Search

"nBackground: M. pneumoniae infection in children is usual and diagnosis of its neurologic complications for rapid treatment is very important. To compare the CSF- M. pneumoniae antibody level between febrile children with acute neurologic signs (Menigoencephalitis, Guillan Barre Syndrome (GBS), Transverse myelitis, Ataxia and so on) with unaffected ones. "n"nMethods: A cross sectional/ case control study in pediatric wards of Rasoul-e-Akram & Mofid hospitals (2007-2009) was done. The amount of Specific M. pneumoniae IgG (ELISA) antibody level determined in CSF of 55 cases and in 10 controls. Chi square values (CI 95%, p< 0.05) calculated for all categorical variables. Sensitivity; specificity; Positive Predictive Value (PPV); Negative Predictive Value (NPV) of CSF antibody level determined by using the Area under the ROC Curve. "n"nResults: Cases (n= 55) aged between five month to 13 years with mean age of 3.84±3.43 years. Area Under Curve (AUC) in ROC was 0.876 (%95 CI, 0.78- 0.96; p< 0.0001). Cut off level for antibody was 0.0025 with 73% sensitivity; 90% specificity; 100% PPV; 28.8% NPV. CSF antibody level had significant difference between cases and controls [0.08± 0.26 Versus 0.001± 0.001; p: 0.02]; It had poor agreement between cases and controls (Kappa= 0.27). Lowest amount seen in cases with aseptic meningitis; highest amount observed in cases with GBS and cases with focal neurologic signs. "n"nConclusion: The presence of very low amount (0.0025) of M. pneumoniae antibody in CSF of febrile children with acute neurologic signs had 70% sensitivity and 90% specificity; 100% PPV; but had low (28.8%) NPV. M. pneumoniae would be a rare cause in cases with aseptic meningitis. Finding the M. pneumoniae-DNAs in CSF are not so frequent (2%) but in high suspicious cases adding this test to determining the CSF antibody level might be helpful.

"nBackground: In recent years, many ill cases with cytomegalovirus reactivation in non-immuno compromised persons reported. Goal of study: to determine the CMV infection in cerebrospinal fluid of aseptic meningoencephalitis children hospitalized in Rasul & Mofid hospital (2005-2007). "nMethods: In a cross sectional study 132 cases selected with simple sampling. CMV-DNA in their Cerebro spinal fluids searched by qualitative PCR. "nResults: The age range of the study patients was 5 month- 13 years, median age= 2±3.7 years; 87(65.9%) male and 45(34.1%) was female. The presenting signs and symptoms were convulsion 77(69.4%); meningitis 25(18.8%), loss of consciousness 47(37%); neurologic defects 15.9%. DNA extrated in 11 cases. Mycoplasma- DNA in 2cases; DNA-CMV detected 2(1.5%). Positive DNA HSV found in 7(15.3%) of patients. DNA- HSV type- 15.3% (7/132) cases. An infant 5 month age with developmental delay, microcephaly and recurrent convulsions. A 1 year girl with brain atrophy and progressive hydrocephaly with intracranial shunt "nConclusions: Differentiation between herpes meningoencephalitis and other encephalopathy based on clinical signs in children is too difficult. CMV (1.5%) has lower rate than herpes simplex type-1 (5.7%). In addition to CMV and HSV1 all of herpes family viruses (varicella, herpes 6, 7, Epstein barr virus) could have role in children with meningoencephalitis. In recent years a sensitive, rapid, simple diagnostic test "Single tube Multiplex PCR" in cerebro spinal fluid recommend. Rapid diagnosis and faster treatment is necessary for decreasing mortality and morbidity in all of herpes meningoencephalitis cases

Background: Considering that better understanding of the underlying mechanisms and risk factors of arterial ischemic stroke (AIS) would be helpful for better management of stroke and its outcome in children as well as preventing or reducing the occurrence of its related potential disabilities, the aim of this study was to investigate the most common risk factors and causes of AIS in patients referred to the referral hospitals in Tehran and Isfahan cities of Iran., Methods: In this study, medical files of all pediatric patients admitted to the Mofid and Imam Hossein children's hospitals with the diagnosis of AIS from 2001 to 2011 and 2011 to 2016, respectively, were evaluated. Identified risk factors of AIS were categorized as arteriopathies, cardiac disorders (CDs), infection, acute head-and-neck disorders, acute systemic conditions, chronic systemic conditions, prothrombotic states, chronic head-and-neck disorders, atherosclerosis-related RFs, and others., Results: In this study, 61 patients were evaluated. Mean (standard deviation) age of the patients was 5.1 (3.9) years. About 62.3% of the patients were boys while 37.7% were girls ( P < 0.01). A total of 36 patients (59%) had at least one risk factor for AIS. About 40.9% of patients had undetermined risk factors. CDs (21.31%) and vascular disease (21.31%) were the most common risk factors of AIS in the studied children. Nearly 11.5% of the patients had moyamoya vascular disease (MMD)., Conclusion: The findings of our study indicated that the most common risk factors for AIS in the two studied regions are congenital heart and vascular diseases. The results of the current study could be used for planning more preventive strategies in patients suffering from the mentioned diseases. In addition, the obtained data could be used for conducting targeted education and management of high-risk patients., Competing Interests: There are no conflicts of interest.

Objective: Pompe disease is a rare neuromuscular genetic disorder and is classified into two forms of early and late-onset. Over the past two decades, mitochondrial abnor- malities have been recognized as an important contributor to an array of neuromuscular diseases. We therefore aimed to compare mitochondrial copy number and mitochondrial displacement-loop sequence variation in infantile and adult Pompe patients., Materials and Methods: In this retrospective study, the mitochondrial D-loop sequence was analyzed by polymerase chain reaction (PCR) and direct sequencing to detect pos- sible variation in 28 Pompe patients (17 infants and 11 adults). Results were compared with 100 healthy controls and sequences of all individuals were compared with the Cam- bridge reference sequence. Real-time PCR was used to quantify mitochondrial DNA copy number., Results: Among 59 variants identified, 37(62.71%) were present in the infant group, 14(23.333%) in the adult group and 8(13.333%) in both groups. Mitochondrial copy number in infant patients was lower than adults (P<0.05). A significant frequency differ- ence was seen between the two groups for 12 single nucleotide polymorphism (SNP). A novel insertion (317-318 ins CCC) was observed in patients and six SNPs were iden- tified as neutral variants in controls. There was an inverse association between mito- chondrial copy number and D-loop variant number (r=0.54)., Conclusion: The 317-318 ins CCC was detected as a new mitochondrial variant in Pompe patients.

Nonconvulsive status epilepticus may present with several manifestations, and many of them may not be obvious. The most important for the diagnosis of nonconvulsive status epilepticus is the electroencephalogram pattern. This is a case report of a 9-year-old boy with severe and continuous headache. He received chemotherapy for histiocytosis that was diagnosed when he was 3 years, 6 months years old. He had no evidence of central nervous system histiocytosis involvement or drug toxicity. He was diagnosed with nonconvulsive status epilepticus. The headache and electroencephalogram anomaly disappeared completely when anticonvulsant therapy began. Headache and seizure disorder may coexist, but this may be the first report of nonconvulsive status epilepticus with headache as a sole manifestation.

Nonconvulsive status epilepticus can present with several manifestations, many of which might not be obvious. The most important for the diagnosis of nonconvulsive status epilepticus is the electroencephalogram (EEG) pattern. This is a case report of a 9-year-old boy with severe and continuous headache. He received chemotherapy for histiocytosis and was diagnosed at 3.5 years. He had no evidence of central nervous system histiocytosis involvement or drug toxicity. He was diagnosed with nonconvulsive status epilepticus. Headache and EEG anomaly disappeared completely when anticonvulsant therapy was begun. Headache and seizure disorder can coexist, but this might be the first report of nonconvulsive status epilepticus with headache as a sole manifestation.

We studied 20 Mediterranean families (40 patients) with autosomal recessive hereditary spastic paraplegia and thin corpus callosum (ARHSP-TCC, MIM 604360) to characterize their clinical and genetic features. In six families (17 patients) of Algerian Italian, Moroccan, and Portuguese ancestry, we found data consistent with linkage to the SPG11 locus on chromosome 15q13-15, whereas, in four families (nine patients of Italian, French, and Portuguese ancestry) linkage to the SPG11 locus could firmly be excluded, reinforcing the notion that ARHSP-TCC is genetically heterogeneous. Patients from linked and unlinked families could not be distinguished on the basis of clinical features alone. In SPG11-linked kindred, haplotype reconstruction allowed significant refinement to 6 cM, of the minimal chromosomal interval, but analysis of two genes (MAP1A and SEMA6D) in this region did not identify causative mutations. Our findings suggest that ARHSP-TCC is the most frequent form of ARHSP in Mediterranean countries and that it is particularly frequent in Italy.