Electroencephalography, Magnetic Resonance Imaging and Response to Treatment in Children with Focal Seizures A Prospective Cohort Study.

Objectives: This study aimed to evaluate patients with focal seizures, their clinical manifestations, and their response to treatment, then compared the accuracy of electroencephalography and Magnetic Resonance Imaging (MRI) to assess the cost-effectiveness of the latter. Materials & Methods: After selecting the appropriate individuals, the authors obtained the data by clinically evaluating the cases and interviewing them or their caretaker(s) on admission and the six-month follow-up visit. The researchers then analyzed the obtained data. Results: Most cases (88.4%) had idiopathic seizures. A positive family history of seizures was observed in eight cases (5.4%). Respectively, the occipital, frontal, and temporal lobes showed the highest frequency of abnormalities on electroencephalography, while periventricular leukomalacia was the highest abnormal MRI finding (4.1%). However, in 87.8% of cases, this modality's results were normal. No recurrence of seizures was observed in 116 cases (78.9%) on the six-month follow-up visit, pointing towards an appropriate response to treatment. Conclusion: While this study revealed that most had normal MRI, reporting an abnormality in electroencephalography was a more prevalent occurrence. This finding undermines the cost-effectiveness of the former modality, even though its importance in diagnosing the underlying abnormalities necessitates further studies regarding the subject at hand. Furthermore, the study of age groups showed that treatment response is less desirable in children under two years of age, suggesting more intense workups.

Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature.

Background: Primary deficiency of coenzyme Q10 deficiency-4 (CoQ10D4) is a heterogeneous disorder affecting different age groups. The main clinical manifestation consists of cerebellar ataxia, exercise intolerance, and dystonia. Case report: We provide a case of adolescence-onset ataxia, head tremor, and proximal muscle weakness accompanied by psychiatric features and abnormal serum urea (49.4 mg/dL), lactate (7.5 mmol/L), and CoQ10 level (0.4 µg/mL). Brain-MRI demonstrated cerebellar atrophy, thinning of the corpus callosum, and loss of white matter. Whole exome sequencing showed a homozygous missense mutation (c.911C>T; p.A304V) in CoQ8A gene which is a rare mutation and responsible variant of CoQ10D4. After supplementary treatment with CoQ10 50 mg/twice a day for 2 months the clinical symptoms improved. Conclusion: These observations highlight the significance of the early diagnosis of potentially treatable CoQ8A mutation as well as patient education and follow-up. Our findings widen the spectrum of CoQ8A phenotypic features so that clinicians be familiar with the disease not only in severe childhood-onset ataxia but also in adolescence with accompanying psychiatric problems.

Cerebrovascular accident in a child with precursor B-cell acute lymphoblastic leukemia and coronavirus disease 2019: a case report.

BACKGROUND: Coronavirus disease 2019 can lead to rare but severe and life-threatening diseases in susceptible high-risk populations, including patients with immunodeficiency. A rare event in this report is stroke following COVID-19 disease in a patient with an immunocompromised background due to leukemia and anti-cancer treatments. CASE PRESENTATION: A 6-year-old iranian girl with precursor B-cell leukemia receiving vincristine therapy presented with fever and absolute neutrophil count < 500. Her severe acute respiratory syndrome coronavirus 2 polymerase chain reaction test was positive. During hospitalization, she had abrupt onset tachypnea, reduced O2 saturation, and generalized tonic-clonic seizures treated with phenytoin and levetiracetam. Right parietal lobe ischemia was found on a brain computed tomography scan, and the cerebrospinal fluid polymerase chain reaction test was positive for severe acute respiratory syndrome coronavirus 2. Several days later, she developed lower extremity paralysis and speech impairment, so speech therapy and physiotherapy were initiated. The patient also received dexamethasone, mannitol, heparin, and remdesivir. She was discharged with enoxaparin and levetiracetam. Chemotherapy resumed 2 weeks following discharge. Her speech and walking improved after 10 months of follow-up, and bone marrow aspiration showed total remission. CONCLUSION: Owing to the link between coronavirus disease 2019 and hematologic cancers with hypercoagulopathy and the tendency of patients with leukemia to have coronavirus disease 2019 complications, children with leukemia as well as suspected coronavirus disease 2019 must be hospitalized to prevent blood clot formation.

Epidemiology of Guillain-Barré Syndrome in Iranian Children Aged 0-15 Years (2008-2013).

OBJECTIVE: Guillain-Barré Syndrome (GBS) is an acute inflammatory polyneuropathy characterized by a rapid progressive symmetric weakness. The GBS is the most common cause of acute flaccid paralysis (AFP) in most parts of the world. This study was carried out to investigate the epidemiological features of GBS in Iranian children. MATERIALS & METHODS: The data were extracted using the AFP surveillance system that is a national screening program to detect all cases of AFP aged 0-15 years around the country. National Population Statistics data and AFP demographic data during 2008-2013 intervals were obtained from the relevant authorities in the Ministry of Health in Iran. The GBS cases were then extracted from the aforementioned database. The Chi-square test and Fisher's exact test were used for statistical analysis. RESULTS: A total of 1884 cases of GBS were identified in the study period, and the average annual incidence rate was 1.72 per 100,000 individuals. The highest incidence rate was within the range of 0-5 years. There was no statistically significant relationship between the incidence of GBS and the season in the whole country. CONCLUSION: High costs of GBS treatment, morbidity and occasional mortality, and number of new cases, which is estimated to be approximately 300 individuals per year, need the particular attention of the health system.

The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family.

OBJECTIVE: Adrenoleukodystrophy disorder is one of the x-linked genetic disorders caused by the myelin sheath breakdown in the brain. In this study, we present 4 yr experience on this disorder. MATERIALS & METHODS: The patients diagnosed as adrenoleukodystrophy in the Neurology Department of Mofid Children's Hospital in Tehran, Iran from 2010 to 2014 were enrolled into the study. The disorder was confirmed by neuroimaging and clinical findings along with genetic and neurometabolic assessment at Reference Laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of populous family with adrenoleukodystrophy. RESULTS: All of the patients were one populous family with high rate of consanguineous marriages. This disorder was confirmed by genetic assessment, VLCFA and brain MRI. c.253_254insC, p.R85Pfs112* was found in heterozygote state and the VLCFA assessment showed the typical pattern for adrenoleukodystrophy/ adrenomyeloneuropathy. This diagnosis was in agreement with the family history and the clinical history of the patient. Since there have been a number of cases in patient's family in the past, so intensive follow-up on the family especially detection the female members of the family of childbearing age was recommended. The amount of C-26, C24/C22 and C26/C22 was elevated. All patients with the same genotype had wide ranges of clinical presentation. CONCLUSION: Early diagnose of this disease might help us for early intervention and prenatal diagnosis for the disease in next siblings.

The clinical features and diagnosis of Metachromatic leukodystrophy: A case series of Iranian Pediatric Patients.

OBJECTIVE: Metachromatic leukodystrophy disorder (MLD) is one of the rare neurometabolic diseases caused due to lack of saposin B and arylsulfatase A enzyme deficiency. MATERIALS & METHODS: Eighteen patients diagnosed as metachromatic leukodystrophy in the Neurology Department of Mofid Children's Hospital in Tehran, Iran between 2010 and 2014 were included in our study. The disorder was confirmed by clinical, EMG-NCV, arylsulfatase A enzyme checking and neuroimaging findings along with neurometabolic and genetic assessment from reference laboratory in Iran. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 18 patients with metachromatic leukodystrophy. RESULTS: From 18 patients, 80% were offspring from consanguineous marriages. A family history of metachromatic leukodystrophy disease was positive for four patients. Twelve patients had late infantile form of this disorder and six patients had juvenile form. A history of tonic type seizure was positive in 20% of the patients and tonic spasm was confirmed with clinical information. Electromyographgraphy (EMG) in 96% of patients was abnormal with demyelinating sensorimotor neuropathy pattern. MRI in all patients showed the leukodystrophic pattern as arcuate fibers sparing and subcortical rim in white matter and periventricular involvement. Our diagnosis was confirmed by EMG-NCV findings with sensorimotor neuropathy pattern and the assessment of arylsulfatase A enzyme function. CONCLUSION: MLD is an inheritance metabolic disorder, which was confirmed by the assessment of arylsulfatase A enzyme function, peripheral blood leukocyte that assessed in a referral laboratory in Iran.

The Clinical Features and Diagnosis of Canavan's Disease: A Case Series of Iranian Patients.

OBJECTIVE: Canavan's disease is a lethal illness caused by a single gene mutation that is inherited as an autosomal recessive pattern. It has many different clinical features especially in the non-Ashkenazi Jewish population. MATERIAL & METHODS: 45 patients were referred to the Pediatric Neurology Department of Mofid Children's Hospital in Tehran-Iran from 2010-2014 with a chief complaint of neuro developmental delays, seizures, and neuroimaging findings of leukodystrophy were included in this study. Magnetic Resonance Spectrometry (MRS) and neuro metabolic assessment from a referral laboratory in Germany confirmed that 17 patients had Canavan's disease. RESULTS: Visual impairment, seizure, hypotonia, neuro developmental arrest, and macrocephaly were the most consistent findings in the patients in this study. Assessments of neuro developmental status revealed that 13 (76%) patients had neuro developmental delays and 4 (24%) patients had normal neuro development until 18 months of age and then their neuro developmental milestones regressed. In this study, 100% of cases had macrocephalia and 76% of these patients had visual impairment. A history of seizures was positive in 8 (47%) patients and began around 3 months of age with the most common type of seizure was tonic spasm. EEGs were abnormal in all epileptic patients. In ten of the infantile group, we did not detect elevated level of N-acetylaspartic acid (NAA) in serum and urine. However, the MRS showed typical findings for Canavan's disease (peaks of N-acetylaspartic acid). CONCLUSION: We suggest using MRS to detect N-acetylaspartic acid as an acceptable method for the diagnosis of Canavan's disease in infants even with normal serum and urine N-acetylaspartic acid levels.

Relationship between migraine and abnormal EEG findings in children.

OBJECTIVE: Migraine is a disabling illness that causes absence from school and affects the quality of life. It has been stated that headache may represent an epileptic event. EEG abnormality is a prominent finding in children with migraine. The aim of this study was to evaluate EEG abnormalities in children with migraine. MATERIALS & METHODS: Two-hundred twenty-eight children were enrolled into the study. Evaluation and following of cases was performed by one physician, paraclinical tests were used to increase the accuracy. The study was conducted under the supervision of pediatric neurology masters and the selected cases were from different parts of the country. RESULTS: Comparing EEG abnormalities in different types of migraine revealed that there is an association between them. There was also a significant difference between EEG abnormalities in different types of aura. Migraine type was associated with the patient's age. Sleep disorders were more common in patients with a positive family history of seizure. CONCLUSION: Our study dosclosed migraine as a common problem in children with abnormalities present in approximately 20% of the patients. Migraine and abnormal EEG findings are significantly associated.