Two siblings with Fanconi anemia (FANCQ, ERCC4/XPF) presenting with tumor-mimicking lesions in the brain and acute neurological deterioration.

The complementation Q group (FANCQ) subtype of Fanconi anemia (FA) caused by the ERCC4/XPF mutation is very rare. Two siblings, aged 13 and 10 with Fanconi phenotypic features, presented with right hemiparesis and focal-onset seizures. In both cases, cranial magnetic resonance imaging (MRI) showed mass-like lesions accompanied by peripheral edema and calcification. In one case, oral steroid treatment and surgical excision were performed, while in the other case, the cranial lesion regressed just with steroid treatment and without surgery. Both siblings remained wheelchair-bound due to neurological dysfunction. One case died due to hepatocellular carcinoma. ERCC4/XPF gene mutation was detected in both siblings.

Differentiation of peripheral and non-peripheral etiologies in children with vertigo/dizziness: The video-head impulse test and suppression head impulse paradigm.

OBJECTIVES: To identify the etiology of vertigo/dizziness and determine the effectiveness of the video-head impulse test (vHIT) and the suppression head impulse paradigm (SHIMP) tests in distinguishing between peripheral and non-peripheral etiologies in children who presented to the otolaryngology department with complaints of vertigo/dizziness. METHODS: The vHIT and SHIMP tests were applied to the children. The vestibulo-ocular reflex (VOR) gain and saccade parameters were compared. RESULTS: In 27 children presenting with vertigo/dizziness, the most common etiological factor was inner ear malformation (IEM) (n = 6/27, 22.2%), followed by cochlear implant surgery (11.1%) and migraine (11.1%). Vestibular hypofunction was indicated by the vHIT results at a rate of 60% (9/15 children) and SHIMP results at 73.3% (11/15 children) among the children with a peripheral etiology, while these rates were 8.3% (1/12 children) and 25% (3/12 children), respectively, in the non-peripheral etiology group. SHIMP-VOR and vHIT-VOR gain values had a moderate positive correlation (p = 0.01, r = 0.349). While there were overt/covert saccades in the vHIT, anti-compensatory saccade (ACSs) were not observed in the SHIMP test (p = 0.041). The rates of abnormal vHIT-VOR gain (p = 0.001), over/covert saccades (p = 0.019), abnormal vHIT response (p = 0.014), ACSs (p = 0.001), and abnormal SHIMP response (p = 0.035) were significantly higher in the peripheral etiology group. CONCLUSIONS: IEM was the most common etiological cause, and the rate of vestibular hypofunction was higher in these children with peripheral vertigo. vHIT and SHIMP are effective and useful vestibular tests for distinguishing peripheral etiology from non-peripheral etiology in the pediatric population with vertigo/dizziness. These tests can be used together or alone, but the first choice should be the SHIMP test, considering its short application time (approximately 4-5 min) and simplicity.

Optic neuritis in Turkish children and adolescents: A multicenter retrospective study.

BACKGROUND: Various etiologies may underlie optic neuritis, including autoantibody-mediated disorders described in the last decade. We re-examined demographic, clinical, laboratory features and prognostic factors in pediatric patients with autoimmune optic neuritis according to current knowledge. METHODS: Cases of pediatric ON from 27 centers in Türkiye diagnosed between 2009 and 2022 were included for retrospective evaluation. RESULTS: The study included 279 patients, 174 females and 105 males, with a female-to-male ratio of 1.65. The average age at onset was 12.8 ± 3.4 years, and mean follow-up, 2.1 years (range: 1-12.1 years). Patients <10 years old were grouped as "prepubertal" and those ≥10 years old as "others". The diagnoses made at the end of follow-up were multiple sclerosis associated optic neuritis (n = 90, 32.3 %), single isolated optic neuritis (n = 86, 31 %), clinically isolated syndrome (n = 41, 14.7 %), myelin oligodendrocyte glycoprotein antibody associated optic neuritis (n = 22, 7.9 %), and relapsing isolated optic neuritis (n = 18, 6.5 %). Predominant diagnoses were myelin oligodendrocyte glycoprotein antibody associated optic neuritis and acute disseminated encephalomyelitis associated optic neuritis in the prepubertal group and multiple sclerosis associated optic neuritis in the older group. Recurrences were observed in 67 (24 %) patients, including 28 with multiple sclerosis associated optic neuritis, 18 with relapsing isolated optic neuritis, 11 with myelin oligodendrocyte glycoprotein antibody associated optic neuritis, 8 with aquaporin-4 antibody related optic neuritis, and 2 with chronic relapsing inflammatory optic neuropathy. Recurrences were more common among female patients. Findings supporting the diagnosis of multiple sclerosis included age of onset ≥ 10 years (OR=1.24, p = 0.027), the presence of cranial MRI lesions (OR=26.92, p<0.001), and oligoclonal bands (OR=9.7, p = 0.001). Treatment in the acute phase consisted of intravenous pulse methylprednisolone (n = 46, 16.5 %), pulse methylprednisolone with an oral taper (n = 212, 76 %), and combinations of pulse methylprednisolone, plasmapheresis, or intravenous immunoglobulin (n = 21, 7.5 %). Outcome at 12 months was satisfactory, with 247 out of 279 patients (88.5 %) demonstrating complete recovery. Thirty-two patients exhibited incomplete recovery and further combination treatments were applied. Specifically, patients with relapsing isolated optic neuritis and aquaporin-4 antibody related optic neuritis displayed a less favorable prognosis. CONCLUSION: Our results suggest optic neuritis is frequently bilateral in prepubertal and unilateral in peri­ or postpubertal patients. Age of onset 10 or older, presence of oligoclonal bands, and brain MRI findings reliably predict the development of multiple sclerosis. The risk of developing multiple sclerosis increases mostly during the second and third years of follow-up. Relapsing isolated optic neuritis remains a separate group where the pathogenesis and outcome remain unclear. Investigation of predisposing and diagnostic biomarkers and long follow-up could help to define this group.

Evaluation of MicroRNAs in Pediatric Epilepsy.

OBJECTIVE: The pathophysiology of epilepsy remains unknown. Recent research has shown that microRNA expression changes in epileptic adults. In the present work, we aimed to identify serum microRNA expression in drug-responsive and resistant children with idiopathic general- ized epilepsy. MATERIALS AND METHODS: The study included 43 (20 male and 23 female) epilepsy patients and 66 (43 male and 23 female) control subjects. The mean ages of the groups were 113.41 ± 61.83 and 105.46 ± 62.31 months, respectively. Twenty-eight epileptic patients were classi- fied as drug resistant. Thirteen of the controls were the siblings of patients with epilepsy. The study only included children with idiopathic generalized epilepsy who had normal brain mag- netic resonance imaging. The serum microRNA expressions (microRNA-181a, microRNA-155, microRNA-146, and microRNA-223) were investigated. Expressions of serum microRNA-181a, microRNA-155, microRNA-146, and microRNA-223 were previously investigated in epilepsy patients and children with febrile seizures. Therefore, these microRNAs were chosen. The expressions of serum levels of microRNAs were determined using quantitative real-time poly- merase chain reaction. RESULTS: The results indicated that the expressions of serum microRNA-155 and microRNA-223 were elevated in epileptic children (P < .05). The expression of the same microRNAs was also elevated in individuals with drug-resistant epilepsy compared to healthy controls (P < .05). microRNA-146a, microRNA-155, and microRNA-223 expressions were higher in drug-resistant patients than in drug-responsive children (P < .05). A logistic regression study determined that an increase of microRNA-155 was a risk for epilepsy, while a decrease of microRNA-146a risk for epilepsy. CONCLUSION: Few researchers have investigated the function of microRNAs in the develop- ment of childhood epilepsy. Our findings revealed that epilepsy patients have abnormal microRNAexpression.

Neurological Face of Familial Mediterranean Fever.

OBJECTIVE: Familial Mediterranean fever is a systemic inflammatory disease characterized by recurrent attacks in the form of fever and inflammation of serous membranes. We aimed to search for neurological signs and symptoms of children with familial Mediterranean fever. MATERIALS AND METHODS: Medical records database from 2010 to 2020 was screened retrospectively. In total, 625 children with familial Mediterranean fever were included in the study. Neurological symptoms and associated factors were searched. RESULTS: The mean age at onset of familial Mediterranean fever symptoms and time to diagnosis was calculated as 5.12 ± 3.51 years and 7.27 ± 3.9 years, respectively. The neurological symptoms were present in 142 (23.5%) patients. Headache was the most common symptom. During follow-up, different neurologic diseases were diagnosed in 40 familial Mediterranean fever patients and epilepsy was the most frequent disease. The coexistent disease was present in 49.9% of children with familial Mediterranean fever. Juvenile idiopathic arthritis was found to be a risk factor for the neurologic symptom (P < .05). The frequency of neurological symptoms was higher in patients with E148Q mutation (P < .012). CONCLUSION: The results of the present study revealed that patients with familial Mediterranean fever can present with various central nervous system manifestations. A multidisciplinary approach must be considered in the treatment of these children.

Evaluation of ketogenic diet therapy in children diagnosed with drug-resistant epilepsy: a single-center experience.

BACKGROUND: We evaluate here the effect of the ketogenic diet (KD) on children with drug-resistant epilepsy (DRE) in terms of clinical effectiveness, anthropometric measurements, and some electroencephalogram (EEG) and biochemical findings. METHODS: Included in the study were 18 children (median age 70 months, 61.1% female) who received the classical KD and modified Atkins diet (MAD) for at least one year due to DRE. The patients` demographic and laboratory data; weight, height and body mass index values; EEG and electrocardiographic findings; abdominal ultrasonography findings; and biochemical parameters were recorded at baseline and at 12 months after the initiation of the diet. A reduction of ≥50% in the number of seizures was accepted as a response to KD. RESULTS: Classic KD was chosen for 14 patients (77.8%), and MAD for four patients (22.2%). The response to KD therapy (≥50% reduction) was 55.5% (n = 10) (p = 0.008), and one patient even became seizure-free. By the 12th month of treatment, 10 patients had experienced a reduction of more than 50% in epileptiform discharges, as indicated by EEG findings. There was no difference in seizure reduction between the patients who received classical KD and MAD. A total of 11.1% of the children lost weight during KD treatment. The most common side effect was constipation (n = 10, 55.6%). At the end of one year of treatment, total cholesterol and low density lipoprotein cholesterol (LDL-C) LDL-C levels had increased dramatically, while fasting blood glucose levels had decreased significantly. CONCLUSIONS: Our study suggests that KD treatment provides good clinical efficacy in the treatment of pediatric DRE, and can significantly reduce the frequency of epileptic discharges. Also, total cholesterol and LDL-C levels increased significantly, and fasting blood glucose levels decreased significantly compared to the baseline levels.

A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosis.

BACKGROUND: Heterozygous intragenic mutations of the hepatocyte nuclear factor 1 homeobox b gene (HNF1B) located on chromosome 17 and microdeletion of 17q12 region (17q12MD) leads to the complete loss of this gene, which causes renal cystic disease, diabetes mellitus (MODY5), hypomagnesemia, hyperuricemia, liver enzyme abnormalities, genital tract abnormalities and exocrine pancreatic insufficiency. In addition, patients with 17q12MD also have facial dysmorphism, neuro-developmental and neuropsychiatric disorders. CASE: A 16-year-old girl with obesity and mild facial dysmorphism was admitted to the hospital with symptoms of diabetes that started two days prior to her admission. She was diagnosed with severe diabetic ketoacidosis and treated accordingly. She had been followed up with the diagnoses of multicystic renal disease, hydronephrosis, hepatosteatosis, hypomagnesemia and hyperuricemia since the age of six. She had mild intellectual disability. Her menarche started two months ago. Cranial magnetic resonance imaging revealed mild diffuse cerebral and cerebellar atrophy and a partial empty sella. Her mother had diabetes, hypomagnesemia and mild intellectual disability and her maternal grandfather and uncle had diabetes. Her grandfather also had renal cystic disease. All of them are on oral antidiabetic medication. The genetic analysis of the patient and her mother revealed a loss of 1.6 megabases in chromosome 17q12. CONCLUSIONS: MODY5 should be kept in mind in patients with diabetes who present with extra pancreatic findings, especially with renal cystic disease, more over, a genetic analysis including the study of 17q12MD should be carried out in patients who present with additional neuropsychiatric findings. Ketoacidosis can be seen in patients with MODY5. Ketoacidosis and renal anomalies and dysfunction are factors that increase and affect the severity of each other in these patients.

Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features.

Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder characterized by dysmorphic features, neurodevelopmental delay, growth retardation, and hypertrichosis cubiti. It is caused by pathogenic variants in the KMT2A gene. Here, we report a child with WSS presented with neurodevelopmental delay. Genetic analysis revealed a heterozygous c.2312dupC (p.Ser774Valfs*11) variant at the KMT2A gene that was classified as pathogenic in dbSNP (rs1057518649). To the best of our knowledge, this is the first patient of WSS from Turkey. This case draws attention to the diagnosis of WSS in children with neurodevelopmental delay.

Niemann-Pick type C disease with a novel intronic mutation: three Turkish cases from the same family.

OBJECTIVES: Niemann-Pick type C (NPC) disease is a rare progressive neurodegenerative condition that is characterized by the accumulation of cholesterol, glycosphingolipids, and sphingosine in lysosomes. Patients have various systemic and neurological findings depending on their age at onset. This disease is caused by the autosomal recessive transmission of mutations in the NPC1 and NPC2 genes; patients have mutations mainly in the NPC1 gene (95%) and the majority of them are point mutations located in the exonic regions. CASE PRESENTATION: Here, we presented three cousins with hepatosplenomegaly and progressive neurodegeneration who were diagnosed with visceral-neurodegenerative NPC disease. Their parents were relatives, and they had a history of sibling death with similar complaints. Bone marrow smear showed foamy cells in patient 1. Vertical supranuclear gaze palsy was not present in all cases. Sphingomyelinase (SM) activities were almost normal to exclude NPA or NPB. Filipin staining was performed in patient 2 and showed a massive accumulation of unesterified cholesterol The NPC1 gene analysis of the three patients showed a novel homozygous c.1553+5G>A intronic mutation. cDNA analysis was performed from the patient 3 and both parents. It was observed that exon 9 was completely skipped in the homozygous mutant baby. Both the normal and the exon 9-skipped transcripts have been detected in the parents. CONCLUSIONS: When combined with the filipin staining and the patients' clinical outcomes, this mutation is likely to be deleterious. Moreover, cDNA sequencing supports the pathogenicity of this novel variant.

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.

NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly.

NudE Neurodevelopment Protein 1 (NDE1) gene encodes a protein required for microtubule organization, mitosis, and neuronal migration. Biallelic pathogenic variants of NDE1 gene are associated with structural central nervous system abnormalities, specifically microlissencephaly and microhydranencephaly. The root of these different phenotypes remains unclear. Here, we report a 20-year-old male patient referred to our clinics due to severe microcephaly, developmental delay, spastic quadriplegia, and dysmorphic features. The cranial computed tomography revealed abnormal brain structure and excess of cerebrospinal fluid, consistent with microhydranencephaly. A homozygous c.684_685del, p.(Pro229TrpfsTer85) change in NDE1 gene was found by clinical exome analysis. The variant has previously been reported in individuals with microlissencephaly, therefore we propose that the same variant within the gene may cause either microlissencephaly or microhydranencephaly phenotypes. There are only a few papers about NDE1-related disorders in the literature and the patient we described is important to clarify the phenotypic spectrum of the disease.

Evaluation of micronutrient levels in children with cerebral palsy.

BACKGROUND: Many studies evaluating the nutritional status of children with cerebral palsy (CP) have focused on energy requirements and protein intake. The present work aimed to assess nutritional status and micronutrient levels of children with (CP). METHODS: This multicenter, cross-sectional and observational study was conducted in 10 different cities in Turkey. Data were available for 398 participants. Anthropometric measurements, feeding mode, nutritional status, and micronutrient levels were evaluated. RESULTS: The study was conducted with 398 participants (303 patients and 95 healthy controls). Statistical analysis showed that according to the Gomez Classification, weight-for-age (WFA) revealed malnutrition in 92.6% of children with CP, based on Centers for Disease Control and Prevention percentiles. Measurements of micronutrient levels showed that zinc levels were low in patients, whereas vitamin A levels were low in controls. Phosphorous and manganese levels were significantly lower in malnourished children than in typical children. The results revealed that children consuming enteral nutrition solutions had higher selenium and lower zinc levels than non-consumers. CONCLUSIONS: Malnutrition is not only a protein- or calorie-based problem; micronutrient deficiencies might cause severe health problems. Children with chronic neurological disabilities must be carefully evaluated for these issues. Therefore, nutritional interventions should be adapted to nutrition.

Expression of MicroRNA 146a, 155, 181 and 223 in febrile seizure.

BACKGROUND: We studied microRNAs (miRNAs) -146a, -155, -181 and -223 expressions and proinflammatory cytokine levels in children with Febrile seizure (FS) and compared to febrile controls. METHODS: This prospective multicenter study examined representative populations in eight different cities in Turkey between June 30, 2018 and July 1, 2019. Blood samples were taken from all children at presentation. The real time (RT) polymerase chain reaction (PCR) were used to measure the expressions of microRNAs and tumor necrosis factor alpha (TNF-α), interleukin 1 beta (IL-1ß), and interleukin 6 (IL-6) levels were studied by enzyme-linked immuno-sorbent assay. RESULTS: The study was conducted with 60 children; 30 children with FS and 30 children in the febrile control group. The seizure was classified as simple FS in 73.3 % and half of the children were experiencing their first FS episode. Although the expression levels of miRNAs-146a, -181a and -155 were higher in febrile seizure patients, only miRNAs 146a level was significantly higher in FS patients. Serum TNF-α, IL-1ß, IL-6 levels were higher in the FS group than the controls. The results of statistical analysis showed that there were correlations within miRNA expressions in children with FS. No differences were found considering miRNA expression between FS type, number of FS experienced. CONCLUSIONS: miRNAs-146a, -181a, -155 and -223 may be involved in FS pathogenesis. Altered miRNA expression levels might be an adaptive response to inflammation. New therapeutic approaches might be developed based on miRNA expressions in children with FS.

Rituximab Treatment in Acute Disseminated Encephalomyelitis Associated with Salmonella Infection.

Acute disseminated encephalomyelitis (ADEM) is an inflammatory, demyelinating, and rapidly progressive disorder of the central nervous system. This condition is also known as postinfectious encephalomyelitis, and it is characterized by multifocal lesions in the brain and spinal cord with widespread neurological findings. High doses of intravenous (IV) methylprednisolone, intravenous immunoglobulin (IVIG), and plasma exchange (PLEX) treatments comprise the first-line therapy. There are limited pediatric case reports refractory to standard treatment. Here, we present the case of a 17-year-old girl diagnosed with ADEM associated with Salmonella infection, which was treated with rituximab.

Cerebral sinovenous thrombosis in children: clinical presentation, locations, and acquired and inherited prothrombotic risk factors.

BACKGROUND: Cerebral sinovenous thrombosis (CSVT) in children is a rare and life-threatening cerebrovascular disease. Hence, we evaluated its clinical presentations, inherited and acquired prothrombotic risk factors along with the accompanying diseases, the thrombosis locations as well as the outcomes of anticoagulant therapy in children with CSVT. METHODS: The medical records of pediatric CSVT patients treated between January 2011 and September 2018 were analyzed retrospectively. RESULTS: The study included 29 children, 15 boys (51.7%) and 14 girls (48.3%), with the median age being 11 years (range:3 days-17 years). The most commonly presented complaint in neonates was seizures and in the non-neonatal age groups was a headache. Also, at least one acquired and/or inherited thrombophilic risk factor was identified in 89.7% of the patients. The most commonly acquired prothrombotic risk factors along with the accompanying diseases included infections, central venous catheter, and dehydration, while the most commonly inherited thrombophilic risk factors included heterozygous factor-V Leiden mutation and elevated lipoprotein (a). The most common thrombosis location was found to be the transverse sinus. Also, none of the patients died due to the thrombotic episode. Complications included epilepsy in five patients, hydrocephalus in one patient, and intracranial hypertension in another patient. CONCLUSIONS: Clinicians need to be well aware of the inherited and acquired prothrombotic risk factors in CSVT. It should also be kept in mind that at-risk patients may also present with nonspecific signs and symptoms with no apparent neurological manifestation. The risk of acute complications and long-term sequelae can be substantially reduced if diagnosed early and initiated with appropriate treatment at the early stages.

Metoclopramide-Induced Acute Dystonia: Data From a Pediatric Emergency Unit.

OBJECTIVES: Metoclopramide is a commonly used medication in pediatric practice, and dystonia is a common adverse effect of it. The present study aims to evaluate the clinical characteristics of metoclopramide-induced acute dystonic reactions (MIADRs) in pediatric patients admitted to the pediatric emergency unit. METHODS: Twenty-eight patients were admitted with MIADRs between June 2004 and April 2016; they were enrolled into the study retrospectively. RESULTS: The study group was composed of 13 females and 15 males with the mean ± SD age of the females higher than that of the males, 12.3 ± 4.5 and 7.8 ± 4.3 years, respectively. Only 9 (32.1%) of the patients were diagnosed as MIADRs at the time of admission. Seventeen patients (60.7%) received over the recommended daily dose of metoclopramide. Dystonia was focal in most of the patients, with the most affected parts consisting of the neck, eyes, and orolingual regions. In 9 of the patients, the dystonia was episodic in nature. Pharmacological treatment was used for 18 patients. No patients died, and none suffered long-term injury related to MIADRs. CONCLUSIONS: Metoclopramide administration may be associated with the occurrence of acute dystonic reaction. Metoclopramide-induced acute dystonic reactions may be misdiagnosed, so detailed medical history gathering and a high index of suspicion are warranted. Our data suggest that MIADRs may be dose related and that there may be age- and sex-related differences in the epidemiology of MIADRs.

The evaluation of vitamin K status in children with febrile seizure.

BACKGROUND: Febrile seizure is the most common neurological disorder in childhood. The exact pathophysiology of febrile seizures is unknown. Recent studies showed the role of vitamin K in nonhematological and inflammatory disorders. This study aimed to investigate the serum vitamin K levels in children with febrile seizures. AIMS: To evaluate vitamin K levels in children with febrile seizures. STUDY DESIGN: Prospective case-control study. METHODS: This multicenter study examined representative populations in 8 different cities in Turkey between April 1, 2018 and April 1, 2019. Blood samples were taken from all children at presentation. Vitamin K1, vitamin K2, tumor necrosis factor-alpha, interleukin 1 beta, and interleukin 6 levels were determined by enzyme-linked immunosorbent assay. RESULTS: A total of 155 children were included in the study-84 children with febrile seizures and 71 children in febrile control group. Serum vitamin K1 and vitamin K2 levels were also higher in children with febrile seizures than in the controls. The results of statistical analysis showed that vitamin K1 and vitamin K2 levels were correlated with tumor necrosis factor-alpha, interleukin 1 beta, and interleukin 6 levels. The median vitamin K1 and vitamin K2 levels of children experiencing their first febrile seizure were higher than those in children with recurrent febrile seizures. Type of febrile seizure has no effect on serum vitamin K1 and vitamin K2 levels. CONCLUSION: In children with febrile seizures, vitamin K levels are higher than those in the control group. These new findings may contribute to elucidating the etiopathogenesis of febrile seizures.

Brain Abscess in a Patient with Osteopetrosis: A Rare Complication

Brain abscess formation is extremely rare in patients with osteopetrosis. Herein, we report a case of viridans streptococci brain abscess in an immunocompromised child diagnosed with osteopetrosis. The patient presented with a sudden change in mental status and convulsions. Radiological evaluation revealed a temporal lobe brain abscess, and intravenous antibiotherapy was started immediately. The patient underwent abscess drainage, and laboratory investigation of pus material revealed viridans streptococci.

Acute flaccid myelitis outbreak through 2016-2018: A multicenter experience from Turkey.

AIM: We aim to describe the demographic characteristics, etiology, neurophysiology, imaging findings, treatment, prognosis, and prognostic factors of acute flaccid myelitis. METHODS: The clinical data, laboratory test and, magnetic resonance imaging (MRI) results of pediatric patients diagnosed with acute flaccid myelitis according to the Centers for Disease Control criteria between August 1, 2016, and December 31, 2018, from 13 centers in Turkey were reviewed. RESULTS: Of the 34 cases identified, 31 were confirmed (91.2%). Eighteen patients (55.9%) were boys. The median patient age was 4 years (interquartile range 2.5-6.9 years). Most of the patients were admitted in 2018 (n = 27). A preceding history of a febrile illness was reported in all patients, with a median of 4 days (interquartile range 3-7 days) before symptom onset. Thirty-one patients had T2 hyperintensity on spinal MRI, and 18 patients had cerebrospinal fluid pleocytosis. The most common infectious agents were entero/rhinoviruses (n = 5) in respiratory specimens. All patients except one received immunotherapy either alone or in combination. Among 27 patients with follow-up data 24 had persistent weakness. Involvement of four limbs together with an abnormal brain MRI at onset were associated with a poor prognosis. CONCLUSION: The number of patients with acute flaccid myelitis increased since 2012, spiking with every 2-year interval, largely in the pediatric population. The median age decreases with every outbreak. Clinicians should be aware of the clinical picture for early collection of specimens and early start of rehabilitation programs. Further studies are needed to better characterize the etiology, pathogenesis, risk factors, and treatment of this rare condition.

Screening for functional gastrointestinal disorders in children with epilepsy.

BACKGROUND AND AIM: We aimed to examine the frequency of functional gastrointestinal disorders (FGIDs) among pediatric patients with epilepsy and the association of FGIDs with epilepsy characteristics. MATERIAL AND METHODS: Patients with epilepsy aged between 4 and 18 years old were enrolled. Age- and sex-matched healthy children were taken as the control group. Children with cerebral palsy, history of abdominal surgery, gastrointestinal disorders, medication affecting gastrointestinal system motility, recent gastrointestinal infection, and those on the ketogenic diet were excluded from the study. Rome IV symptom-based criteria were used to screen FGIDs. Frequencies of FGIDs were compared between patients with epilepsy and controls. Additionally, epilepsy type, seizure frequency, and antiepileptic drug (AED) requirements were also compared between patients with and without FGIDs. RESULTS: During the study period, 78 children [41 girls, age between 4 and 17 years, mean ±â€¯standard deviation (SD): 11.5 ±â€¯4.3 years] with epilepsy were included in the study. The mean age at epilepsy onset was 7.8 ±â€¯3.7 years, and mean disease duration was 5.1 ±â€¯3.9 years. The most common epilepsy type was focal (74.3%), followed by generalized (25.7%). There was at least one of the FGIDs in 26 children in the patient group and 15 children in the control group (33.3% vs. 19.2%, p < 0.001). The most common FGID in the patient group was irritable bowel syndrome (IBS), which was significantly higher than the control group. While aerophagia and rumination syndrome were not seen in either group, cyclic vomiting syndrome was seen only in the patient group. When the patients with and without FGIDs were compared, there was no difference between the groups in terms of epilepsy type, frequency of seizure, type, and the number of drugs used. CONCLUSIONS: We found that children with epilepsy have a higher prevalence of FGIDs when compared with age- and sex-matched healthy controls. Our results suggest that children with epilepsy, especially complaining of gastrointestinal symptoms, should be screened for FGIDs.