Iranian Journal of Child Neurology最新文献

Objectives: Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune demyelinating disease of the central nervous system. While NMOSD predominantly affects adults, pediatric-onset NMOSD (PONMOSD) cases are increasingly recognized, necessitating a better understanding of the disease in this population. This study aims to provide a comprehensive insight into the manifestations and management of PONMOSD.

Material & methods: This study was conducted at the Isfahan MS Clinic, Iran, recruiting 182 NMOSD patients between March 2021 and March 2022. Board-certified neurologists performed diagnosis and examination, applying the 2015 NMOSD diagnostic criteria. Clinical data were collected and analyzed, including demographic information, onset symptoms, family history, treatment, and MRI findings.

Results: Eighteen patients with PONMOSD (9.9% of the total) were identified. The study cohort had a female-to-male ratio 2.6:1, with the most common onset symptoms being optic neuritis (ON) and transverse myelitis (TM). AQP4-Ab was positive in 66.7% of the patients, with longitudinally extensive transverse myelitis (LETM) being the most common MRI finding. Azathioprine and Rituximab were the most commonly used treatments in patients, respectively. Treatment response was generally favorable, with most patients responding to therapy.

Conclusion: The present study provides valuable insights into the clinical characteristics and management of pediatric-onset NMOSD. Despite challenges in diagnosis and treatment, early recognition and appropriate management strategies can lead to improved outcomes in this population. Further research is needed to optimize diagnostic criteria and therapeutic approaches for pediatric NMOSD.

Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurodegenerative disorder caused by riboflavin transporter genes SLC52A2 and SLC52A3 variants. It manifests as a combination of cranial nerve palsies and sensorineural hearing loss. This study presents the case of a 5.5-year-old boy with progressive swallowing difficulties, ptosis, severe hearing loss, and a progressive speech disorder. Remarkably, he showed a significant response to high-dose riboflavin supplementation. Subsequent genetic testing confirmed the diagnosis. Whole exome sequencing identified a homozygous missense variant, [c.239G>A; (p.Gly80Asp)], in the SLC52A3, consistent with BVVL 1. It is essential to remember that BVVL is a set of sensorineural hearing loss and a variety of cranial nerve palsies. Riboflavin should be started as soon as possible because it has a crucial role in neuronal preservation and even reverses the disease.

Objectives: Cerebral palsy (CP) is a neurological disorder causing impaired movement control. Constipation is a common issue among these patients, with the prevalence ranging from 26% to 74%. This study aims to investigate the prevalence of constipation, examine associated symptoms, and compare the effects of commonly used drugs, including Lactulose and Polyethylene Glycol (PEG), in children with CP. These drugs can improve constipation management in this population and prevent serious complications, such as intestinal obstruction and bleeding.

Materials & methods: The present research was a prospective cross-sectional study of 48 children and adolescents aged 1 to 15 with CP. According to our definition of constipation based on the ROME IV criteria, the prevalence of constipation in children with CP was calculated. Patients were randomly divided into two groups: Group 1 received treatment with PEG, while Group 2 received treatment with Lactulose. The patients were followed up one month later and then every three months to assess treatment response and monitor clinical symptoms.

Results: At both 12 and 24 weeks following the initiation of the treatment, a significant increase in the frequency of defecation per week was observed, accompanied by a notable decrease in the frequency of fecal incontinence in both groups. After 24 weeks of treatment, the defecation frequency increased from 1.5 to 6.3 in Group 1 (PEG group) and 1.6 to 5.7 in Group 2 (Lactulose group). Fecal incontinence reduced from initial values of 1.8 and 1.9 to 1.2 and 1.5 in Groups 1 and 2, respectively.

Conclusion: This study confirms that constipation is a common problem among children with CP. According to the obtained findings, PEG appeared to be more effective than Lactulose in managing constipation in children with CP.

Objectives: Traumatic brain injury (TBI) is one of the most common types of brain injuries associated with cognitive impairments. Functional magnetic resonance imaging (fMRI) studies can provide a unique opportunity to examine brain connectivity patterns and understand the neural substrates of cognitive outcomes following traumatic injury. Therefore, this study aims to determine changes in functional connectivity patterns in patients with TBI compared to healthy individuals using two graph models, adaptive dense subgraph discovery (ADSD) and variance component.

Materials & methods: This study used fMRI data downloaded from https://openneuro.org. These data included 14 patients with TBI aged between 18 and 36 and 12 healthy individuals (female: N=6, male: N=6) aged between 19 and 52. Out of the 74 regions examined, a cluster of 18 regions related to TBI was identified using the ADSD model. Subsequently, these identified regions were used as input for the variance component model to investigate changes in connectivity patterns.

Results: Functional connectivity between an 18-brain region cluster, such as the Rectus (Left, Right), Supp_Motor_Area (Left, Right), and Middle Cingulum (Left, Right), differed between the patient and healthy groups. Based on the analysis of functional connectivity between pairs of brain regions, 153 connections between pairs of brain regions were compared in the two groups, out of which 63 connections showed significant differences between the two groups. Compared to other regions, Supp_Motor_Area_Right and Rectus_Left had more connections.

Conclusion: The study's results indicate that the functional connectivity between the Cingulum, Hippocampus, Fusiform, Supp_Motor_Area, and Precentral regions differs between the two groups. Since these regions are involved in processes such as memory, learning, spatial orientation, face recognition, coordination, and motor control, changes in their functional connectivity may lead to impairments in these areas.

Several circumstances, including the etiology of epilepsy, its early onset, recurrent seizures, and the use of anti-seizure medications (ASMs), can lead to cognitive impairment in people with epilepsy. Studies indicate that the etiology of epilepsy may be more closely associated with cognitive problems than the ASMs. However, considering long-term treatment in pediatrics and their developing nervous systems, it is critical to understand the cognitive effects of each anti-seizure medication. Significant methodological challenges exist in studying the cognitive effects of ASMs. Accordingly, this review aims to give a broad overview of recent studies on cognitive impairment caused by first- and second-generation ASMs.

Rafiq syndrome is a congenital disorder of glycosylation type II that develops due to mutations in the Mannosidase Alpha Class 1B Member 1 (MAN1B1) gene encoding α 1,2-mannosidase. In the literature, 45 patients have been reported to date. This study presents a patient with some phenotypic traits that differ from previously reported patients with Rafiq syndrome.Since the patient was not diagnosed despite detailed examinations, whole exome sequencing was performed. The patientss' homozygous c.1000 C>T (p.Arg334Cys) pathogenic variant was detected in the MAN1B1 gene (NM_016219.5), which was consistent with Rafiq syndrome. Our patient's clinical findings were mainly similar to those of previously reported patients. However, our patient had feeding difficulty that started to improve after the fifth month and persistent hyperekplexia . Feeding difficulty and hyperekplexia concomitant to MAN1B1 gene mutation are reported for the first time. More extensive case series are needed to understand whether these findings are part of the syndrome or incidental comorbid conditions.

Objectives: Binaural processing deficits are commonly observed in children with specific learning disabilities (SLD). These deficits can significantly hinder learning, specifically in noisy environments, making rehabilitating binaural processing crucial. This study aimed to implement an auditory training program based on binaural interaction tasks at the brainstem level in children with learning disabilities who exhibit binaural processing issues and to assess its effectiveness.

Materials & methods: A sample of fourteen children diagnosed with SLD was randomly divided into intervention (n=7) and control groups (n=7). The intervention group participated in a 12-week auditory training program based on binaural interaction. The training exercises were designed with modifications to a test battery classified as assessments of binaural interaction. Pre- and post-intervention assessments included masking level difference and Persian auditory recognition of words-in-noise tests.

Results: The Wilcoxon signed-rank test showed a statistically significant change in the masking level difference and Persian auditory recognition of words-in-noise results from pre- to post-intervention within the intervention group. Additionally, a nonparametric analysis of covariance indicated a significant difference in post-intervention outcomes between the two groups, with both assessments showing a meaningful effect from the rehabilitation (p < 0.05).

Conclusion: This study's findings suggest that computerized auditory training focused on binaural interactions may effectively address binaural processing challenges in children with SLD. Further research is recommended to confirm these initial findings and explore the benefits of binaural auditory training for social communication in this population.

Objectives: Epilepsy is one of the most common health problems in Iran. Considering this issue, the present study aimed to investigate New-Onset Refractory Status Epilepticus (NORSE) and Febrile Infection-Related Epilepsy Syndrome (FIRES) cases in children and evaluate the neurological outcome, referring to the special care department of Namazi Hospital, Shiraz, Iran.

Materials & methods: Eight hundred seventy-three patients with status epilepticus (SE) referred to the medical centers of Shiraz Medical Sciences University were retrospectively examined from September 2021 to December 2022. After obtaining consent, the patients completed the questionnaire based on the literature review. Research data were collected and analyzed using SPSS version 23 software, t-test, Pearson correlation, and chi-square statistical methods.

Results: The obtained results revealed that out of 873 patients with SE, 140 patients had inclusion criteria for NORSE and FIRSE (63 had NORSE, and 30 had FIRSE). The developmental status of the patient was good in 26.4% of cases and had minimal complications in 21.4% of cases. Mortality in the studied subjects was 33.6% (47 patients), and seizures were controlled in 63 patients (64.9). Furthermore, the results showed that the cause of epilepsy in 47 people (33.6%) of the investigated people was infection/inflammation. Furthermore, no correlation was observed between the gender and age of the patients and the investigated outcomes (p-value>0.05). Only in seizure control, a significant difference was observed between the females and males (p-value<0.05).

Conclusion: This study concluded that the rate of NORSE and FIRES in the examined children is high. Moreover, one-third of these patients will not have a chance to survive. The results of the present study emphasize the need for more comprehensive studies in this field.

Cobalamin, commonly known as vitamin B12, is a crucial micronutrient synthesized predominantly by a few microorganisms. In the human body, Vitamin B12 (Cobalamin) is essential for DNA synthesis and is required as a cofactor for functioning two crucial enzymes, methylmalonyl-CoA mutase and methionine synthase. The deficiency in these cobalamin-derivated coenzymes leads to enzyme activity dysfunction and an accumulation of their respective substrates, methylmalonic acid, and homocysteine,harming the brain and many other organs. Furthermore, deficiency in this micronutrient can lead to a wide spectrum of hematologic and neuropsychiatric disorders. In addition to vitamin B12 deficiency, some genetic disorders block the intracellular processing of Cobalamin to its cofactors and lead to symptoms somewhat similar to vitamin B12 deficiency. These disorders are called Cobalamin metabolism disorders. Many of them are reversible when diagnosed early and treated promptly. This group's most common and well-understood disease is Cobalamin C (CblC) metabolism disorder. This case series report aimed to provide a comprehensive overview of diverse clinical presentations within the spectrum of CblC metabolism disorder and the introduction of two cases of late-onset presentation with ataxia and repeated seizures as the first manifestation of the disorder. Few case reports are available, specifically in children, describing cerebellar ataxia and seizure as the first manifestations of late-onset CblC metabolism disorder. Additionally, this report sought to contribute to the existing literature by highlighting potential areas for timely recognition and targeted clinical and therapeutic interventions, thereby enhancing the comprehensive care and support for individuals affected by CblC metabolism disorder.