Pediatric posterior reversible encephalopathy syndrome: Age related clinico-radiological profile and neurologic outcomes.

BACKGROUND: The aim of this study was to analyze the characteristics of pediatric posterior reversible encephalopathy syndrome (PRES) to determine clinical and radiologic differences between younger and older age groups, and to identify risk factors for development of any neurologic sequelae. METHODS: The study cohort consisted of confirmed pediatric PRES patients in a tertiary care university hospital from January, 2015, to December, 2020. Demographic and clinical properties, radiological manifestations, and neurologic outcomes were noted. Children aged ≤6 years were compared with those older than 6 years and factors affecting neurologic outcomes were evaluated. RESULTS: The most common underlying diseases were oncological (37%) and kidney diseases (29%). Epileptic seizures were the most frequent symptoms at initial clinical presentation. The regions in the brain that were most commonly involved were the occipital region (n = 65, 96%), the parietal region (n = 52, 77%), and the frontal lobe (n = 35, 54%). Magnetic resonance imaging (MRI) findings were consistent with atypical patterns in most of the study cohort (71%). Patients with unfavorable clinical outcomes (n = 13, 19.1%) had longer initial seizure times and longer encephalopathy times, lower leucocyte and absolute neutrophil counts, and lower neutrophil to lymphocyte ratios. No relationship was found between MRI findings, involvement patterns, and neurologic outcomes. CONCLUSIONS: No clinically specific differences between two different age groups were found. Atypical imaging manifestations of pediatric PRES in our study had an incidence that was as high as those found in earlier adult studies. Multivariate logistic regression analysis showed that the initial neutrophil to lymphocyte ratio, absolute neutrophil counts, and white cell counts could not predict poor neurologic outcomes.

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.

Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients.

Congenital Myasthenic Syndromes (CMS) are rare disorders that occur as a result of defects in the structure and in the function of neuromuscular junctions. Molecular genetic diagnosis is important to select the most suitable therapeutic option and treatment. Eight patients with congenital myasthenic syndromes who presented to the Çukurova University Pediatric Neurology Department Outpatient Clinic between June 2015 and May 2018 were reviewed. Mutations in the acetylcholine receptor (subunits in epsilon) (CHRNE) in three and mutations in the collagenic tail of endplate acetylcholinesterase (COLQ) gene in five patients were identified; p.W148 mutation was detected to be homozygous in four, c.1169A > G novel mutation in COLQ gene was homozygous in one, c452_454delAGG mutation was homozygous in the other patient, IVS7 + 2T > C(c.802 + 2T > C) mutation was homozygous in a patient and compound heterozygous mutations of c.865C > T(p.Leu289Phe) and c.872C > G(p.A2916)(p.Arg291Gly) in the CHRNE gene in the last patient. The parents of all the evaluated patients were consanguineous. Ptosis, ophthalmoplegia, generalized hypotonia, bulbar weakness, and respiratory crisis were the main findings at the time of presentation. Pyridostigmine is the first-line drug therapy in primary AChR deficiency. Beta adrenergic agonists, ephedrine, and albuterol are the other treatment options for CMS subtypes caused by mutations in COLQ. This study points out the genetic and phenotypic features of CMS patients in the Turkish population and it also reports previously unreported mutations in the literature. CHRNE and COLQ gene mutations are common in the Turkish population. Patients can get serious benefits and recover after the treatment. The treatment should be planned according to genetic tests and clinical findings.

Pulmonary embolism complicated the course of anti-N-methyl-D aspartate receptor encephalitis in a pediatric intensive care unit setting: a case report.

INTRODUCTION: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, an autoimmune neurological disorder resultant from the autoantibodies directed to the NR1 subunit of the NMDAR, is mainly characterized by neuropsychiatric symptoms, including behavior changes, paranoia, delusions, epileptic seizures, movement disorders, aphasia, insomnia, dysautonomia, and altered consciousness. Pulmonary embolism (PE) presents with pleuritic chest pain, hemoptysis, and respiratory distress by obstruction of the pulmonary circulation. Unlike adults, pediatric PE usually related to obvious risk factors, including central venous line, malignancy, lupus erythematosus, renal disease, congenital thrombophilia, surgery, and major trauma. Besides, PE has rarely been encountered in adult patients with anti-NMDAR encephalitis even in the absence of these risk factors. CASE PRESENTATION: A 16-year-old male patient, with acute psychosis, epileptic seizure, and altered consciousness, was diagnosed as having anti-NMDAR encephalitis and treated by intravenous immunoglobulin and high-dose pulse intravenous methylprednisolone. During follow-up, on the 11th day of hospitalization, the disease course was complicated by the occurrence of pulmonary embolism, presenting with acute onset respiratory distress and the need for supplementary oxygen treatment. PE improved with low-molecular-weight heparin treatment. CONCLUSION: Pulmonary embolism should be kept in mind as a possible cause of respiratory insufficiency in pediatric anti-NMDAR encephalitis patients along with altered consciousness, breathing instability, hypersalivation, status epilepticus or dystonia, and their treatment.

Factors affecting epilepsy prognosis in patients with tuberous sclerosis.

PURPOSE: We aimed to determine the characteristics of epileptic seizures that significantly affect the cognitive functions of 83 patients followed with tuberous sclerosis complex (TSC), their resistance to treatment and risk factors causing this resistance. MATERIALS-METHODS: In order to determine the prognosis, the seizure-free/seizure-controlled group and the group with refractory seizures were compared. In addition, risk factors affecting cognitive functions in the patients were determined. RESULTS: There was a statistical significance between the presence of a history of seizures in the neonatal period, the age of onset of seizures being less than 2 years of age, autism, status epilepticus, Lennox-Gastaut syndrome (LGS), presence of infantile spasm, generalization of the electroencephalography (EEG) findings, the number of tubers in cerebral imaging being more than three and refractory seizures (p < 0.05). Statistically significant relationship was found between presence of a history of seizures in the neonatal period, the age of onset of seizures, autism, LGS, presence of infantile spasm, presence of status epilepticus history, history of using more than three antiepileptic drugs, generalization of EEG findings, presence of SEGA in cerebral imaging, number of tubers being more than three and the patient's mental retardation (p < 0.05). CONCLUSION: In logistic regression analysis, the age of the seizure onset being less than 2 years of age, the presence of autism and number of tubers being more than three in cerebral magnetic resonance imaging (MRI) are determined to be the risk factors that most likely to increase the seizures to be more resistant.

Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.

Ethylmalonic encephalopathy is a very rare autosomal recessively inherited inborn error of metabolism; characterized by encephalopathy, recurrent petechiae without bleeding diathesis, chronic diarrhea, and orthostatic acrocyanosis. Here, we describe a case of ethylmalonic encephalopathy with late onset neurologic symptoms and a confusing family history of two deceased brothers with the wrong suspicion of short chain acyl-CoA dehydrogenase deficiency.

Risk factors affecting prognosis in infantile spasm.

AIM: To assess risk factors that affect epilepsy prognosis and neurodevelopmental outcome and response to treatment in patients diagnosed with infantile spasm. METHODS: In this study, demographics, treatment modalities, etiologies, risk factors affecting neurodevelopmental outcome and epilepsy prognosis were assessed retrospectively at the end of a minimum 24-months follow-up of 104 patients diagnosed with infantile spasm from May 2012 to October 2015. RESULTS: Neonatal seizure during neonatal period, abnormal head circumference, young age at the time of presentation and early gestational age, symptomatic etiology, abnormal initial examination and abnormal development test at the time of diagnosis, consanguinity, the medical center where treatment was started in the second center or beyond and magnetic resonance imaging finding were found to be statistically significant for poor prognosis in terms of neurodevelopment (p < 0.05). Abnormal initial examination and abnormal development test both at the time of diagnosis and at the end of follow-up, consanguineous parents, young age at the time of presentation, symptomatic etiology, a family history of mental retardation and epilepsy were found to be statistically significant for poor prognosis in terms of epilepsy. Administration of adrenocorticotropic hormone (ACTH) for seizure control was statistically significant compared to other antiepileptic drugs (p < 0.05). CONCLUSION: Infantile spasm is an age-related epileptic encephalopathy, and it was observed that it is still catastrophic, and that the most important factor affecting prognosis of epilepsy is etiology, age at the time of presentation and the medical center where treatment was started in the second center or beyond.

Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature.

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive enzyme defect in the vitamin B6 metabolism characterized by intractable seizures which are usually resistant to all antiepileptic drugs but respond to pharmacological doses of pyridoxine. We present the clinical and molecular genetic findings of two patients with c.1597_1597delG mutations in ALDH7A1 gene. There are different clinical phenotypes in PDE: patients with complete seizure control with pyridoxine and normal development (group 1), patients with complete seizure control with pyridoxine and development delay (group 2), and patients with persistent seizures despite pyridoxine treatment and with development delay (group 3). Our two patients have persistant seizure despite pyridoxine treatment and with development delay. Pyridoxine-dependent epilepsy can be identified in any neonate with signs of encephalopathy and refractory seizures, with no evidence of hypoxic-ischemic damage or other underlying metabolic disturbance. Neurodevelopmental outcomes of patients with PDE is multifactorial; early diagnosis and treatment of these patients is vital.

Early rehabilitation of a child with intensive care unit acquired weakness secondary to membranoproliferative glomerulonephritis: A case report.

Intensive care unit acquired weakness presents with flaccid paralysis of the extremities and difficulty of weaning from the ventilator and it has occasionally been reported in children. We report the early rehabilitation of a 12-year-old girl with membranoproliferative glomerulonephritis who developed intensive care unit acquired weakness. She underwent an intensive rehabilitation procedure which included assistive range of motion, bed mobility, airway clearance and breathing techniques, neuromuscular electrical stimulation (NMES) to the quadriceps muscles and resistive therapeutic band exercises. Following the rehabilitation program, muscle strength (Medical Research Council sum score), ambulation (Functional Ambulation Category) and activity (Wee FIM) scores increased significantly.

Hashimoto's encephalopathy: four cases and review of literature.

Hashimoto's encephalopathy is a rare clinically heterogenous condition consisting of encephalopathy, seizures and variable neurological and psychiatric manifestations, accompanied by high titres of serum antithyroid antibodies. We described the clinical and laboratory findings of four children (aged 8-17 years) with Hashimoto's encephalopathy. The clinical features of three patients at presentation included refractory epilepsy, and confusion, and one patient presented with behavioral and cognitive changes. During their presentation, two of them were in euthyroid, and the others were in hypothyroid status. All patients manifested increased antithyroid antibodies. Two patients improved with steroid treatment. The others responded to plasmapheresis instead of corticosteroid treatment. Physicians' awareness of this complication is of great importance because most patients respond dramatically to the treatment.

Psoriasiform drug eruption associated with sodium valproate.

As psoriasis is a common skin disorder, knowledge of the factors that may induce, trigger, or exacerbate the disease is of primary importance in clinical practice. Drug intake is a major concern in this respect, as new drugs are constantly being added to the list of factors that may influence the course of the disease. We report a patient with a psoriasiform drug eruption associated with the use of sodium valproate. Physicians should be aware of this type of reaction. Early detection of these cases has practical importance since the identification and elimination of the causative drug are essential for therapy success.