Factor XIII deficiency in children--clinical presentation and outcome

OBJECTIVE: To determine the demographic features and clinical outcome of children with Factor XIII deficiency. STUDY DESIGN: Observational case series. PLACE AND DURATION OF STUDY: The Aga Khan University Hospital, Karachi, from January 1996 to December 2006. METHODOLOGY: Records of all hospitalized pediatric patients with discharge diagnosis of FXIII D, on the basis of factor XIII assay 5 mol/L urea test were retrospectively reviewed and abstracted on a pre-specified proforma. Demographic features, coagulation profile, family history and outcomes were noted. RESULTS: A total of 10 charts were reviewed. There were 5 boys and 5 girls. Almost all the children (9/10) were less than 5 years of age, out of whom 5 (50%) were infants, and 3 were neonates. Bruises and prolonged bleeding after trauma was the major presenting complaints in 80%, followed by prolonged bleeding from the umbilical stump in 2 patients. Nine patients had past history of prolonged umbilical bleeding. Two patients had history of FXIII D in siblings, while 2 had history of prolonged bleeding in other family members (cause unknown). Consanguinity was present in 80% of the families. Initial coagulation screen were normal in all patients. Two patients had intracranial hemorrhage, proved on neuro-imaging, were managed with plasma infusions and required craniotomy. The rest were managed conservatively with plasma transfusions. All were discharged alive in good clinical condition. Almost all were followed regularly in clinic with monthly cryoprecipitate transfusions. CONCLUSION: Although factor XIII deficiency is a rare genetic disorder in children with history of bruising, prolonged umbilical bleeding, family history of bleeding and consanguinity with normal initial coagulation screen (PT, APTT and platelets), FXIII D should be ruled out

Use of N-acetylcysteine in children with fulminant hepatic failure caused by acute viral hepatitis

Objective: To determine the efficacy of N-acetylcysteine (NAC) in children aged \u3e 1 month to 16 years admitted with Fulminant Hepatic Failure (FHF) secondary to Acute Viral Hepatitis (AVH) in a tertiary care center of a developing country. Study Design: Analytical study. Place and Duration of Study: Department of Paediatrics, The Aga Khan University Hospital, Karachi, Pakistan, from January 2007 to December 2011. Methodology: Medical records of children (\u3e 1 month - 16 years) with FHF admitted with AVH of known etiology who received NAC were reviewed retrospectively. Liver function tests (mean ± SD) at baseline, 24 hours after NAC and before or at the time of discharge/death were recorded and compared via using repeated measures ANOVA (r-ANOVA). Efficacy of NAC is defined in improvement in biochemical markers, liver function test and discharge disposition (survived or died). Mortality associated risk factors were identified by using logistic regression analysis. P-value and 95% confidence interval were recorded. Results: Forty children (mean age was 80 ± 40 months) with FHF secondary to AVH received NAC. Majority were males (n=25; 63%). Vomiting (75%) and jaundice (65%) were the main presenting symptoms, one-third had hypoglycemic, while 40% had altered sensorium at the time of admission. There was significant statistical difference in liver enzymes and prothrombin time on admission comparing at discharge in children received NAC (p \u3c 0.001). Fifteen (38%) children died. Severe vomiting {Odds Ratio (OR) 0.22, 95% Confidence Interval (CI) 0.05 - 0.8}, jaundice (OR 9.3, CI 1.1 - 82.6), inotropic support (OR 20.6, CI 3.5 - 118.3) and mechanical ventilation (OR 4.3, CI 1.1 - 16.6) at the time of admission are associated with risk factors for mortality in children with FHF secondary to AVH. Conclusion: NAC used in children with FHF secondary to AVH is associated with markedly improved liver function tests and recovery. FHF with complications is high risk for mortalit

Spinal muscular atrophy:clinical spectrum and genetic mutations in Pakistani children

Background: In Pakistan the rate of consanguineous marriages is high, thus, the chance of incidence of autosomal recessive disorders is likely to be high. The aim of this study is to investigate the clinical characteristics and genetics of spinal muscular atrophy (SMA) in children who presented to Aga Khan University, Karachi.Materials and Methods: This study was a retrospective review of the medical charts of children (neonate: 15 years) with discharge diagnosis of SMA during last 10 years. Demographic features, consanguinity, and diagnostic analysis (including genetic analysis) were noted.Results: During the study period 67 children had a discharge diagnosis of SMA. Werdnig Hoffman disease (SMA type I) was the commonest variant seen in 37 (56%) children. Overall 68% were infants. High parental consanguinity was observed in 68% of the study cohort. The history of delayed development and undiagnosed early death was observed in the families of 19 children. Genetic testing was performed in 22 (33%) children. Survival motor neuron (SMN) 1 gene deletion was found in 19 (86%) of the 22 patients in whom the gene analysis was done and 13 (68%) were also positive for neuronal apoptosis inhibitory proteins (NAIP) deletion.Conclusion: SMA is not an uncommon neurodegenerative disorder in Pakistan and SMA type I was the most common type. SMN1 gene deletion was the most common genetic deletion found in this study. In addition, family history of developmental delay and frequent early deaths highlights the need for implementation of prenatal diagnosis for early detection, effective control, and management of this disorder in Pakistan

Congenital bilateral choanal atresi

Congenital choanal atresia (CCA) is the developmental failure of the nasal cavity to communicate with nasopharynx. Surgical repair is recommended in the first weeks of life in bilateral cases because this is a life-threatening situation in newborns. This is a case report of a full-term, healthy newborn baby presenting with intermittent attacks of cyanosis and respiratory distress soon after birth. On examination, alternating cyanosis and normal colour was observed in the infant. The insertion of nasal catheters in both the nares revealed the diagnosis of bilateral CCA. For this rare condition, conservative management was followed with elective transnasal endoscopic repair to relieve the life threatening nasal obstruction at the tenth day of life

Isoniazid induced acute pancreatitis in a young girl

Isoniazid (INH) is the mainstay of management against Mycobacterium tuberculosis. INH-induced acute pancreatitis is an uncommon association and with dearth of literature on it. We are reporting a case of an 11 years old girl who developed acute pancreatitis after 2 weeks of antituberculous therapy. An INH free regimen was started. She was discharged and followed without complications

Mid-upper arm circumference assessment and comparison with weight for length Z-score in infants ≤6 months as an indicator of severe acute malnutrition

Objective: To assess the frequency of severe acute malnutrition (SAM) and to determine the validity of mid-upper arm circumference (MUAC) as compared to weight for length z-score (WLZ-score) as an indicator of the nutritional status in this age group.Methods: A cross-sectional study, with a purposive sampling was conducted from March 2018 to November 2018 to enroll 540 infants ≤6 months of age from three different sites in Karachi, Pakistan. The anthropometric measurements (MUAC, length and weight) were taken by experienced community health workers. The data were analyzed using SPSS. MUAC was compared with WLZ-score for sensitivity and specificity to observe the concordant among the two diagnostic measures. The Youden Index was used to determine the ideal cut-off for infants less than 6 months of age in this population and the Kappa coefficient was also calculated to assess the agreement between MUAC and WLZ-score.Results: The study findings revealed that SAM was found in 13.6% (n=74) of the children. MUAC cut-off ≤11.5 cm yielded the Youden Index of 0.31 with 59.5% sensitivity and 71.4% specificity. The total area under receiver operating characteristic curve was 0.70 (95% CI: 0.63, 0.77; P \u3c 0.001). The degree of agreement between mid-upper arm circumference and weight for length z-score to diagnose SAM ranged from 0.2 to 0.3.Conclusion: The Youden index implied that a MUAC cut-off of ≤11.5 cm can be used as an indicator with acceptable validity for diagnosing SAM in children ≤6 months of age in a low middle income developing country like Pakistan

Clinical spectrum and outcomes of neonatal candidiasis in a tertiary care hospital in Karachi, Pakistan

Introduction: Candidal infections are a serious problem in neonatal intensive care units, increasing morbidity and mortality in low birth weight infants in addition to escalating health-care costs. Studies exploring the epidemiology of candidiasis in developing country hospitals are rare. This retrospective case-control study aimed to evaluate epidemiology and risk factors associated with candidiasis in a neonatal intensive care unit in Karachi, Pakistan. Methodology: Cases (neonates (age \u3c 28days, (n = 45) with NICU discharge diagnosis of candidal sepsis or candidemia between January 1996 and December 2006 were matched with controls (newborns with discharge diagnoses other than the above during the same study period) for gender, gestational age, and admission within 72 hours of admission of an index case. Risk factors were identified and clinical course and outcomes (discharge disposition) described. P-value and match-adjusted odds ratios were calculated. Results: A frequency of 0.9% candidemia was documented in the NICU. The incidence was highest (46%) in VLBW (\u3c 1500gm). C. albicans was the leading causative organism (55%), and neonatal risk factors identified were mechanical ventilation (\u3e 7 days), positive bacterial culture, and duration of hospitalization of \u3e 7 days. Conclusions: Prolonged ventilation, positive bacterial blood culture, and prolonged duration of NICU stay were the major risk factors associated with newborn fungal sepsis in our center. Presence of antenatal care was a significant protective factor in our subset of neonatal population

Pan-resistant Acinetobacter infection in neonates in Karachi, Pakistan.

Background: Pan-resistant Acinetobacter infection has emerged as an important nosocomial pathogen in our inPatient neonates over the past few years. Methodology: We performed a retrospective chart review during a five-year period (July 2003 - June 2008) of all neonates hospitalized in our neonatal intensive care unit (NICU) who developed Acinetobacter infection to identify mortality-associated risk factors in Acinetobacter neonatal infection. Results: During the five-year study period, 122 cultures from 78 neonates grew Acinetobacter. Source sites of positive culture were in the following descending order: blood (n = 57), trachea (n = 55), tissue/wound/body fluids (n = 4), eye (n = 4), urine (n = 1), and cerebrospinal fluid (n = 1). Twenty-four (31%) Patients had Acinetobacter isolated from more than one site. At the time of admission the mean age was 2.08 +/- 4 days and mean weight was 1.77 +/- 0.88 kg, 75% were premature. Pan-resistance (87/122, sensitive only to Polymyxin) was present in 71% of Acinetobacter isolates. Crude mortality rate of this cohort was 47%, while 70% of Patients died within four days after positive Acinetobacter culture. We identified weight of less than 1 kg on admission (p 0.06, adjusted Odds Ratio (AOR) 1.53), gestational age 28 weeks or less (p 0.011, AOR 2.88), poor perfusion (p 0.007, AOR 2.4), thrombocytopenia (p 0.01, AOR 1.6) and metabolic acidosis (p 0.01, AOR 1.67) as predictors associated with poor outcome. Conclusion: Pan-resistant Acinetobacter infection is exceedingly fatal in newborns, particularly in premature and very low-birth weight neonates. Rational antibiotic use and vigilant infection control in NICUs are key to controlling multi-drug resistant Acinetobacter infection and improving clinical outcome