A Novel Presentation of Metaphyseal Chondrodysplasia, Schmid Type with Factor VII Deficiency.

Metaphyseal chondrodysplasia, Schmid type (MDSC) is a rare inherited autosomal disorder with characteristic skeletal deformities striking on radiological imaging, which includes metaphyseal cupping and fraying. Physical examination reveals short stature in early childhood, frontoparietal bossing, rachitic rosary, genu varum and valgum, and coxa vara usually. We believe that the constellation of clinical and radiographic findings of MDSC might look similar to vitamin D resistant rickets; hence, genetic analysis is needed to overcome diagnostic challenges faced by physicians to avoid unnecessary vitamin D supplementation in individuals. We report the first case of MDSC with a coexisting factor VII deficiency in an eight-year-old boy.

Frequency and Associated Factors of Parental Refusal to Perform Lumbar Puncture in Children with Suspected Central Nervous System Infection: A Cross-sectional Study.

Objective Lumbar puncture (LP) is a useful procedure which is performed for both diagnosis and treatment of numerous conditions affecting children and adults. The purpose of this study was to determine the frequency and cause of increased parental refusal to perform LP in the pediatric population. Method A cross-sectional study was conducted from January 2018 to June 2019 at the Civil Hospital, Dow University of Health Sciences, pediatric department, Civil Hospital, Karachi. Over the 18-month time period, a total of 215 patients who had indications of LP were selected from the in-patient pediatrics department; the age range was between newborn to 12 years of age. The mode of research was a questionnaire and interview-based method that was conducted with guardians of minor patients to understand the extent of their knowledge and awareness about the LP procedure as well as its complication and the role of culture, education background, and financial status of the families which may lead to an increased likelihood of refusal. Result The frequency of LP refusal amongst the 215 families of the patients that were interviewed was found to be 32.6%. Mean age of the respondents was 30.98 years. The decision for LP was not significantly affected by the subjects' gender (p=0.1), by the religious communities to which the families belonged (p=0.9), their ethnicities (0.52), or by the families' financial status (p=0.4). It was observed that when indications for performing LP were appropriately explained, there was a significantly greater number of consents given as compared to when they were not made clear (p=0.009). Explaining the complications of the procedure did not considerably impact the decision for refusal of the procedure (p=0.1). The multi-variable logistic regression analysis model was applied to determine the likelihood of variables affecting refusal of LP and the logistic regression model was found to be statistically significant, χ2 (8) = 38.2 p < 0. 001. Conclusion Lack of knowledge about the LP procedure and fear of ramification plays a conspicuous role in the denial of LP procedure by the guardians of minor patients. A better, simpler approach using standardized consent forms by the doctors may lead to the removal of the information gaps and can provide a better understanding about the concerned risks, the primary indications, and the benefits of this procedure to the guardians.

Hereditary Hemorrhagic Telangiectasia - Early Childhood Presentation with Hepatic Failure.

Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia in which capillary bed is absent with direct draining of arterial blood into venous circulation. Due to increased pressure there is increased risk of bleeding. The classical triad consists of telangiectasias, epistaxis and a positive family history. This defect can involve any organ system, especially lungs, brain and liver; but hepatic vascular malformations in HHT usually remain silent until fifth or sixth decade of life. However, if symptomatic, it usually results in only mild liver dysfunction in adults. Herein, we report a rare case showing extensive hepatic involvement in HHT leading to hepatic failure at a younger age. Hepatic screening is traditionally not recommended at early age while pulmonary and cerebral screening must be done. Based on this case, we recommend hepatic screening even in a young patient with HHT.

Spectrum of histopathological diagnosis in paediatric patients with liver disorders in Pakistan.

OBJECTIVE: To document spectrum of paediatric liver disorders confirmed on liver biopsy. METHODS: The retrospective review of patients was conducted at Shifa International Hospital, Islamabad, Pakistan, and comprised data of all children who underwent ultrasound-guided percutaneous liver biopsy between December 2008 and June 2015. Frequency of individual diagnosis was assessed and compared on gender basis. SPSS 16 was used for statistical analysis. RESULTS: There were medical records of 74 patients in the study with an overall median age of 6.9 years (interquartile range: 0.2-17.7 years). Metabolic 27(36.5%) and inflammatory 19(25.6%) disorders were the most common aetiologies. At presentation 29(39.1%) patients had cirrhosis; and 25(34%) children were <5 years of age. Metabolic disorders were the most common aetiology in children upto 10 years of age with 19(25.6%) patients. Above the age of 10 years, inflammatory disorders were more frequent and were seen in 10(13.5%). Based on gender, a trend towards significance was observed for metabolic disorders (p=0.08) and children who presented with cirrhosis (p= 0.07), but it was not statistically significant. CONCLUSIONS: Metabolic disorders were the most common cause of liver disorders. A number of children at presentation had underlying cirrhosis.

Paediatric Living Donor Liver Transplantation: ASingle Centre Experience from Pakistan.

OBJECTIVE: To determine the outcomes of paediatric living donor liver transplantation (LDLT) recipients from Pakistan in terms of 90-day morbidity and mortality. STUDY DESIGN: Cohort study. PLACE AND DURATION OF STUDY: Shifa International Hospital, Islamabad, Pakistan, between April 2012 and April 2015. METHODOLOGY: All patients in paediatric age group (≤ 17 years) who underwent LDLT with a minimum follow-up of 3 months, were included. All grade 2 and above complications on Clavien-Dindo system were included as morbidity. The main outcome measure was 90-day morbidity and mortality. RESULTS: Fourteen paediatric LDLTs were performed. Median age of the recipients was 8.5 years ranging between 6 months and 17 years. Wilson's disease and cryptogenic cirrhosis were the most common etiologies (28.6% each). Acute liver failure was present in 5 (35.7%) patients. Overall 90-day morbidity and mortality was 71.4% and 14.2%; both were attributable to pulmonary infection. No difference was observed in morbidity (21.3% vs. 42.8%, p=0.3) and mortality rates (20% vs. 11%, p=1.0) between patients with acute and chronic liver failure. Estimated 3-year survival was 85%. CONCLUSION: Paediatric LDLT offers a promising treatment option for acute and chronic liver failure. Mortality was attributable to post-transplant pulmonary infections.

Auxiliary partial orthotopic liver transplant for Criggler-Najjar Syndrome: Report of 2 cases from Pakistan.

Auxiliary partial orthotopic liver transplant (APOLT) is a treatment option for certain liver disorders where liver structure is preserved. It includes Criggler Najjar syndrome (CNS), urea cycle defects and familial hypercholesterolaemia. Liver transplant as a treatment modality has only recently become available in Pakistan. Here we report two paediatric cases of CNS type 1 where auxiliary liver transplant was performed to correct jaundice and prevent inevitable brain damage. Both recipients and their respective living donors had successful surgery and are doing well.