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Background: Drug-resistant epilepsy is defined as failure of seizure control in spite of using 2 or 3 proper antiepileptic drugs in appropriate time. Mineral elements play important roles in neuronal function; it is believed that mineral deficiency may lead to complications through seizure management. In the present study, serum levels of zinc (Zn), copper (Cu), magnesium (Mg), calcium (Ca), and 25-hydroxy vitamin D (Vit D) in drug-resistant-epilepsy (DRE) patients were evaluated and compared with the controlled patients. Methods: In this cross-sectional study, epileptic patients were included and categorized into two groups of DRE and well-controlled patients. Patients' serum samples were analysed to evaluate Zn, Cu, Mg, Ca, and Vit D levels. The primary objective was comparison of serum levels of different trace elements between the groups. Results: Sixty-four epileptic children including 33 DRE and 31 well-controlled children entered the study. The DRE children showed a significantly earlier onset of disease compared to the other group (p = 0.014). Comparing the frequency of developmental delay between the groups, the results showed this complication was significantly more frequent in the DRE group (p < 0.001). Concerning serum elements, the results showed a significantly higher concentration of Zn in the well-controlled group than the DRE group (p = 0.007). On the other hand, no significant differences were observed between the groups regarding the means of Vit D, Ca, Cu, and Mg levels (p > 0.05). Conclusion: The results of the present study delineated that drug-resistant epilepsy patients had earlier onset of disease and were at higher risk of neurodevelopmental delay compared with well-controlled-epilepsy patients. A significant lower serum levels of Zn were also observed in drug-resistant-epilepsy patients. This finding may suggest the role of zinc supplementation in help to better control of drug-resistant seizures, as well as, the importance of serum zinc monitoring in epileptic patients. [ABSTRACT FROM AUTHOR]

Myasthenia gravis (MG) is the most frequent transmission disease in the neuromuscular junction. Juvenile myasthenia gravis (JMG) is an autoimmune antibody-mediated disease of postsynaptic endplate defined as MG presentation in patients before the age of 18 years old. While many clinical features of JMG are identical to the adults, there are some significant differences between them regarding presentation, clinical course, antibody level, and thymus histopathology. In JMG, ocular symptoms are more frequent, the clinical course is comparably benign, and the outcome is better than adult MG. Antibodies attack the muscle endplate proteins in the postsynaptic membrane and interfere with transmission. These antibodies in most patients are against the acetylcholine receptors, but they may also be directed toward muscle-specific kinase, lipoprotein-related protein 4, and agrin. Findings show racial influences and genetic effects on the occurrence of JMG. The essential clinical symptom is fatigable weakness of muscles that can be in the form of isolated ocular type or more disseminated weakness. The diagnosis of JMG is essentially clinical, with fluctuating patterns of weakness and easy fatigability, but a series of diagnostic evaluations can confirm the diagnosis. Precise diagnostic evaluation and distinction from congenital myasthenic syndromes is critical. The treatment plan is conducted according to the clinical course (ocular or generalized), antibody type, and disease severity. The mainstay of treatment includes symptomatic therapy, long-lasting immunosuppressive treatment and treatment of myasthenic crisis. Novel medications are introduced and conducted to the specific pathophysiologic mechanisms of the disease, and they are used primarily in the refractory MG. [ABSTRACT FROM AUTHOR]

Introduction: Autoimmune encephalitis (AIE) with neural cell autoantibodies is a treatable category of non-viral encephalitis in children and adolescents which presents with neuropsychiatric manifestations. Anti-N-methyl- D-aspartate receptor encephalitis, the most common identified type of AIE, is more frequent than individual viral encephalitis in young patients. Early diagnosis and treatment of the disease have been associated with improvement in the majority of patients. Case Report: we report two pediatric cases with acute neuropsychiatric presentations in whom the diagnosis of AIE was proved based on the cerebrospinal fluid (CSF) antineuronal antibodies in one and on clinical and paraclinical grounds in another seronegative patient. Immunotherapy in both patients resulted in improvement. No underlying tumor was found in patients. Pediatricians should be aware of manifestations, investigations, and treatment of AIE and consider it as the differential diagnosis of encephalitis. [ABSTRACT FROM AUTHOR]

Introduction: Central nervous system (CNS) involvement is the most common extrarenal involvement in hemolytic uremic syndrome (HUS). There are limited reports on clinical cause of chronic neurologic problems in HUS. We evaluated residual neurologic involvement in children with HUS.Materials and Methods: This cross-sectional study was conducted on 58 patients with a diagnosis of HUS referred to 2 tertiary pediatric centers. Neurological examinations was performed on all of the patients and they were followed up between 2001 and 2015. Data including demographic variables, type of HUS, neurological symptoms, and other complications were recorded. Neurological involvements that occurred after 6 months from the acute phase of HUS were considered as chronic neurological involvement.Results:  Among 58 patients who were included in the study, 31 (53.4%) had neurological manifestations (31 with acute and 19 with chronic complications). There was no significant difference in acute neurological manifestations between typical and atypical HUS, while chronic neurological manifestations were more frequents in patients with atypical HUS (P = .05). The most common presentations were seizure and decreased level of consciousness. Chronic neurologic problems were found in follow-up visits of 11 patients with acute and 8 without acute involvement. Hypertension was associated with chronic manifestations (P = .01).Conclusions: According to our results, residual neurological problems were not infrequent in HUS and they were more related with atypical form of disease. Evidence of hypertension is a significant variable for persistence of neurologic problems. [ABSTRACT FROM AUTHOR]

OBJECTIVE: This study was conducted to investigate the sleep symptoms and polysomnographic patterns of obstructive sleep apnea in overweight and obese children. MATERIALS & METHODS: Overweight or obese children aging 6-18 yr old referred during 2010 to Endocrinology Clinic of Ghods Hospital in Ghazvin, central Iran were enrolled in the study. Polysomnography was done for the diagnosis of obstructive sleep apnea and the BEARS and Children's Sleep Habits questionnaires were used to survey sleep behaviors. RESULTS: We enrolled 30 children (14 males, 16 females). Twenty-one cases had body mass index (BMI) >95% and 9 had 85% CONCLUSION: Prevalence of obstructive sleep apnea is high among overweight and obese children. Physicians should be familiar with its manifestations and consider polysomnography as an invaluable diagnostic test. There was no relation between the degree of obesity and severity of obstructive sleep apnea. [ABSTRACT FROM AUTHOR]

The article describes the case of an 8-year-old girl with echolalia, epilepsy and autistic disorder and who was later diagnosed with Kleine-Levin syndrome (KLS).

Objective: Motor development is frequently reported to be impaired in very low birth weight (VLBW) infants, but little is known about the moderately low birth weight (MLBW) infants. The aim of this study was to investigate whether MLBW preterm infants present developmental delay. Methods: In a historical cohort study, 18±2 month-old infants with a history of low birth weight (LBW) were identified. All infants with complications of LBW with negative effects on development were excluded. Healthy infants with normal birth weight (2500–4000 g) were included as controls. All infants were evaluated by the Peabody Developmental Motor Scale II (PDMS-2) test and final scores compared between the two groups. Finding: 88 infants including 58 MLBW and 30 NBW with a mean birth weight of 1900±382.4 g and 3150±473.5 g respectively, were studied. In the MLBW group, gross and fine motor skill scores were below average in 6 (6.8%) and 10 (17%) infants, respectively. There were no significant differences between the two groups according to gross motor quotient (102.5±5.5 in NBW vs 100.1±7.2 in MLBW; P=0.1), but MLBW infants achieved significantly lower scores in fine motor (93.3±5.4 vs 99.6±5.0; P=0.001) and total motor quotient (97.0±5.9 vs 101.53±5.0; P=0.001). Conclusion: The finding of this study show developmental defects in fine motor skills in MLBW infants. Accurate monitoring of the developmental status of this population should be emphasized for an earlier recognition and intervention. [ABSTRACT FROM AUTHOR]

Objective Febrile seizures (FS) are the most common type of childhood seizures, affecting 2-5% of children. As the seizure may be the sole presentation of bacterial meningitis in febrile infants, it is mandatory to exclude underlying meningitis in children presenting with fever and seizure. To determine the frequency of meningitis in children with FS and related risk factors, the present study was conducted at Ali-Asghar Children's Hospital. Materials & Methods The records of children aged from 1-month-6 years of age with fever and seizure admitted to the hospital from October 2000-2010 were studied. The charts of patients who had undergone a lumbar puncture were studied and cases of meningitis were selected. The related data was collected and analyzed with SPSS version 16. Results A total of 681 patients with FS were known from which 422 (62%) lumbar punctures (LP) were done. Meningitis (bacterial or aseptic) was identified in 19 cases (4.5%, 95% CI 2.9-6.9 by Wilson- Score internal) and bacterial meningitis in 7 (1.65%, 95% CI 0.8-3.3). None of the patients with bacterial meningitis had meningeal irritation signs. Complex FS, first attack of FS, and impaired consciousness were more common in patients with meningitis when compared to non- meningitis patients. Conclusion Meningitis is more common in patients less than 18 months presenting with FS; however, complex features of seizures, first attack of FS, or impaired consciousness seem significant risk factors for meningitis in these children and an LP should be considered in this situation. [ABSTRACT FROM AUTHOR]

Objective: Headache is one of the most common neurologic problems in children and adolescents. Primary headache including migraine and tension-type headache comprises the vast majority of headaches and are associated with marked incidence, prevalence, and individual and social cost. We aimed to assess demographic characteristics and to compare some factors related to primary headaches in children/ adolescents presented to neurology clinics of Tabriz University of Medical Sciences. Methods Children from 4 to 15 years of age with the diagnosis of primary headache (migraine or tension-type headaches) who presented to the neurology clinics affiliated to Tabriz University of Medical Sciences, Tabriz, Iran from March 2009 to October 2011 are included in this cross-sectional study. Data regarding the type of headache, history of atopy, peripartum asphyxia, and breast feeding, family history of headache and the socioeconomic status of the family were collected. The diagnosis was based on the international headache society diagnostic criteria for the primary headache disorders. Findings: One hundred ninety children (107 females) with primary headache (88 patients with migraine and 102 patients with tension type headache) enrolled in the study. Peripartum asphyxia, history of atopy, family history of headache and low socioeconomic status (SES) were more common in patients with migraine (P-values: 0.007, 0.01, 0.001, 0.003; respectively). Conclusion: Physicians need to extent their knowledge regarding the primary headaches. Peripartum asphyxia, history of atopy, headache in parents and low SES have been shown in the present study to be more prevalent in patients with migraine as compared to tension-type headache. [ABSTRACT FROM AUTHOR]

Paraneoplastic syndromes result from secretion of hormones, peptides or cytokines by tumor or immune cross-reactivity between malignant and normal tissues. These conditions are rare in children, but when the clinical presentation of patients with a tumor is unusual, these syndromes should be emphasized. Extrarenal tumors with renin-secretion are rare in children. They may be related to paraneoplastic syndromes. We report a 22-month-old infant with hepatoblastoma presented with severe hypertension and related neurologic symptoms due to high plasma renin activity. To the best of our knowledge, this is the second report of renin producing hepatoblastoma in the literature. However, due to lack of laboratory facilities such as immunohistochemical study or polyclonal antibody for human renin activity, we could not prove the secretion of renin just by tumor tissue cells, but this potentiality is very likely. Other intensive investigations did not show any other origin for rennin secretion or hypertension in this patient. [ABSTRACT FROM AUTHOR]

Globoid cell leukodystrophy ( krabbe disease) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of galactoceramide β-Galactosidase enzyme and characterized by severe myeline loss and presence of globoid bodies in the white matter. This enzyme is responsible for the hydrolysis of galactolipids formed during white matter myelination. The pathologic changes in the peripheral and central nervous system ( globoid cell formation and decreased myelin) appeare to result from the toxic nature of accumulated psychosin ( galactosphingosine) and galactocerebroside (galactosylceramide) that can not be degraded. Nonmetabolized galactocerebroside stimulates the formation of the globoid cells that reflect the destruction of oligodendroglial cells. These cells are responsible for the elaboration of the myeline. Therefore, this loss leads to myelin breakdown and produce additional galactocerebroside and cause a vicious circle of myeline destruction. The galactosylceramidase gene (GALC), is located on chromosome 14q 31. More than 70 GALC mutations, including numerous small deletions and insertions, has been identified in patients with all clinical types of Krabbe disease. Some mutations result in the infantile type if found homozygous or with another severe mutation, and one mutation predicts a less severe phenotype. Disease incidence in the general population is estimated at 1 in 201000. Most patients with Krabbe disease(KD) present during the first 6 months of life (early infantile form) and only 10 percent present later (juvenile or adult onset). A peripheral motor sensory neuropathy occurs in all patients but the CNS symptoms are dominated in the infantile form. Infants with KD present with irritability, rapidly progressive rigidity and tonic spasms, axial hypotonia, absent reflexes, optic atrophy and blindness, microcephaly, seizures and startle myoclonus.Tonic extensor spasms occure with light, sound, or touch stimulations. Unexplained low grade fever is present. During 2-4 months, infants remain in a permanent opistotonus position and regress rapidly to decerebrate condition and most die before 2 years old. In juvenile or adult form of disease, patients show the signs of progressive walking problems, spastic paraparesis, cerebellar ataxia and visual failure. In children with infantile onset KD, brain MRI shows symmetric signal abnormalities in the periventricular region of the posterior cerebral hemispheres and in dentate nucleus and cerebellar white matter. In those with juvenile or adult onset disease, atrophy and increased T2 signal in white matter is present, but the dentate and cerebellum are generally spared. Brain magnetic resonance spectroscopy (MRS) shows elevation of myo-inositol and cholin- containing coumpounds in affected white matter. Spinal involvement may be evident on MRI as abnormal contrast enhancement of the lumbosacral nerve roots. Abnormalities of brainstem auditory and visual evoked potentials are present. Motor nerve conduction velocity of peripheral nerves is usually prolonged and the protein content of CSF is elevated. Deficient activity of galactoceramide β-Galactosidase in leukocytes or cultured fibroblasrs confirm the diagnosis. Molecular genetic test is available for genetic counseling. There is no specific treatment for symptomatic patients with infantile form of KD. Supporting care is only option to manage irritability and spasticity. Hematopoetic stem cell transplantation from unrelated donor slows the course of disease in infantile form of KD diagnosed before the symptoms start. Newborn screening has been recommended for early detection and intervention by bone marrow transplantation to improve outcome. However the utility of screening is limited because neither enzyme activity nor knowledge of the genetic mutation can reliably predict phenotype. Prenatal diagnosis is prepared by measuring GALC activity in a chorionic villi sample or cultured amniocytes. [ABSTRACT FROM AUTHOR]

Objective: Febrile convulsions (FC) are the most frequent seizure disorder in children. Some studies have detected serum electrolyte disturbances in patients with FC. This study determines serum electrolytes, renal function tests, and frequency of urinary tract infection in hospitalized children with FC., Materials & Methods: In this descriptive, cross sectional study, we evaluated 291 children with FC admitted to the Neurology ward of Ali-Asghar Children's Hospital from 2008- 2013. Data was recorded on age, sex, type (simple, complex), and recurrence of seizures, family history of FC and epilepsy, serum electrolytes, renal function tests, and urinary tract infections., Results: A total of 291 patients with diagnosis of FC were admitted to our center. Of these 291 patients, 181 (62.2%) were male. The mean age was 24.4 ± 14.6 months. There were simple, complex, and recurrent FCs in 215 (73.9%), 76 (26.1%) and 61 (21%) of patients, respectively. Urinary tract infections (UTI) were found in 13 (4.5%) patients, more present in females (p-value = 0.03) and under 12 months of age (p-value = 0.003). Hyponatremia, hypocalcemia, and hypokalemia was detected in 32 (11%), 16 (5.5%), and 4 (1.4%) of cases, respectively. Twentyfour (8.2%) patients had a glomerular filtration rate less than 60 ml/min/1.73m2. There were no abnormalities in serum magnesium, BUN, and creatinine levels., Conclusion: During FCs, mild changes may occur in renal function but a serum electrolyte evaluation is not necessary unless patients are dehydrated. In children with FC, urinary tract infections should be ruled out.

Objective: Febrile seizures (FS) are the most common type of childhood seizures, affecting 2-5% of children. As the seizure may be the sole presentation of bacterial meningitis in febrile infants, it is mandatory to exclude underlying meningitis in children presenting with fever and seizure. To determine the frequency of meningitis in children with FS and related risk factors, the present study was conducted at Ali-Asghar Children's Hospital., Materials & Methods: The records of children aged from 1-month-6 years of age with fever and seizure admitted to the hospital from October 2000-2010 were studied. The charts of patients who had undergone a lumbar puncture were studied and cases of meningitis were selected. The related data was collected and analyzed with SPSS version 16., Results: A total of 681 patients with FS were known from which 422 (62%) lumbar punctures (LP) were done. Meningitis (bacterial or aseptic) was identified in 19 cases (4.5%, 95% CI 2.9-6.9 by Wilson- Score internal) and bacterial meningitis in 7 (1.65%, 95% CI 0.8-3.3). None of the patients with bacterial meningitis had meningeal irritation signs. Complex FS, first attack of FS, and impaired consciousness were more common in patients with meningitis when compared to non- meningitis patients., Conclusion: Meningitis is more common in patients less than 18 months presenting with FS; however, complex features of seizures, first attack of FS, or impaired consciousness seem significant risk factors for meningitis in these children and an LP should be considered in this situation.

Objective: Seizure is an emergency in pediatrics. It really matters to the parents of the involved child to have information about the causes, management and prognosis. First unprovoked seizures (FUS) are seizures that occur in patients without fever, trauma or infection. Due to the rapid improvement in diagnostic techniques in the last few decades, the etiology will be revealed and this term will no longer exist. This Study was designed to evaluate brain imaging findings in FUS patients., Materials & Methods: Ninety-six children with FUS, who were admitted in three major children's hospitals in Tehran, underwent brain imaging and were enrolled into the study. The decision about the type of imaging (CT or MRI) was based on the patient's medical and financial conditions. An expert radiologist in the field of pediatric neuroimaging interpreted the images., Results: Altogether, 27.1% had abnormal findings of which 29.2% were in the brain MRI group and 14.3% were in the brain CT scan group. Abnormal results were gliosis (10.4%), hemorrhage (4.2%), dysgenesis (2.1%), dysmyelination (7.3%), encephalomalacy (1%), atrophy (5.2%) and infarction (2.1%). In some patients, the lesions were in 2 or 3 sites and some had more than one type of lesion. There was no association between the duration, age and type of seizure and imaging abnormlities. However, we found an association between the location of the lesion and the type of seizure., Conclusion: We recommend brain imaging in all patients with FUS and apart from some exceptions, brain MRI is superior to CT.