Background. Developmental disorders are failure or inability to acquire various age-specific skills at expected maturational age, which affects about 5–10% of preschool children. One of the most important methods for evaluation of developmentally delayed children is neuroimaging, especially, brain magnetic resonance imaging (MRI) that provides useful information regarding brain tissue structures and anomalies. Method and Material. In this study, hospital records of 580 developmentally delayed children (aged 2 months to 15 years) who admitted in pediatric ward of Golestan Hospital from 1997 to 2009 were selected. Information such as age, MRI findings were collected in the questionnaire and statistically analyzed. Results. Total, 580 children including 333 males (57.4%) and 247 females (42.6%) were studied. Abnormal brain MRI was observed in 340 (58.6%) cases (204 Males, 136 females). The finding includes nonspecific in 38 (6.6%), congenital and developmental anomalies of brain in 39 (6.7%), recognizable syndromes in 3 (0.5%), neurovascular diseases or trauma in 218 (37.6%), and metabolic or neurodegenerative diseases in 42 (7.2%) cases. Conclusion. Because 60% of all study groups showed abnormal brain MRI, using this method could be effective in diagnosis, management, and almost prognosis determination processes.
The hereditary spastic paraplegias (HSP) are among the most genetically diverse of all Mendelian disorders. They comprise a large group of neurodegenerative diseases that may be divided into ‘pure HSP’ in forms of the disease primarily entailing progressive lower-limb weakness and spasticity, and ‘complex HSP’ when these features are accompanied by other neurological (or non-neurological) clinical signs. Here, we identified biallelic variants in the transmembrane protein 63C (TMEM63C) gene, encoding a predicted osmosensitive calcium-permeable cation channel, in individuals with hereditary spastic paraplegias associated with mild intellectual disability in some, but not all cases. Biochemical and microscopy analyses revealed that TMEM63C is an endoplasmic reticulum-localized protein, which is particularly enriched at mitochondria–endoplasmic reticulum contact sites. Functional in cellula studies indicate a role for TMEM63C in regulating both endoplasmic reticulum and mitochondrial morphologies. Together, these findings identify autosomal recessive TMEM63C variants as a cause of pure and complex HSP and add to the growing evidence of a fundamental pathomolecular role of perturbed mitochondrial-endoplasmic reticulum dynamics in motor neurone degenerative diseases.
A perfectly healthy preschool girl presented with acute repetitive focal aware motor seizures, while her brain MRI showed a lesion in the left posterior cortex. After a number of investigations, her cerebrospinal fluid PCR was positive for SARS-CoV-2. Despite receiving at least four anti-seizure medications at appropriate dosages, the seizures continued, and just after administering intravenous immunoglobulin, her seizures stopped. This dramatic response to intravenous immunoglobulin may indicate a hypothetical inflammatory process in the patient's cortex caused by COVID-19.
Introduction: Vitamin D deficiency has been observed in patients with migraine; however, the results of previous studies are controversial. We aimed to evaluate vitamin D status in a group of children with migraine and to compare them with a group of healthy control. Material and methods: We conducted a prospective case-control study to assess the vitamin D status in children with migraine comparing them with age-and sex-matched healthy controls. Thirty children with migraine and 30 healthy controls were enrolled in the study. The age range was 6-14 years. The vitamin D status was classified as optimal (> 20 ng/ml), insufficient (11-20 ng/ml), and deficient (≤ 10 ng/ml). We also tried to assess the correlation between vitamin D status and the severity and frequency of headache attacks. Results: In the migraine group, five patients (3 girls and 2 boys) had optimal vitamin D, 20 (10 girls and 10 boys) had insufficiency and five (4 girls and 1 boy) were deficient. In the control group, six patients (4 girls and 2 boys) had optimal vitamin D, 19 (8 girls and 11 boys) had insufficiency, and five (4 girls and 1 boy) were deficient. Vitamin D status had no significant difference between groups (p = 0.943). We could not find any correlation between vitamin D status and severity (Pearson correlation, p = 0.513) and frequency (Pearson correlation, p = 0.422) of migraine attacks. Conclusions: Vitamin D insufficiency and deficiency are equally common in children with migraine and healthy controls. We need well designed case control studies with large sample sizes to properly assess the probable pathophysiologic role of vitamin D in children with migraine.
We conducted a case–control study to determine the effects of migraine on quality of life (QOL) in children. Participants, aged between 6 and 18 years, were assigned to migraine (n = 70) and control (n = 70) groups. We used a translated version of Pediatric Quality of Life Inventory 4.0 questionnaire. From the children's perspective, the overall QOL scores in all domains were lower in children with migraine. Children in the migraine group had significant lower scores in the social, emotional, and physical functioning (p-value < 0.05) than control group. Interestingly, a significant difference in the educational performance was not seen (p-value = 0.101). Relative to the parents' responses and children, the overall scores in all domains were lower in children with migraine. Statistically significant lower scores were found only in emotional and physical domains (p-value < 0.05). The results of this study indicate that migraine imposes a substantial negative impact on the different aspects of QOL in children.
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