective dose of 200 micro g/kg. Significantly higher dose of adenosine was required in children with underlying pre-excitation, n = 18/97 [220.8 +/- 67.6 micro g/kg vs. 177.2 +/- 81.9 micro g/kg, p = 0.039]. Adenosine is an effective medicine in treating SVT in children. A higher dose of 200 micro g/kg may be used as first bolus particularly in children with pre-excitation

Congenital heart defects associated with atrial heterotaxy

To determine the frequency of various congenital cardiac defects associated with atrial heterotaxy and the difference between spectrum of cardiac defects in right atrial isomerism [RAI] and left atrial isomerism [LAI] in these patients. Cross-sectional observational study. Department of Cardiology, The Children's Hospital and Institute of Child Health, Lahore, from July 2006 to June 2011. All children presenting to the hospital with suspected congenital heart defect were included in the study. Echocardiography based sequential segmental analysis was used, taking atrial symmetry, interrupted inferior vena cava [IVC] and juxtaposed aorta to IVC relation into account for identifying atrial heterotaxy. Various segmental defects were noted for RAI and LAI. Children had atrial heterotaxy [M:F; 1.7:1] with 61.6% [n=82] having LAI. Most common lesions associated with RAI included complete atrioventricular [AV] septal defect [n=48, 94.1%], single AV valve [n=45, 88.2%] and pulmonary outflow tract obstruction [n=41, 80.4%]. LAI was associated with ventricular septal defect [n=68, 82.9%], atrial septal defect [n=63, 76.8%, mostly secundum variety], and miscellaneous left sided obstructive lesions. Atrial heterotaxy encompasses a wide spectrum of congenital cardiac defects. The frequency of various defects associated with RAI or LAI in local South Asian population of Lahore, Pakistan is similar to those as reported in the Western literature

case of polyglandular autoimmune syndrome type I with unusual presentation

Eight years old girl presented with mucocutaneous candidiasis, nail dystrophy, twitching left half of face, progressively increasing generalized skin hyperpigmentation and hypopigmented patches over both shins. Her investigations revealed low intact PTH level, low serum cortisol, high ACTH, impaired glucose tolerance test and candidal onycomycosis. She was diagnosed as Polyglandular Autoimmune Syndrome [PGA] type I. She also developed idiopathic generalized epileptiform seizures and Alcaligenes faecalis septicemia not previously reported with PGA type I. The patient responded well to alphacalcidol, hydrocortisone, valproate sodium, topical antifungal and systemic antibiotic

Socioeconomic status and impact of treatment on families of children with congenital heart disease

To assess the socioeconomic status, treatment being offered and the impact of congenital heart disease treatment on families. Observational study. The Children's Hospital / Institute of Child Health, Lahore, from 1st March to 31[st] August 2010. All patients undergoing a cardiac surgical or angiographic intervention were enrolled. Socioeconomic status was assessed by Kuppuswamy socioeconomic status scale with income group modification. The impact was measured by the source of financing, effect on family financing source and schooling and health of siblings. Of 211 patients undergoing treatment in the study period, surgery was the definitive treatment in 164 [77.7%] and angiographic intervention in 47 [22.3%] patients. Male to female ratio was 1.5:1. The mean age of the patient was 39.1 +/- 3.2 months [range 01 day to 15 years]. Majority of families belonged to middle [66.4%, n=140] and lower [27%, n=57] socioeconomic class. The mean cost of medicines and disposables was PKR 78378.2 +/- 8845.9 [US$ 933.1 +/- 105.3] in open heart surgery, PKR 12581 +/- 7010.8 [US$ 149.8 +/- 83.5] in closed heart surgery and PKR 69091 +/- 60906 in angiographic interventions. In 63.1% patients, families contributed towards these costs either completely [12.3%] or partly [50.8%] with significant contribution from the hospital. Adverse effect on families ranged from leave without pay to losing jobs or business [46%], and selling their assets [11.3%]. It also affected schooling and health of siblings [22.7% and 26.1% respectively]. Majority of children with congenital heart disease belonged to middle and lower socioeconomic status in this study. Main definitive treatment was surgery. The cost of health care facilities posed a marked socioeconomic burden on those families

child with roberts syndrome

Roberts syndrome Is a genetically determined rare birth defect causing, skeletal deformities, particularly symmetrical limb reduction and craniofacial anomalies. For any child with limb and craniofacial bony malformations, this syndrome should be considered in the differentials. Although this syndrome represents only a small proportion of the total number of individuals with limb deficiency, it is important to be identified in order to give accurate genetic counselling including recurrence risk in siblings and possible prenatal diagnosis. This is the case report of a 22 days old male infant who presented with defective development of all four extremities and craniofacial abnormalities. The overall clinical and radiological features were suggestive of Roberts syndrome

neonate with Poland-Mobius syndrome

Poland-Mobius syndrome is a combination of two rare congenital syndromes characterized by congenital facial weakness, loss of abduction of eyes, limb defects, and absence or hypoplasia of the pectoral muscles. A patient with features of both the Mobius syndrome and the Poland syndrome is presented in this case report

Predictors of clinical course of subacute sclerosing panencephalitis: experience at the children's hospital, Lahore

To determine the clinical course of Subacute Sclerosing Panencephalitis [SSPE] and different factors affecting the clinical course. Descriptive study. The Children's Hospital, Lahore, from October 2005 to May 2008. All serologically confirmed patients of SSPE were registered and clinical staging of these patients were done from stage-I to stage-IV. Clinical course of these patients was classified by using neurological disability index as fulminant, acute, subacute, and chronic course. Clinical course was analyzed for any difference with age, gender, immunization for measles, measles infection, nutritional status and correlation with age of onset of SSPE, [Spearman's correlation], using statistic package for social science [SPSS] V. 14. A total of 57 cases [41 males, 16 females] with mean age of 7.45 years were studied. Forty [71.4%] of them were vaccinated with single dose at about 9 months of age, 41% [23/57] had measles infections 2 years of age. Using the Neurology Disability Index for these patients 10.5% had fulminant, 17.5% had acute, 49.2% subacute and 22.8% had chronic course. Age, gender, age at measles infection, SSPE onset age and nutritional status were poor predictors of clinical course of SSPE. Unvaccinated patients showed significantly more rapid course of disease [p = 0.04]. Clinical course of SSPE cannot be predicted at the onset of this catastrophic disorder. Children not immunized against measles had a significant rapid course of disease

Relationship of joint hypermobility and musculoskeletal problems and frequency of benign joint hypermobility syndrome in children

The majority of individuals with joint hypermobility remain asymptomatic. However, those associated with Benign Joint Hypermobility Syndrome [BJHS], develop a number of systemic manifestations. Our objective was to determine the relationship between joint hypermobility and musculoskeletal problems, and frequency of BJHS in children and adolescents. This crosssectional observational descriptive study was conducted at Outpatient Department, The Children's Hospital, Lahore, Pakistan. A total of 872 individuals [4-18 year] were examined for hypermobile joints using Beighton score >/= 4. A questionnaire was implied to get data regarding demographic profile, musculoskeletal and extra-articular complaints, family history of joint problems and daily activity. Brighton's criteria were implied for diagnosis of BJHS. The frequency of joint hypermobility was 37.0%; male 39.5%, and female 34.2% [p=0.1]. There was a gradual decline in mean Beighton score with age. The female population showed increase in mean Beighton score around 16-17 year age. Arthralgias and back pains 7.7% vs. 1.6%, [p<0.001], and hernias 2.5% [p=0.03] were significantly higher in individuals with joint hypermobility. History of joint problems in the family was also significantly higher in children with joint hypermobility [p=0.01]. BJHS was detected in 4.8% children [male 3.6% and female 6.3%, p=0.06]. Arthralgias [51.0%], hernias [16.3%], joint dislocations [8.2%] and varicose veins [8.2%] were the most common presentations. BJHS is common among children. Arthralgias, back pains and hernias are significantly higher in these individuals

Disproportionate short stature with multisystem involvement - Ellis-van Creveld syndrome

Ellis-van Creveld syndrome is a rare form of mesenchymal - ectodermal dysplasia. It is an autosomal recessive disorder characterized by disproportionate short stature, postaxial polydactyly, ectodermal dysplasia and congenital heart defect. This case report presents two cases with classical clinical findings along with some unusual features including rhizomelic limb shortening, global developmental delay and bilateral lens subluxation not reported previously

Comparison of three prognostic scores [PRISM, PELOD and PIM 2] at pediatric intensive care unit under Pakistani circumstances

To compare the performance of the Pediatric Risk of Mortality [PRISM], the Pediatric Index of Mortality 2 [PIM 2] and Pediatric Logistic Organ Dysfunction [PELOD] scores at general pediatric intensive care unit in a developing country setting, investigating the relation between observed and predicted mortality. A contemporary cohort study was undertaken at Pediatric Intensive Care Unit [PICU], Children's Hospital, Institute of Child Health, Lahore, Pakistan. 131 consecutive admissions fulfilling the inclusion criteria were enrolled in the study. PRISM, PIM 2 and PELOD calculations were performed as set out by original articles, using the published formulae. Statistical analysis included Standardized Mortality Rate [SMR], Hosmer Lemeshow goodness of fit test, receiver operating curve [ROC] characteristics and Spearman's correlation test. 139 patients were admitted to PICU. 38 presented exclusion criteria. 29 [28.7%] patients died. Estimated mortality was; PRISM: 19.7[19.5%], PIM: 21.01[20.5%] and PELOD: 18.4[18.3%]. SMR was 1.47 [SD +/- 0.19], 1.4 [SD +/- 0.19] and 1.57 [SD +/- 0.19], respectively. PRISM had better calibration [x[2] = 7.49, p = 0.49] followed by PIM 2 [x[2] = 9.65, p = 0.29]. PIM 2 showed best discrimination with area under ROC = 0.88 [0.81-0.94] followed by PRISM 0.78 [0.67-0.89] and PELOD 0.77 [0.68-0.87]. Spearman's correlation r between PRISM and PIM 2 returned 0.74 [p < 0.001]. PRISM as well as PIM 2 is validated for PICU setting in Pakistani circumstances. PELOD performed poorly. PIM 2 has advantages over PRISM for stratification of patients in clinical trials