Unusual presentation of miliary tuberculosis in a 12-year-old girl: a case report.

BACKGROUND: Miliary tuberculosis (TB) is a lethal hematogenous spread form of mycobacterium tuberculosis with approximately 15-20% mortality rate in children. The present report highlights the clinical manifestations of an unusual presentation of miliary tuberculosis in a 12-year-old girl. CASE PRESENTATION: In this case, extensive lung involvement was presented despite the absence of respiratory symptoms. Also, some central hypo-intense with hyper-intense rim nodules were detected in the brain's pons, right cerebral peduncles and lentiform nucleus. CONCLUSION: The results of this study showed that severe miliary TB may occur even in a person who received the Bacille Calmette-Guérin (BCG) vaccine.

Giant mediastinal mass in a 3-year-old boy: A rare presentation of neurofibromatosis type I.

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease diagnosed with the presentation of café-au-lait macules, skinfold freckling, iris Lisch nodules, neurofibromas, osseous lesion, and optic gliomas. Mediastinal mass as the first presentation of NF1 is very rare, with a frequency of about 2.7%. Here, we present a rare case of NF1 in a 3-year-old boy admitted with respiratory distress and superior vena cava syndrome.

Comparison of the effect of continuous intravenous infusion of sodium valproate and midazolam on management of status epilepticus in children.

BACKGROUND AND OBJECTIVES: Status epilepticus as a pediatric emergency requires rapid seizure control in order to prevent subsequent disabilities. Therefore, the present study was conducted to compare the efficacy and side effects of continuous intravenous infusion of sodium valproate versus midazolam as a third-line treatment of status epilepticus in children. METHODOLOGY: This randomized clinical trial study included all children with convulsive and non-convulsive status epilepticus admitted to the pediatric intensive care unit (PICU) of the Bu-Ali Sina Hospital in Sari City (Mazandaran Province, Iran) who had not responded to first-line treatment with diazepam and second-line treatment with phenytoin or phenobarbital. They were consequently treated with continuous intravenous infusion of sodium valproate or midazolam to control persistent seizures. RESULTS: The study comprised 70 patients who were randomly assigned to two equal groups of sodium valproate or midazolam treatment. The mean age of patients in group A (sodium valproate) and group B (midazolam) was 3.97 ± 3.33 and 3.84 ± 2.93 years, respectively. In the present study, the most common etiology of status epilepticus was remote symptomatic, accounting for 35% of cases in the two groups. Sodium valproate was effective in controlling status epilepticus in 91.4% of patients, while midazolam was found to be effective in 85.7% of patients (p > 0.05). Patients who received sodium valproate had shorter seizure duration after administration of the drug compared to those who received midazolam (p = 0.01). Eight patients in the midazolam group and two patients in the sodium valproate group were intubated (p = 0.023). The mean duration of stay in the PICU was 3.2 ± 1.4 and 5.6 ± 2.8 days in groups A and B, respectively, showing a significant difference (p = 0.001). CONCLUSION: According to our findings, intravenous infusion of sodium valproate can be used as an effective and relatively safe treatment in children with all types of status epilepticus, especially in challenging situations such as lack of intensive care units or respiratory problems.

Clinical characteristics of 10 children with a pediatric inflammatory multisystem syndrome associated with COVID-19 in Iran.

BACKGROUND: Although symptoms and signs of COVID-19 (Coronavirus disease 2019) in children are milder than adults, there are reports of more severe cases which were defined as pediatric inflammatory multisystem syndrome (PIMS). The purpose of this report was to describe the possible association between COVID-19 and PIMS in children. METHODS: From 28 March to 24 June 2020, 10 febrile children were admitted with COVID-19 infection showing characteristics of PIMS in Buali tertiary hospital of Sari, in Mazandaran province, northern Iran. Demographic and clinical characteristics, laboratory and imaging findings, and therapeutic modalities were recorded and analyzed. RESULTS: The mean age of the patients was 5.37 ± 3.9 years (13 months to 12 years). Six of them were boys. Kawasaki disease, myocarditis, toxic shock syndrome, appendicitis, sepsis, urosepsis, prolonged febrile seizure, acute hemorrhagic edema of infancy, and COVID-19-related pneumonia were their first presentation. All of them had increased C-reactive protein levels, and most of them had elevated erythrocyte sedimentation rate, lymphopenia, anemia, and hypoalbuminemia. Three of them had thrombocytopenia(PLT < 106). Six of them were serologically or polymerase chain reaction positive for COVID-19, and 4 of them were diagnosed as COVID-19 just by chest computed tomography scan. Most of the patients improved without a residual sequel, except one who died with multiorgan failure and another case was discharged with a giant coronary aneurysm. CONCLUSIONS: Children with COVID-19 may present symptoms similar to Kawasaki disease and inflammatory syndromes. PIMS should be considered in children with fever, rash, seizure, cough, tachypnea, and gastrointestinal symptoms such as vomiting, diarrhea, and abdominal pain.

Relation between Febrile Seizure Recurrence and Hyponatremia in Children: A Single-center Trial.

BACKGROUND: Febrile seizure (FS) is one of the most common types of seizure in pediatrics. OBJECTIVE: The aim of this study was to compare serum sodium in children with simple or recurrent FS and seizure without fever. MATERIALS AND METHODS: This was a cross-sectional prospective study conducted between September 2015 and April 2017 in patients aged between 6 months and 6 years, who were admitted to a tertiary educational medical center in the north of Iran. Patients were categorized into three groups, group A: simple FS, group B: recurrent FS, and group C: afebrile seizure. Serum sodium level was measured on admission and/or when the seizure occurred. RESULTS: The study included 248 patients aged 6 months to 6 years. Their mean age was 22.38 ± 1.34 months. Hyponatremia was found in 6% of group A, 7.5% of group B, and 6% of group C. The mean sodium level in group A (134.46 ± 2.3 mEq/L) and group B (134.35 ± 2.06 mEq/L) did not disclose meaningful difference, but it was significantly lower in febrile groups than in the control group. CONCLUSION: Although the results did not show that the lower level of serum sodium increased the risk of seizure recurrence during the next 24h in febrile illness, lower serum sodium concentration was more common in FS groups.

Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analyses.

Brown-Vialetto-Van Laere syndrome, a rare neurological disorder is due to SLC52A3 mutations. Here, the SLC52A3 protein and its mutations are in silico structurally and functionally analyzed among all the reported patients and a novel mutation is also reported. After clinical evaluations, SLC52A3 gene was sequenced and segregation analysis of the mutations was also checked. A comprehensive search was performed on the reported mutations of SLC52A3 gene. In silico structural and functional analyses of the mutations and interactome analyses of the protein were done using available software tools. Mutations of 37 affected individuals were identified. Thirty three mutations were determined. c.502A > C was a novel variant that it was segregated within the family. One mutation (c.639C > G) was responsible for 12% of the mutations. Segregation analysis, secondary structure, functional prediction achieved for the novel mutation showed pathogenicity of this variant. BVVL is a very rare disorder; SLC52A3 mutations are distributed among different populations and there might be one frequent mutation in this gene. BVVL should be more considered in Iran. In addition to segregation analysis, computational analyses could accelerate understanding the extent of pathogenicity of the novel variants.

Investigating Brain MRI Findings in Children with Headache.

OBJECTIVE: Migraine is a common headache associated with structural changes in brain. The purpose of this study was to evaluate brain MRI findings in children with migraine. MATERIALS & METHODS: This cross-sectional study was conducted at Booali Hospital, Mazandaran University of Medical Sciences, Sari, Iran. Participants with headache and age between 5 and 15 yr were evaluated with MRI and their headache type was diagnosed by the standard criteria. The findings of the MRI were interpreted by a radiologist blinded to the diagnoses. RESULTS: Overall, 81 individuals with symptom of headache and the mean age of 9.56±3.25 yr were enrolled. Twenty patients with the mean age of 9.65±2.75 yr were diagnosed with migraine without aura. Among the 54 male patients, 8 patients (14.8%) were diagnosed with migraine; and among the 27 female patients, 12 patients (44.4%) were diagnosed with migraine (RR: 1.5, 95%CI: 1.07-2.18, P=0.004). Ten migraine patients had abnormal MRI findings (50%), including 8 cases with high signal white matter lesion, and 2 cases with empty sella. The occurrence of the high signal white matter lesions was significantly greater in the migraine patients (RR: 3.91, 95% CI: 2.10-7.25, P=0.001). CONCLUSION: The possibility of occurrence of the high signal white matter lesions in the brain MRI of children with migraine was significantly higher compared with other headache types.

Incidence of Neonatal Hyperphenylalaninemia Based on High-performance Liquid Chromatography Confirmatory Technique in Mazandaran Province, Northern Iran (2007-2015).

BACKGROUND: Classic phenylketonuria (PKU) is a metabolic disorder. The purpose of this study was to assess epidemiological factors of PKU phenotypes in a neonatal screening program for Mazandaran, Iran. METHODS: In this descriptive-retrospective study from 2007 to 2015, neonates PKU level was conducted by phenylalanine level based on a biochemical technique by ELISA and then by confirmatory methods high performance liquid chromatography. RESULTS: Of the 407,244 screened newborns (48.7% girls and 51.3% boys), 14 girls and 13 boys were diagnosed definitely from 465 suspicious cases of PKU. The incidence of PKU was 0.66 in 10,000, which was noted in different severity (severe PKU - 1:67,874, mild PKU - 1:45,249, and HPA - 1:33,937). In addition, we did not detect any cases of nonclassic PKU. CONCLUSIONS: Although the consanguineous marriage pattern is a major cause of hyperphenylalaninemia (HPA) particularly in Iranian, there was no significant difference between groups in this study. Now, screening should be executed for all of the family that they have the familial history of PKU in Iran. According to varies actual of prevalence and incidence rate of PKU reported a real patient and taking PKU with mild PKU and HPA, it is recommended, the will provide the PKU reports based on the severity of the disease.

Prevalence of Stroke in Neonates Who Admitted With Seizures in Neonatal Intensive Care Unit.

OBJECTIVE: Prevalence of neonatal stroke has been reported 1/2300-1/4000 live births and accounts for 12-20% of the cases of neonatal seizures. Although stroke has been introduced as the second cause of the neonatal seizures in literatures, it may remain unclear in diagnostic evaluations of seizure in neonates. This study was performed to assess the prevalence of stroke in neonates with seizure. MATERIALS & METHODS: In this cross-sectional study, all neonates ≥ 28 weeks of gestation with a diagnosis of seizures admitted to the NICU of Boo-Ali Sina Hospital in Sari, north of Iran, were enrolled. Brain CT scan and a Transcranial Doppler ultrasonography were performed for the all cases. In cases that stroke were reported in one or two above modalities, an MRI was also performed and prevalence of stroke was reported. Putative risk factors of stroke were analyzed with univariate and multivariate statistical methods. RESULTS: From 174 newborn infants, 75.3% of neonates were male. Prevalence of stroke was 8%, 2.3% and 3.4% in Doppler ultrasonography, CT scan and MRI reports respectively. Umbilical venous catheterization was the risk factor of stroke in the univariate and multivariate analysis (P= 0.001; OR, 10.39; 95% CI, 2.72- 39.77). The most common form of seizure was focal clonic seizures (78.6%) in neonates with stroke. CONCLUSION: Investigation of stroke as an etiology of neonatal seizures is essential because seizure may be the only symptom of neonatal cerebral infarction. Doppler ultrasonography can be a valuable diagnostic tool at first in critically ill neonates or in situations that MRI is not available primarily. Further studies with notice to outcome assessment of these infants recommended.

IQ Score of Children with Persistent or Perennial Allergic Rhinitis: A Comparison with Healthy Children.

OBJECTIVE: Prevalence of allergies is different around the world. Allergic rhinitis is a common chronic disease in children. Intelligence quotient (IQ) is an indicator of efficacy and many factors including chronic diseases may affect it. This study compares the IQs of children diagnosed with persistent or perennial allergic rhinitis with healthy children. MATERIAL & METHODS: This was a comparative study that was conducted from June 2011-May 2013 in an academic referral clinic. In this study, 90 patients aged 6- to 14-yearsold who were diagnosed with persistent or perennial allergic rhinitis and were compared to 90 age and gender match healthy patients from their respective families. The Wechsler Intelligence Scale for Children was used to divide and calculate overall IQ, verbal IQ, and practical IQ. The t-test and chi square were used to analyze quantitative variables and qualitative variables, respectively. RESULTS: In this study, out of total 180 children, 90 (50%) in the case group and 90 children (50%), the control group participated for IQ comparison. One hundred (57%) were male and 80 (43%) were female. The overall IQ for allergic rhinitis patients and healthy patients was 109.2 and 107.5, respectively. This difference was not considered significant. Furthermore, there was no significant difference between the IQ scores of males and females. CONCLUSION: Although allergic rhinitis is a chronic disease and effects quality of life, there were no identifiable negative effects on IQ.

IQ Scores of Children with Moderate Asthma: A Comparison with Healthy Children.

OBJECTIVE: Intelligence quotient is an indicator of one's efficacy and many factors including chronic diseases may impact upon it. This study aims to compare the IQ of children diagnosed with moderate asthma to the IQ of healthy children. METHODS: This comparative study was conducted between June 2011 and January 2012 in an Academic Referral Clinic. In this study, 114 patients aged 6 to 13 years who were diagnosed with moderate asthma were compared with 90 age and sex matched healthy patients from their families. Wechsler intelligence scale for children was used by split half method to calculate the overall IQ, verbal IQ and practical IQ. The t-test and Chi square test were used to analyze quantitative variables and qualitative variables, respectively. RESULTS: In this study, 204 children, 114 (56%) in the case group and 90 children (44%) in the control group participated in comparing their IQs. One hundred and fifteen (56%) were males and 89 (44%) were females. The overall IQs of asthmatic patients and healthy patients were 109 and 108, respectively; the difference was not significant (p=0.905). Furthermore, there was no significant difference in the IQ scores between males and females. CONCLUSION: Although asthma is a chronic disease and causes many respiratory problems, it has no negative impact on IQ.

Effects of piracetam on pediatric breath holding spells: a randomized double blind controlled trial.

OBJECTIVE: Breath holding spells (BHS) are common paroxysmal non-epileptic events in the pediatric population which are very stressfull despite their harmless nature. There has been no specific treatment found for the spells yet. The aim of this study was to evaluate the efficacy of piracetam (2-oxo-l-pyrrolidine) on these children. MATERIALS & METHODS: In this randomized double blind clinical trial study, 150 children with severe BHS referred to our pediatric outpatient service were enrolled from August 2011 to July 2012. The patients were randomized into two equal groups. One received 40mg/kg/day piracetam and the other group received placebo, twice daily. Patients were followed monthly for three months. The number of attacks/month before and after treatment were documented. RESULTS: Of the enrolled patients, 86 were boys. The mean age of the patients was 17 months (range, 6 to 24 months). In the piracetam group, 1 month after treatment an 81% response to treatment was found. In the placebo group, none of the patients had complete remission and 7% of the cases had partial remission. Overall, control of breath-holding spells was observed in 91% of the patients in the group taking piracetam as compared with 16% in the group taking placebo at the end of the study. There was no significant difference detected between the groups regarding the prevalence of drug side effects. CONCLUSION: A significant difference was detected between piracetam and placebo in prevention and controlling BHS. Piracetam (40mg/kg/day) had a good effect on our patients.

Effective dose of topiramate in pediatric migraine prophylaxis.

OBJECTIVE: Migraine is a common neurological disorder in childhood and adolescence. Topiramate is a new anticonvulsant drug, recently being used in migraine prophylaxis in adults, although it is not approved by the Food and Drug Administration for prevention of pediatric migraine. The present study was planned and performed to evaluate the efficacy of low-dose topiramate in pediatric migraine prophylaxis. MATERIALS AND METHODS: A prospective study, including 60 patients with migraine headaches was performed for a period of two months. The patients were randomly divided into two treatment groups - treated by topiramate < 2 mg/kg/day and > 2 mg/kg/day. All the patients were evaluated at 0, 4, and 8 weeks of the study for the clinical response. RESULTS: The patients receiving topiramate < 2 mg/kg/day (mean dose of 1.2 ± 0.7 mg/kg/day) showed a reduction in the mean (±SD) of migraine frequency from 6.2 (±2.4) to 3.0 (±1.8) episodes per month, headache intensity from 7.2 (±1.95) to 3.7 (±1.8) based on the Visual Analog Scale, and headache duration from 5.4 (±2.1) to 2.2 (±1.3) h. In the patients treated with topiramate > 2 mg/kg/day (mean dose of 2.4 ± 0.5 mg/kg/day), the mean (±SD) of monthly headache frequency reduced from 6.9 (±2.1) to 3.24 (±1.2) per month, intensity from 7.11 (±1.4) to 3.14 (±2.41), and headache duration from 5.2 (±2.4) to 1.8 (±1.2) h, at the end of follow-up (P > 0.05). The most common side effects of topiramate were paresthesias (five patients), anorexia (four patients), drowsiness (four patients). CONCLUSION: The results of this study demonstrated that low-dose of topiramate (<2 mg/kg/day) is effective, well-tolerated, safe, and suggested as an alternative prophylactic treatment for pediatric migraine.

Efficacy of the Atkins diet as therapy for intractable epilepsy in children.

BACKGROUND AND AIMS: The ketogenic diet is an effective medical therapy for intractable childhood epilepsy. However, it has drawbacks in that it restricts calories, fluids and protein. The Atkins diet may also induce ketosis without those restrictions. Our objective was to evaluate the efficacy of a modified Atkins diet in children with intractable childhood epilepsy. METHODS: This clinical trial was conducted in 51 epileptic children aged 1 - 16 years with refractory seizures from Feb. 2004 to Oct. 2006. Outcome measures included seizure frequency and adverse reactions. Twenty-seven patients left the study for various reasons, leaving 24 who continued the Atkins diet for a minimum of three months. Carbohydrates were initially limited to 10 g/day and fats constituted 60% of the total energy requirement. All participants received vitamin and calcium supplementation. RESULTS: Following three months of treatment with the Atkins diet, 16 patients (67%) had >50% decrease in seizure frequency, and 6 (25%) had >90% improvement, of whom 5 were seizure-free. Mean seizure frequency after the first, second and third months of treatment were significantly lower than at baseline (P values <0.001, 0.001 and 0.002, respectively). CONCLUSION: The Atkins diet can be considered as a safe and effective alternative therapy for intractable childhood epilepsy. Atkins diet was well tolerated in our patients with rare complications and it appears to demonstrate preliminary efficacy in childhood refractory epilepsy.

Selenium and intractable epilepsy: is there any correlation?

Oxidative stress and generation of reactive oxygen species are strongly implicated in a number of neuronal and neuromuscular disorders, including epilepsy. The functions of selenium as an antioxidant trace element are believed to be carried out by selenoproteins that possess antioxidant activities and the ability to promote neuronal cell survival. Because of this protective role of selenium against oxidative damage, a case-control study was designed to compare its serum level between intractable epileptic patients and normal subjects. Eighty patients who met the criteria of intractable epilepsy were compared with a normal control group of the same age, socioeconomic level, and place of living. Serum selenium level was measured with an atomic absorption spectrophotometer. The mean (+/- S.D.) of serum selenium were 68.88 (+/-17.58) ng/mL and 85.93 (+/-13.93) ng/mL in the patient and control groups respectively. Independent sample t test with P < 0.05 indicated a significant lower mean of serum selenium in the patient group compared with that of the normal control group. However, there was no association between serum selenium and some suggested predictive factors of intractable seizures, including age at the onset of seizures, neonatal seizure, neurologic impairment, and etiology of epilepsy. Measurement of serum selenium in patients with intractable epilepsy should be considered.