Autoimmune Encephalitis Due to COVID-19 in a Young Patient

  Autoimmune encephalitis is an inflammatory condition caused by different factors including viral infections that is diagnosed after ruling out other causes of encephalitis. In the current study, we reported a novel case of autoimmune encephalitis in an 11-year-old girl that presented with seizure, cognitive dysfunction and neurological impairments. During the admission, we observed high levels of anti- N-methyl-D-aspartate receptor (NMDAR) antibody in the cerebrospinal fluid (CSF). She had also positive anti COVID-19 IgG. Therefore, the diagnosis of COVID-19 induced autoimmune encephalitis was certain. The patient received anti-epileptic and anti-viral drugs and also IVIG and rituximab and was discharged with remission. The diagnosis of the case was made by anti-NMDAR antibodies that highlights the importance of this diagnostic tool. Similar cases have been reported earlier but the point of this case was her younger age compared to the previous cases and development of neurological deficit before COVID-19 presentations

L-carnitine versus Propranolol for pediatric migraine prophylaxis

  Objective Carnitine plays a significant role in fatty acid transportation in mitochondria and has been shown to have a prophylactic effect on adult migraine. The aim of this randomized controlled trial was to compare and evaluate the effects of L-carnitine supplementation versus propranolol in the prevention of pediatric migraine. Materials & Methods A total of 60 pediatric patients with episodic migraine were randomly allocated to 2 independent groups to receive either 50 mg/kg/day L-carnitine or 1 mg/kg/day propranolol as a prophylactic drug. Frequency, severity, and duration of migraine attacks and headache disability based on the Pediatric Migraine Disability Assessment Score (PedMIDAS) were studied at the baseline and after 2, 4, and 12 weeks. Results A total of 56 patients were evaluated in the study: 23 girls (41%) and 33 boys (59%) with a mean age of 9.7 ± 2.1 years. Frequency of migraine headaches per month reduced from 11.4 ± 7.1 to 5.34 ± 2.4 in the L-carnitine group and from 10.7 ± 6.2 to 4.96 ± 3.9 in the propranolol group by the end of the study. Headache severity score was also reduced from 19.38 ± 14 to 2.88 ± 7.4 and from 12.92 ± 13 to 0.82 ± 1.3 in the L-carnitine and propranolol groups, respectively. We found a significant decrease in frequency, severity, and duration of headache attacks in both groups (P < 0.01). No significant difference was observed between the efficacies of the 2 drugs. Conclusion This study concluded that L-carnitine supplementation can play a prophylactic role in the management of pediatric migraine

Prevalence of developmental delay in apparently normal preschool children in Isfahan, Iran

How to Cite This Article: Yaghini O, Kelishadi R, Keikha M, Niknam N, Sadeghi S, Najafpour E, Ghazavi MR. Prevalence of Developmental Delay in Apparently Normal Preschool Children in Isfahan, Central Iran. Iran J Child Neurol. Summer 2015;9(3):17-23.AbstractObjectiveDevelopmental delay screening is essential in pediatric medicine. The purpose of this study was to estimate the developmental delay in apparently normal children at entry to kindergarten.Materials & MethodsIn this cross- sectional study conducted in 2013, the developmental status of a sample of children who entered to kindergarten at the age of 4-60 months were evaluated by the Persian version of ages and stages questionnaires (ASQ) in Isfahan county, central Iran.ResultsTotally 680 children were enrolled, 11.8% of them were suspected to delayed in at least one domain and 1.3% and 1.2% in two and three domains, respectively. Developmental delay was in the following items: 5% in problem solving; 4.9% in fine motor; 3.2% in gross motor, 2.2% and 1.2% in personal – social and communication domains, respectively.Conclusion Considerable proportions of apparently normal children who are entering kindergarten had developmental delay, which could be detected by evaluation with appropriate screening tools

The Effect of the Ketogenic Diet on the Growth and Biochemical Parameters of the Children with Resistant Epilepsy

ObjectiveThe aim of this study was to evaluate the effect of the ketogenic diet on the growth parameters of the children with resistant epilepsy.Materials & MethodsA total of 36 children with resistant epilepsy who were 2 to 7 year old were put on the ketogenic diet. Their growth and biochemical parameters were studied at the beginning of the study and after 3 months.ResultsWeight decreased in all patients. Serum levels of hemoglobin, calcium, and blood sugar decreased significantly but remained in the normal range. Creatinine did not change, but BUN showed a significant increase.ConclusionWe can lower the complications of ketogenic diets by using more unsaturated fat, more water, and more minerals.

Efficacy of The Ketogenic Diet as A Therapy for Intractable Epilepsy in Children

ObjectiveTo determine the role of ketogenic diet in the treatment of intractable epilepsy in children.Materials & MethodsSixty six consecutive children (1-16 years old) with intractable epilepsy whose seizure were not neurodegenerative nor febrile in origin were recruited. They received the ketogenic diet and we evaluated its effect on seizure frequency for 3 months. All these children had more than five seizures per week despite adequate therapy with at least 3-4 anticonvulsant medications. Carbohydrates were initially limited to 10 gr/day and fats constituted 75% of the total energy requirement. Response to the diet was categorized as free of seizure, 99%-75%, 50%-75%, 25%-49% and lower than 25% reduction (resistant to therapy).ResultsFifty five patients (84%) out of 66 children initiating the diet continued it after 1 week. After 3 months, 80% of the patients kept the diet. After one week, one month and 3 months, there was a more than 50% decrease in the frequency of the seizures in 40 (60%), 50 (75%) and 39 (59%) of the patients, respectively. Three patients (4.5%) were seizure-free after 1 week, 12 (18%) were seizure-free after one month and 12 (18%) were seizure-free after three months and a significant relationship was found between seizure reduction and the type of epilepsy (p<0.017).ConclusionThe ketogenic diet should be considered as an alternative therapy for children with intractable seizures. It is more effective than many of the new anticonvulsant medications and is well tolerated by children andtheir families

Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia

How to Cite This Article: Najafi R, Hashemipour M, Mostofizadeh N, Ghazavi MR, Nasiri J, Shahsanai A, Famori F, Najafi F, Moafi M. Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia. Iran J Child Neurol. Spring 2016; 10(2): 74-81.AbstractObjectiveMetabolic disorders, which involve many different organs, can be ascribed to enzyme deficiency or dysfunction and manifest with a wide range of clinical symptoms. This study evaluated some of the demographic and clinical findings in pediatric patients affected by organic acidemia.Materials & MethodsThis cross-sectional study was part of a larger study conducted in patients with metabolic disorders during a period of 7 years from 2007 to 2014 in Isfahan Province, Iran. Our study covered a wide range of cases from newborn infants (one-week old) to adolescents (children up to the age of 17 years). This study evaluated patients’ demographic information, history of disease, developmental and educational status, clinical and general conditions. Phone and in-person interviews were used to gather information.ResultsOut of 5100 patients screened in this study, 392 patients were affected by one of the different metabolic disorders and 167 individuals were diagnosed as organic acidemia. Propionic acidemia/methyl malonic acidemia (PA/MMA) was the most prevalent form of this metabolic disorder. The frequency of consanguinity was 84.7% in the group of patients. The mortality rate was 18.8% in patients with organic academia.ConclusionEach of the metabolic diseases, as a separate entity, is rare; nevertheless, in aggregate they have a somewhat high overall prevalence. These diseases result in mental and developmental disorders in the absence of quick diagnosis and initiation of treatment. Furthermore, more mutations should be identified in societies affected by consanguinity. 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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated to torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with TOR1A-AMC5 have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has not been conducted. Here, we assess the clinical, radiological and molecular characteristics of 57 individuals from 40 families with biallelic variants in TOR1A. Median age at last follow-up was 3 years (0-24 years). Most individuals presented with severe congenital flexion contractures (95%) and variable developmental delay (79%). Motor symptoms were reported in 79% and included lower limb spasticity and pyramidal signs, as well as gait disturbances. Facial dysmorphism was an integral part of the phenotype, with key features being a broad/full nasal tip, narrowing of the forehead and full cheeks. Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to congenital arthrogryposis, global developmental delay, intellectual disability, absent speech and inability to walk. In a subset, the presentation was consistent with fetal akinesia deformation sequence with severe intrauterine abnormalities. Survival was 71% with higher mortality in males. Death occurred at a median age of 1.2 months (1 week - 9 years) due to respiratory failure, cardiac arrest, or sepsis. Analysis of brain MRI studies identified non-specific neuroimaging features, including a hypoplastic corpus callosum (72%), foci of signal abnormality in the subcortical and periventricular white matter (55%), diffuse white matter volume loss (45%), mega cisterna magna (36%) and arachnoid cysts (27%). The molecular spectrum included 22 distinct variants, defining a mutational hotspot in the C-terminal domain of the Torsin-1A protein. Genotype-phenotype analysis revealed an association of missense variants in the 3-helix bundle domain to an attenuated phenotype, while missense variants near the Walker A/B motif as well as biallelic truncating variants were linked to early death. In summary, this systematic cross-sectional analysis of a large cohort of individuals with biallelic TOR1A variants across a wide age-range delineates the clinical and genetic spectrum of TOR1A-related autosomal-recessive disease and highlights potential predictors for disease severity and survival