The diversity in the clinical features of children hospitalized with COVID-19 during the nonvariant, Alpha (B.1.1.7), Delta (B.1.617.2), and Omicron (B.1.1.529) variant periods of SARS CoV-2: Caution for neurological symptoms in Omicron variant.

Since the COVID-19 pandemic began, various severe acute respiratory syndrome coronavirus 2 variants have been identified with different characteristics than the nonvariant strain. We retrospectively evaluated the demographic and clinical differences in the cohort of hospitalized COVID-19 children (1 month-18 years old) between March 11, 2020, and September 31, 2022, by the time the variants identified in our country predominate. Bonferroni post hoc analysis was performed to compare the differences between the periods. Of the 283 children in this study, 142 (50.2%) were females. The median age was 36 (interquartile range [IQR]: 7-132) months. Sixty-three (22.2%) patients were hospitalized in the nonvariant period, 24 (8.5%) in the Alpha period, 93 (32.9%) in the Delta period, and 103 (36.4%) in the Omicron period. Fever was the most common symptom in all groups, with no statistically significant differences (p = 0.25). In the Omicron period, respiratory and gastrointestinal symptoms decreased, and neurological symptoms increased significantly compared to other periods: [respiratory symptoms; nonvariant (65.1%) vs. Omicron (41.7%), (p = 0.024)], [gastrointestinal symptoms; Delta (41.9%) vs. Omicron (22.3%), (p = 0.018), [neurological symptoms; Delta (14.5%) vs. Omicron (31.1%), (p = 0.03]. Altered mental status and seizures were more common during the Omicron period compared to the pre-Omicron (nonvariant, Alpha, and Delta) period (p = 0.017 and p = 0.005, respectively). Although the main symptoms in children with COVID-19 were fever and respiratory symptoms, an increase in severe neurological manifestations was seen throughout the Omicron variant period.

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.

BACKGROUND: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses. METHODS: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis. RESULTS: Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and voltage-gated ion channel activity/voltage-gated channel activity, respectively. CONCLUSION: Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients.

Posttraumatic epilepsy in critically ill children with traumatic brain injury.

PURPOSE: The aim of this study was to determine the clinical, laboratory, and radiological factors related with posttraumatic epilepsy (PTE). METHODS: The study is a multicenter descriptive cross-sectional cohort study. Children who followed up for TBI in the pediatric intensive care unit between 2014 and 2021 were included. Demographic data and clinical and radiological parameters were recorded from electronic case forms. All patients who were in the 6-month posttraumatic period were evaluated by a neurologist for PTE. RESULTS: Four hundred seventy-seven patients were included. The median age at the time of trauma was 66 (IQR 27-122) months, and 298 (62.5%) were male. Two hundred eighty (58.7%) patients had multiple traumas. The mortality rate was 11.7%. The mean duration of hospitalization, pediatric intensive care unit hospitalization and mechanical ventilation, Rotterdam score, PRISM III score, and GCS at admission were higher in patients with epilepsy (p < 0.05). The rate of epilepsy was higher in patients with severe TBI, cerebral edema on tomography and clinical findings of increased intracranial pressure, blood transfusion in the intensive care unit, multiple intracranial hemorrhages, and intubated patients (p < 0.05). In logistic regression analysis, the presence of intracranial hemorrhage in more than one compartment of the brain (OR 6.13, 95%CI 3.05-12.33) and the presence of seizures (OR 9.75, 95%CI 4.80-19.83) were independently significant in terms of the development of epilepsy (p < 0.001). CONCLUSIONS: In this multicenter cross-sectional study, intracranial hemorrhages in more than one compartment and clinical seizures during intensive care unit admission were found to be independent risk factors for PTE development in pediatric intensive care unit patients with TBI.

Clinical outcome in an infant with anti-NMDA receptor encephalitis: case report and literature review.

Anti N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune disease that often presents with various neurological and neuropsychiatric symptoms. Although most reported cases occur in children, only a limited number of studies on children are available. The subject of this case report is an 8-month-old female who presented with fever, vomiting, and seizure. She was diagnosed with encephalitis and treated with acyclovir. After 21 days, she showed irritability, seizure, orolingual-facial dyskinesias, choreodystonic movements, hemiparesis, dysphagia, strabismus, lack of interest in light and objects. Clinical signs, neuroimaging findings, and serum analysis of anti-NMDAR antibodies confirmed the diagnosis of anti-NMDAR encephalitis. After the first line of treatment, she showed full recovery. We update the infants with anti-NMDAR encephalitis in the literature. Clinical outcomes suggest that patients with anti-NMDAR encephalitis are mostly poor in the infants, excluding our case. We propose that early and appropriate treatments are critical for timely diagnosis and rapid improvement.

Evaluation of immunization status in patients with cerebral palsy: a multicenter CP-VACC study.

Children with chronic neurological diseases, including cerebral palsy (CP), are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of their disease. This study aims to examine age-appropriate immunization status and related factors in the CP population of our country. This cross-sectional prospective multicentered survey study included 18 pediatric neurology clinics around Turkey, wherein outpatient children with CP were included in the study. Data on patient and CP characteristics, concomitant disorders, vaccination status included in the National Immunization Program (NIP), administration, and influenza vaccine recommendation were collected at a single visit. A total of 1194 patients were enrolled. Regarding immunization records, the most frequently administrated and schedule completed vaccines were BCG (90.8%), hepatitis B (88.9%), and oral poliovirus vaccine (88.5%). MMR was administered to 77.3%, and DTaP-IPV-HiB was administered to 60.5% of patients. For the pneumococcal vaccines, 54.1% of children received PCV in the scope of the NIP, and 15.2% of children were not fully vaccinated for their age. The influenza vaccine was administered only to 3.4% of the patients at any time and was never recommended to 1122 parents (93.9%). In the patients with severe (grades 4 and 5) motor dysfunction, the frequency of incomplete/none vaccination of hepatitis B, BCG, DTaP-IPV-HiB, OPV, and MMR was statistically more common than mild to moderate (grades 1-3) motor dysfunction (p = 0.003, p < 0.001, p < 0.001, p < 0.00, and p < 0.001, respectively). Physicians' influenza vaccine recommendation was higher in the severe motor dysfunction group, and the difference was statistically significant (p = 0.029).Conclusion: Children with CP had lower immunization rates and incomplete immunization programs. Clinicians must ensure children with CP receive the same preventative health measures as healthy children, including vaccines. What is Known: • Health authorities have defined chronic neurological diseases as high-risk conditions for influenza and pneumococcal infections, and they recommend vaccines against these infections. • Children with CP have a high risk of incomplete and delayed immunization, a significant concern given to their increased healthcare needs and vulnerability to infectious diseases. What is New: • Influenza vaccination was recommended for patients hospitalized due to pneumonia at a higher rate, and patients were administered influenza vaccine more commonly. • Children with CP who had higher levels of motor dysfunction (levels 4 and 5) were more likely to be overdue immunizations.

A Neurological Appearance of Celiac Disease: Is There Any Associated Factor?

OBJECTIVE: Celiac disease may present with one or more neurological signs and/or symptoms. We aimed to define the incidence of accompanying neurological manifestations in children diagnosed as having celiac disease. METHODS: The prospective study included 146 children diagnosed as having celiac disease. The medical records (presentation symptoms, clinical findings, serological test, duodenal biopsy results, lack/deficiency of vitamin, tissue type, accompanying autoimmune disorders) and demographic data of all patients were also reviewed. RESULTS: Thirty-five (23.9%) of the 146 celiac patients exhibited one or more neurological findings. Headache (11.6%) and dizziness (6.1%) were the most common symptoms among neurological manifestations. There was a significant difference between the patients with and without neurological manifestations in terms of sex, biopsy result, and tissue type (P < 0.05). Moreover, there was a statistically significant difference between tissue types of the patients with and without headache (P < 0.05). We found that grade 3a by Marsh classification was the most common type among the patients with and without neurological findings in celiac disease. On neuroimaging evaluation of patients, 1 patient with chronic focal ischemic lesion, 1 patient with Chiari type 1 malformation, and 1 patient with subcortical white matter changes were identified. CONCLUSIONS: Pathophysiology of neurological involvement in celiac disease is liable for various neurological findings. This study contributes to data suggesting that female sex, mild histopathological form, and human leukocyte antigen DQ2 heterozygosity are related to neurological manifestations, and also human leukocyte antigen DQ2 heterozygosity is associated with headache in celiac disease.

Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development

Background and aim: The number of reports on the role of tubulin gene mutations (TUBA1A, TUBB2B, and TUBB3) in etiology of malformations of cortical development has peaked in recent years. We aimed to determine tubulin gene defects on a patient population with simple and complex malformations of cortical development, and investigate the relationship between tubulin gene mutations and disease phenotype. Materials and methods: We evaluated 47 patients with simple or complex malformations of cortical development, as determined by radiological examination, for demographic features, clinical findings and mutations on TUBA1A, TUBB2B, and TUBB3 genes. Results: According to the magnetic resonance imaging findings, 19 patients (40.5%) had simple malformations of cortical development and 28 (59.5%) patients had complex malformations of cortical development. Focal cortical dysplasia was the most common simple malformation, lissencephaly was the most common coexisting cortical malformation, and corpus callosum anomalies were the most common coexisting extracortical neurodevelopmental abnormalities. None of the patients had genetic alterations on TUBA1A, TUBB2B, and TUBB3 genes causing protein dysfunction. On the other hand, the frequencies of some polymorphisms were higher when compared to the literature. Conclusion: It is crucial to identify the etiology in patients with malformations of cortical development in order to provide appropriate genetic counseling and prenatal diagnosis. We consider that multicenter studies with higher patient numbers and also including other malformations of cortical development-related genes are required to determine underlying etiological factors of malformations of cortical development patients.

A new cause of developmental and epileptic encephalopathy with continuous spike-and-wave during sleep: CDKL5 disorder.

The CDKL5 disorder is characterized by early onset epilepsy, stereotypical hand movement, absent speech and severe hypotonia. Herein, we report epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS) in apatient with CDKL5 disorder. She admitted with complaints of frequently recurring generalized tonic and myoclonic seizures. The diagnoses were confirmed by de novo CDKL5 mutation, c.197_198delCT (p.L67QfsX23). Interictal EEG revealed generalized spike and slow-wave activity, occurring intermittently in wakefulness but present for at least 85% of non-REM sleep, consistent with the diagnosis of CSWS. To our knowledge, this is the first report of CSWS associated with CDKL5 disorder.

Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review.

Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea. We report a case of a 12-month-old female patient presented with recurrent episodic apnea carrying a mutation in CHAT gene, p.I336T. Furthermore, we describe the genetic and clinical findings in 44 CMS patients due to CHAT mutations in the literature up to date. Episodes of apnea and respiratory insufficiency are the hallmarks of CHAT mutations. Clinical manifestations usually provoked by infections and fever. CMS due to CHAT mutations are rare, but it is important to diagnosis. Early diagnosis and appropriate treatment can improve morbidity and mortality.

Evaluation of Nonconvulsive Status Epilepticus and Nonconvulsive Seizures in a Pediatric Intensive Care Unit.

We aimed to identify nonconvulsive seizures (NCS) and nonconvulsive status epilepticus (NCSE) in a pediatric intensive care unit (PICU). A prospective cohort study on 35 patients who underwent continuous electroencephalographic monitoring in the PICU was done. The patients were evaluated to collect data of their demographics, clinical diagnoses, clinical seizures by electroencephalography, and neuroimaging findings. One case with NCSE and 4 cases with NCS were diagnosed among the 35 patients. The etiology of the patient with NCSE showed antiepileptic drug (AED) withdrawal. The etiology of the patients with NCS included electrical injury, head trauma, subarachnoid hemorrhage, and pneumonia. The findings suggest that younger age, epilepsy, acute structural brain abnormalities, abrupt cessation of AED, and clinically overt seizures before NCSE/NCS are associated with significant risk for NCS/NCSE. In addition, the electrical injury may also be considered as a risk factor for electrographic seizure though such a case has not yet been reported.

Resting Electroencephalography Differences Between Eyes-Closed and Eyes-Open Conditions in Children with Subclinical Hypothyroidism.

OBJECTIVE: Electroencephalography changes that occur during the transition from eyes-closed to the eyes-open state in resting condition are related to the early phase of sensory processing and are defined as activation. The present study aimed to reveal the potential deteriorations that may occur in the initial period of sensory processing in resting electroencephalography between children with subclinical hypothyroidism and a control group. MATERIALS AND METHODS: Electroencephalographies of 15 children with subclinical hypothyroidism and 15 healthy children aged 10 to 17 years were recorded for 2 minutes for EC and 2 minutes for eyes-open conditions in resting state. Absolute electroencephalography band powers (µV2 ) within the delta, theta, alpha, and beta frequency bands were calculated in Fz, Cz, Pz, and Oz electrodes, respectively, for eyes-closed and eyes-open conditions. RESULTS: The results show that, although there was no noteworthy difference between the powers of the electroencephalography frequency bands of children with subclinical hypothyroidism and healthy children during the eyes-open condition, the alpha powers of the control group were significantly higher in all electrodes during the eyes-closed condition. Furthermore, the powers of all frequency bands were observed to decrease in the eyes-open condition in the control group. However, the same net decrease was not observed in the frequency powers of children with subclinical hypothyroidism. CONCLUSION: According to the results of this study, children with subclinical hypothyroidism may experience information processing impairments starting in the early stages of sensory processing.

Coronavirus Disease 2019-Associated Neurological Manifestations in Children: A Large Single-Center Experience With Rare Cases.

BACKGROUND: We aimed to analyze pediatric patients with coronavirus disease 2019 (COVID-19) with a diverse spectrum of neurological manifestations in a single center since neurological involvement in children is still poorly understood. METHODS: We performed a retrospective study on 912 children aged between zero and 18 years who had a positive severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) test result and symptoms of COVID-19 from March 2020 to March 2021 in a single center. RESULTS: Among 912 patients, 37.5% (n = 342) had neurological symptoms and 62.5% (n = 570) had no neurological symptoms. The mean age of patients with neurological symptoms was significantly higher (14.2 ± 3.7 vs 9.9 ± 5.7; P < 0.001). Three hundred and twenty-two patients had nonspecific symptoms (ageusia, anosmia, parosmia, headache, vertigo, myalgia), whereas 20 patients had specific involvement (seizures/febrile infection-related epilepsy syndrome, cranial nerve palsy, Guillain-Barré syndrome and variants, acute disseminated encephalomyelitis, central nervous system vasculitis). The mean age of the patients with nonspecific neurological symptoms was significantly higher (14.6 ± 3.1 vs 7.7 ± 5.7; P < 0.001). CONCLUSION: This study presents a large number of patients with a diverse spectrum of neurological manifestations. The rare neurological manifestations reported in our study will contribute to better understanding the neurological involvement of SARS-CoV-2 in children. The study also points out the differences of SARS-CoV-2-related neurological manifestations between patients at different ages. Physicians should be alert about recognizing the early neurological manifestations of the SARS-CoV-2 in children.

HSV-1 Encephalitis Presenting with Diplopia: Effects of Infection or Autoimmunity?

This report describes a case in which diplopia was developed as a finding of postinfectious anti- N -methyl- d -aspartate receptor encephalitis. Infectious encephalitis, especially herpes simplex virus, is essential as it is one of the triggers of autoimmune encephalitis. Even if the cases present unexpected clinical findings, we should be vigilant in terms of autoimmune processes, such as diplopia seen in our case.

The Role of Breast Milk Neurotrophin Levels in Infantile Colic Pathogenesis: A Cross-Sectional Case-Control Study.

Objective: Immaturity of the digestive tract and enteric nervous system is a widely accepted theory for infantile colic (IC) etiopathogenesis. The study aimed to show whether neurotrophins that are necessary for normal functioning and development of the gastrointestinal system have a role in the pathogenesis of IC. Materials and Methods: The IC group (n = 75) comprising the mothers of infants with IC and the control group (n = 75) were included to this cross-sectional case-control study. Brain-derived neurotrophic factor (BDNF), glial cell-derived neurotrophic factor (GDNF), ciliary neurotrophic factor (CNTF), and nerve growth factor (NGF) levels of breast milk samples were evaluated by immunosorbent analysis method. Results: The mean age of infants with IC was 7.3 ± 2.8 weeks, while the mean age of the control group was 8.1 ± 2.9 weeks (p = 0.110). No significant difference was found between the breast milk BDNF, GDNF, CNTF, and NGF levels of two groups (p = 0.941, p = 0.510, p = 0.533, p = 0.839, respectively). Conclusions: This is the first report comparing the neurotrophin levels of the breast milk samples taken from the mothers of infants with and without IC. The study demonstrated that breast milk neurotrophin levels of the mothers did not differ significantly between the infants with and without IC.

Pediatric-Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter Study.

BACKGROUND: To evaluate the clinical features, demographic features, and treatment modalities of pediatric-onset chronic inflammatory demyelinating polyneuropathy (CIDP) in Turkey. METHODS: The clinical data of patients between January 2010 and December 2021 were reviewed retrospectively. The patients were evaluated according to the Joint Task Force of the European Federation of Neurological Societies and the Peripheral Nerve Society Guideline on the management of CIDP (2021). In addition, patients with typical CIDP were divided into two groups according to the first-line treatment modalities (group 1: IVIg only, group 2: IVIg + steroid). The patients were further divided into two separate groups based on their magnetic resonance imaging (MRI) characteristics. RESULTS: A total of 43 patients, 22 (51.2%) males and 21 (48.8%) females, were included in the study. There was a significant difference between pretreatment and post-treatment modified Rankin scale (mRS) scores (P < 0.05) of all patients. First-line treatments include intravenous immunoglobulin (IVIg) (n = 19, 44.2%), IVIg + steroids (n = 20, 46.5%), steroids (n = 1, 2.3%), IVIg + steroids + plasmapheresis (n = 1, 2.3%), and IVIg + plasmapheresis (n = 1, 2.3%). Alternative agent therapy consisted of azathioprine (n = 5), rituximab (n = 1), and azathioprine + mycophenolate mofetil + methotrexate (n = 1). There was no difference between the pretreatment and post-treatment mRS scores of groups 1 and 2 (P > 0.05); however, a significant decrease was found in the mRS scores of both groups with treatment (P < 0.05). The patients with abnormal MRI had significantly higher pretreatment mRS scores compared with the group with normal MRI (P < 0.05). CONCLUSIONS: This multicenter study demonstrated that first-line immunotherapy modalities (IVIg vs IVIg + steroids) had equal efficacy for the treatment of patients with CIDP. We also determined that MRI features might be associated with profound clinical features, but did not affect treatment response.

Nutritional status and adherence to the mediterranean diet in children with epilepsy.

INTRODUCTION: The objective of this study was to determine the nutritional status of children diagnosed with epilepsy and to evaluate adherence to the Mediterranean diet. METHODS: This cross-sectional study was carried out with a total of 85 children aged 2-18 years and their parents who attended the outpatient paediatric neurology clinic of a university hospital. Socio-demographic, dietary, biochemical, lifestyle, and anthropometric data were collected. Adherence to the Mediterranean diet was assessed using the Mediterranean Diet Quality Index (KIDMED). RESULTS: Of the total children, 22.3% were classified as high adherers to the Mediterranean diet (55.4% moderate and 22.3% poor). According to BMI for age, 15.3% of the children were overweight, and 15.3% were obese. The ratio of energy from fat intake was found to be high. The mean dietary iron and sodium intakes of children with a high level of adherence to the Mediterranean diet were higher than those with moderate and low levels (p < 0.05). The mean dietary cholesterol intake of those with low adherence to the Mediterranean diet (322.70 ± 166.63 mg) was found to be higher than those with high (237.43 ± 163.46 mg) and moderate (194.23 ± 182.71 mg) adherence (p < 0.05). A positive and statistically significant relationship was found between the children's KIDMED index score and carbohydrate, fibre, soluble fibre, iron, potassium, calcium and magnesium values (p < 0.05). There was no relationship between the children's KIDMED index scores and the number of seizures and anthropometric measurements (p > 0.05). CONCLUSION: Majority of children diagnosed with epilepsy had moderate adherence to the Mediterranean diet, and that the KIDMED index might be used in the evaluation of healthy eating habits in children diagnosed with epilepsy.

Electrical Status Epilepticus During Slow-wave Sleep (ESES): Current Perspectives.

Electrical status epilepticus during slow-wave sleep (ESES) is an epilepsy syndrome with sleep-induced epileptic discharges and acquired impairment of cognition or behavior. Since the disease's original description in 1971, no clear consensus has emerged on diagnostic criteria or optimal treatment. The treatment of ESES can be challenging, often including numerous antiepileptic drugs, immunomodulatory agents, and even surgical interventions. There is little evidence to guide treatment because only retrospective studies and case reports on the efficacy of treatment of ESES are present in literature. In this paper, we aim to analyze the etiopathogenesis of ESES in the new genetic era and to evaluate the treatment modalities in accordance with the genetic data and electroclinic spectrum of ESES.

The comparison of regional spinal curvatures and movements in sitting posture in ambulatory children with cerebral palsy having minimal-to-moderate functional limitations.

AIM: To examine the regional spinal curvatures and movements in the sagittal and frontal planes during sitting position, and the ability to act independently in patients with CP and to compare the differences between children and adolescents with minimal-to-moderate functional limitations. METHOD: Twenty-one participants diagnosed with CP aged 5-16 years were included. The participants' Gross Motor Function Classification System (GMFCS) levels were determined and those at levels I (minimal functional limitation group: minFLG) or II-III (moderate functional limitation group: modFLG) were included. Spinal curvatures, mobilities, and inclinations in the sagittal and frontal planes were evaluated in the sitting position using a hand-held, computer-assisted non-invasive electromechanical device. Participants' functional independence levels were assessed with the Functional Independence Measure (WeeFIM). RESULTS: In the sagittal plane, there were no differences in terms of spinal curvatures between the minFLG and modFLG (p > 0.05). Spinal mobility degrees for flexion (thoracic and lumbar regions and total spine), extension (sacral region), and total spine mobility scores were significantly greater in the minFLG (p < 0.05). In the frontal plane, lumbar spinal curvature significantly increased, and total spine mobility in the right/left lateral motions and functional independence decreased in the modFLG (p < 0.05). INTERPRETATION: The children/adolescents with minimal functional limitations had greater spinal mobility during flexion, extension, and lateral flexions. Spinal curvatures were similar between groups in the sagittal plane. The lumbar region posture scores in the frontal plane observed as lordoscoliosis were higher, and functional independence was lower in the modFLG.

Various Neurological Symptoms with Vitamin B12 Deficiency and Posttreatment Evaluation.

BACKGROUND: Vitamin B12 deficiency occurs primarily as a result of insufficient dietary intake in children in developing countries. Vitamin B12 deficiency produces a cluster of neurological symptoms in children. AIM: The aim of this study was to describe the vitamin B12 status of patients who were admitted with neurological symptoms and to evaluate the clinical response to vitamin B12 treatment. MATERIALS AND METHODS: This study was conducted on children who had vitamin B12 deficiency presented with neurological findings from January 2014 to October 2016. Patients with serum vitamin B12 levels lower than 300 pg/mL received intramuscular or oral vitamin B12 treatment. RESULTS: Three hundred and fifty-one patients presenting with neurologic symptoms and who had low serum vitamin B12 deficiency were analyzed. Our study population was composed mainly of adolescent age. The most common symptom with respect to age was headache. In infant patients, most common symptoms were seizure and developmental delay. CONCLUSION: Early diagnosis and vitamin B12 treatment are advocated to avoid long-term injury. Our study shows that patients with serum vitamin B12 levels lower than 300 pg/mL showed clinical improvement of neurological symptoms after receiving vitamin B12 treatment.

Topiramate-Responsive Tremor in a Novel Pathogenic Variant of SPG15 Patient.

Hereditary spastic paraplegia (HSP) is group of a rare neurodegenerative disorder with both genetically and clinically diverse neurologic features. Indeed, disease progression is varying greatly within the different forms and current treatment modalities are exclusively symptomatic for HSP. Tremor in HSP patients is only mentioned with rare case reports, so treatment option is lack in clinical ground. We reported a case of a HSP-15 girl with a previously reported novel mutation of SPG15 complained of a life disturbing tremor and topiramate as a drug therapy for tremor in our HSP patient.