Serious complications of an obstructive upper airway infection in a young child

A 15-month old boy was admitted to our intensive care unit (ICU) cyanotic, unresponsive, apneic, pulseless, with fixed, dilated pupils and a Glasgow Coma Score (GCS) of 3/15. Prompt cardiopulmonary resuscitation (CPR) was initiated and cardiac function was resumed after 10 minutes. The boy was intubated but could not be ventilated because of a thick, viscous secretion obstructing the trachea and causing total airway obstruction. Bronchoscopy revealed laryngotracheitis as the reason for airway obstruction. A computed tomography (CT) scan of the brain showed diffuse edema and ischemic brain injury, which were considered responsible for the boy\u27s comatose situation. Clinical status remained unchanged for 11 days, after which the boy was transported to another hospital. In children presenting with upper airway obstructing syndromes, not responding to therapy, the diagnosis of bacterial tracheitis should be considered and the child should be monitored in a pediatric intensive care unit

Familial Hemophagocytic Lymphohistiocytosis in a 6-Week-Old Male Infant

Familial hemophagocytic lymphohistiocytosis (FLH) is an autosomal recessively inherited multisystem disease. This defect in cellular cytotoxicity is a life threatening condition characterized by fever, rash, splenomegaly, cytopenias and neurologic manifestations. PRF1, UNC13D and STX11 gene defects underlie in about 40–50% of primary cases. Chemoimmunotherapy followed by hematopoietic stem cell transplantation improved disease outcome. We report a case of a 6-week-old boy who presented with a fever, diffuse rash, disseminated intravascular coagulation, hypofibrinogenemia, hypertrigliceridemia, hepatosplenomegaly, leukocytosis with 90% of lymphocytes, granulocytopenia, anemia, trombocytopenia, hyperferritinemia and pathological findings in cerebrospinal fluid. The patient had decreased frequency of NK cells and low NK cell activity in peripheral blood. Bone marrow aspiration analysis showed degenerative changes of histocyte cells, with preserved cytophages (lymphophages and erythrophages) consistent with hematophagocytic syndrome. Given that the molecular diagnosis of the known mutations in genes PRF1 and UNC13D showed a mutation in UNC13D, the diagnosis of familial hemophagocytic lymphohistiocytosis subtype 3 was established. HLH-2004 chemotherapy protocol was performed and partial remission with residual central nervous system disease was achieved. Hematopoietic stem cell transplantation was successfully performed with an unrelated HLA-matched donor. Familiar HLH is generaly a progressive and fatal disease. Early diagnosis with molecular genetic analysis and chemoimmunotherapy followed by hematopoietic stem-cell transplantation is the best approach

Pseudokolinesteraza i pokazatelji oksidacijskoga stresa u djece s tumorskom bolešću u središnjem živčanom sustavu

The aim of the study is to determine the activity of pseudocholinesterase (PChE) in serum and cerebrospinal fluid (CSF) and oxydative stress enzymes superoxide dismutase (SOD), catalase (CAT) and glutation peroxidase (GPx) in CSF and blood in children with solid central nervous system (CNS) tumor and to assess whether PChE activity and SOD, CAT and GPx could be a valid biomarker for solid CNS tumors in children. One of the final products of lipid peroxidation is malodialdehide (MDA) was determined too. Methods: The study and control group included 30 children each. Children in the study group had a solid CNS tumor, while those from the control group had never suffered from any tumor diseases. CSF and blood samples were collected from all participants. PChE activity was determined using the Ellman’s spectrophotometric method. GPx, SOD and CAT activity were measured spectrophotometrically; MDA with HPLC method. PChE activity in CSF was shown as a cerebrospinal fluid/serum ratio expressed in percentage, ie, PChE CSF/serum ratio. Receiver operating characteristic (ROC) curve was used to assess whether PChE activity, SOD, CAT and GPx can be used as a biomarker for identifying children with solid CNS tumors. Results: Children with solid CNS tumor had significantly higher PChE activity in CSF and serum, as well as PChE CSF/serum ratio (P= 0.001). PChE CSF/serum ratio in the study group was 2.38% (interquartile range [IQR] 1.14-3.97) and 1.09% (IQR 0.95-1.45) in the control group. ROC curve. analysis of PChE CSF/serum ratio resulted in an area under the curve (AUC) value of 0.76 (95% confidence interval [CI] 0.63-0.88) and a cut-off of 1.09. Twenty five of 29 patients with elevated PChE CSF/serum ratio had a tumor, corresponding to a sensitivity of 83% and a specificity of 53%. SOD, CAT, GPx and MDA in CSF have high specifity and sensitivity for the solid brain tumors in children and this study provide a cutt of values for the each of them. Between antioxidants highest sensitivity in plasma has SOD 84.62%; highest specifity has GPx 75%. In CSF highest sensitivity showed GPx 89.29%, highest specifity has SOD 100%. MDA sensitivity in brain tumor children in plasma is 80% and in CSF 70%. It’s specificity for plasma is 85.19% and in CSF 78.57%. SOD in plasma resulted in AUC 0,51 and in CSF 0,91; GPx in plasma 0,85 in CSF 0,93; CAT in plasma 0,69 and in CSF 0,90; MDA in plasma 0,89 in CSF 0,78. Conclusion: PChE CSF/serum ratio and SOD, CAT and GPx in CSF resulted in AUC from 0,80 to 0,93 and may be used as a biomarkers with good sensitivity and good or excellent tests for solid CNS tumors in children

Pseudocholinesterase activity in cerebrospinal fluid as a biomarker of solid central nervous system tumors in children

AIM: To determine the activity of pseudocholinesterase (PChE) in cerebrospinal fluid (CSF) and serum in children with solid central nervous system (CNS) tumor and to assess whether PChE activity could be a valid biomarker for solid CNS tumors in children. ----- METHODS: The study and control group included 30 children each. Children in the study group had a solid CNS tumor, while those from the control group had never suffered from any tumor diseases. CSF and serum samples were collected from all participants and PChE activity was determined using the Ellman's spectrophotometric method. PChE activity in CSF was shown as a cerebrospinal fluid/serum ratio expressed in percentage, ie, PChE CSF/serum ratio. Receiver operating characteristic (ROC) curve was used to assess whether PChE activity can be used as a biomarker for identifying children with solid CNS tumors. ----- RESULTS: Children with solid CNS tumor had significantly higher PChE activity in CSF and serum, as well as PChE CSF/serum ratio (P=0.001). PChE CSF/serum ratio in the study group was 2.38% (interquartile range [IQR] 1.14-3.97) and 1.09% (IQR 0.95-1.45) in the control group. ROC curve analysis of PChE CSF/serum ratio resulted in an area under the curve (AUC) value of 0.76 (95% confidence interval [CI] 0.63-0.88) and a cut-off of 1.09. Twenty five of 29 patients with elevated PChE CSF/serum ratio had a tumor, corresponding to a sensitivity of 83% and a specificity of 53%. ----- CONCLUSION: PChE CSF/serum ratio may be used as a test or biomarker with good sensitivity for solid CNS tumors in children