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Ollier's disease also known as enchondromatosis is a rare skeletal disorder that is usually sporadic, non-hereditary, and characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood with more obvious symptoms, such as deformities or improper limb growth. It carries high risk of skeletal, visceral and brain malignancy seen in approximately 25% of patients. Occurrence of Ollier's disease with myelodysplastic syndrome has never been reported in the literature. The different types of myelodysplastic syndromes are diagnosed based on certain changes in the blood cells and bone marrow characterized by one or more cytopenias despite a relatively hypercellular bone marrow. We hereby report the case of a 14 years boy who presented with painless finger swelling and hepatosplenomegaly. Radiological and bone marrow findings confirmed the diagnosis of Ollier's disease with Refractory Anemia and Excess Blasts (RAEB-1).

Objectives: To compare the performance of paediatric medicine residents following a regular 6 hour and an extended 24 hour call and their own insight into their performance following each duty., Method: The study was conducted at The Children's Hospital, Lahore, from September 2007 to November, 2008. All tasks were performed twice, after 6 hour call and 24 hour long call, evaluating Reaction timer, Concentration test, Number Connection Test, State Trait Anger Anxiety Inventory (STAXI) response for trait anger and modified Wechsler Memory Scale inventory (WMS-R) for cognitive performance. Likert's self assessment tool was used for both set of performances., Result: Thirty two paediatric medicine residents (male 53.1%; female 46.9%) were enrolled in the study with identical duty structure performing 74 hours per week with mean age of 27.53 +/- 0.32 years and mean experience of 3.69 +/- 0.32 years. There was significant deterioration in both verbal recall and logic memory (mean difference in score of 1.81 (95% C.I 1.25-2.37, p < 0.001). Concentration test also showed significantly fewer responses (24 hour mean 239.56, 95% C.I. 228-251.13) vs (6 hour mean 258.94, 95% C.I. 247.42-270.46) in 5 minutes, p < 0.001. Reaction time, vigilance and hand eye coordination was significantly affected after an extended call, p < 0.001. Number of lapses in attention also rose significantly, p < 0.001. STAXI response showed significant increase in anger scores, p = 0.001. Despite the significantly poor performance, the residents could not appreciate the deterioration in their performance with Likert's self assessment score that differed only by 0.63 (95% CI -0.12-1.37), p = 0.1. None of the other factors studied correlated with deterioration in performance of any specific task except the length of duty hours., Conclusion: Continuous long stretch of duty causes significant deterioration in cognitive and behavioural status of residents. More importantly, the residents themselves are unable to appreciate this deterioration. Residents must be made aware of this deterioration as there is a higher risk of medical errors and bad judgments, risking patient safety.

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.

Background: 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., Method: 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., Results: 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 (x2 = 7.49, p = 0.49) followed by PIM 2 (x2 = 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)., Conclusion: 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.

This case report describes an experience of using recombinant enzyme in a child who was diagnosed as a case of Gaucher disease at the age of 3 years. Regular enzyme replacement therapy has resulted in marked improvement in his hemoglobin level, absolute neutrophil count, platelets and physical growth.