Comparison of 2017 ILAE and Semiological seizure classifications before and after video-EEG monitoring in childhood epilepsy.

OBJECTIVE: Our aim in this study is to evaluate epilepsy classification in children with epilepsy before monitoring (based on information received from the family) and after monitoring (based on video-EEG) by comparing two separate classification systems, namely the 2017 International League Against Epilepsy (ILAE) and Semiological Seizure Classification (SSC) systems. Classifications and methods were compared in terms of simplicity, intelligibility, and applicability during daily outpatient care. PATIENTS AND METHODS: The study was performed with 230 recorded seizures of 173 patients aged between 1 and 18 years who underwent video-EEG monitoring and clinical seizure recordings. Seizure types and video-EEG data of the patients were recorded. Seizures were first classified based on information obtained from the parents of the patients in interviews, recorded as "before video-EEG monitoring classification," and a second characterization, based on video EEG-monitoring, was subsequently recorded as "after video-EEG monitoring classification". The consistency of both seizure classifications was evaluated. RESULTS: For both classifications, autonomic seizures were the least congruent seizures (κ=0.27, κ=-0.005). The families generally described the seizures very well; the consistency before and after video-EEG monitoring was good. Focal seizures with impaired awareness were most common in the 2017 ILAE classification (κ=0.6), while for the SSC simple motor seizures were most common (κ=0.84). Among subtypes, clonic-tonic seizures were the most common, and the second most common subtype was dialeptic (κ=0.67). Overall, the harmony between the SSC and ILAE systems was good. The rate of good and excellent coefficients of concordance for both the SSC and 2017 ILAE was determined as 77.8% for the expanded SSC, 48% for the 2017 ILAE, 71.4% for the basic SSC, and 60% for the 2017 ILAE. CONCLUSIONS: In practice, it is difficult to determine seizure patterns reliably in cases of childhood epilepsy. Parents, however, can generally describe seizures very well. Although the SSC seems to be superior, both the SSC and 2017 ILAE systems can be applied in daily use. Such classification enables the rise of new concepts and a better understanding of disease groups. The continuing development of classification systems will lead to advancements for patients.

Electrical status epilepticus during sleep (ESES) in benign childhood epilepsy with Centrotemporal spikes (BCECTS): insights into predictive factors, and clinical and EEG outcomes.

OBJECTIVE: Benign childhood epilepsy with centro-temporal spikes (BCECTS), otherwise known as benign rolandic epilepsy, is the most common focal epilepsy in childhood. This study aimed to evaluate the development and resolution of ESES in children with BCECTS and evaluate the clinical and electroencephalography (EEG) parameters associated with prognosis. PATIENTS AND METHODS: Resolution of ESES was defined as the reduction of the spike-wave index (SWI) to <50%. The SWI short method, measurements from the first 180 s of non-rapid eye movement; and the conventional method, measurements from total NREM stage 2, SW count during the first 60 and 180 s of NREM, SW localization, and ESES type were determined. RESULTS: Of a total of 126 BCECTS patients, 33, including 13 females, 20 males, who developed ESES during follow-up, were included in the study. ESES remission was observed in 42.4% (n = 14) of the patients. The median time to remission was 10.5 months. The rate of resolution was 87.9 % for the entire population. The mean age at resolution was 9.8 ± 2.05 years and the mean time to resolution was 8.8 months. CONCLUSIONS: The data demonstrated that age at ESES diagnosis, the time between BCECTS diagnosis and the onset of ESES, time to resolution of ESES, ESES remission, and seizure freedom after ESES were significantly associated with prognosis. The early recognition of ESES evolution in children with BECTS, the better understanding of the relationship between age at ESES diagnosis and remission and prognosis, and timely intervention can prevent long-term sequelae.

COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE.

Cobalamin C (CbIC) deficiency is a rare disorder of vitamin B12 metabolism which results from impaired conversion of both its active forms methylcobalamin and adenosylcobalamin. Early onset cblC typically presents in the first year of life with hypotonia, lethargy, seizures, microcephaly, hydrocephalus, developmental delay and other multisystem involvement including hematologic, ocular, renal, hepatic and cardiac symptoms. We report a case of a female infant with cblC deficiency who presented with seizures, developmental delay and hypopigmented cutaneous lesions. To our knowledge, the patient is the first diagnosed with cblC deficiency who had skin hypopigmentation.

Assessment of citrullinated myelin by 1H-MR spectroscopy in early-onset multiple sclerosis.

BACKGROUND AND PURPOSE: Myelin instability and citrullinated myelin basic protein have been demonstrated in the brains of patients with chronic and fulminating forms of multiple sclerosis (MS). Our aim was to trace citrulline in the brains of patients with early-onset MS by using proton MR spectroscopy ((1)H-MR spectroscopy). MATERIALS AND METHODS: A short-echo single-voxel (1)H-MR spectroscopy by using the point-resolved proton spectroscopy sequence was performed in 27 patients with MS and 23 healthy subjects. Voxels of interest were chronic demyelinating lesions (CDLs, n = 25) and normal-appearing white matter (NAWM, n = 25) on T2-weighted imaging, and when available in patients with MS, enhancing demyelinating lesions (EDLs, n = 8). Frontal white matter (WM) was studied in control subjects. N-acetylaspartate, choline, and myo-inositol (mIns)-creatine (Cr) ratios and the presence of a citrulline peak were noted. RESULTS: Citrulline peaks were more frequently observed in patients with MS than in control subjects (P = .035), located in the NAWM in 8/25 (32%), in CDLs in 7/25 (28%), and in EDLs of 1/8 (12.5%) patients with MS. The presence of citrulline and measured metabolite/Cr ratios was not related to age at imaging, age at disease onset, duration of disease, or number of relapses. There was no significant metabolic difference between the NAWM of patients with MS and the WM of the control subjects. mIns/Cr was significantly greater in CDLs compared with the NAWM of patients with MS and the WM of healthy subjects. CONCLUSIONS: Citrulline was more frequently identified in the brains of patients with early-onset MS than in healthy subjects by (1)H-MR spectroscopy, suggesting an association of increased citrullination of myelin proteins with demyelinating diseases.

Atypical presentations of subacute sclerosing panencephalitis in two neurologically handicapped cases.

Subacute sclerosing panencephalitis (SSPE) is a neurodegenerative disorder caused by persistent measles infection. Here, we report two neurologically handicapped cases presenting with atypical features of SSPE. Patient 1 who had mild mental retardation manifested acute encephalopathy with partial seizures and hemiplegia, mimicking encephalitis. He showed a fulminant course without myoclonia or a periodic electroencephalogram complex. Although SSPE is usually associated with an increased diffusion pattern, diffusion-weighted imaging of our patient showed decreased diffusion in the right hippocampus. Patient 2 with infantile hemiparesis presented with secondary generalized seizures, followed by asymettrical myoclonias involving the side contralateral to the hemiparesis. A periodic electroencephalogram complex was absent on the previously damaged brain regions. Our findings show that preexisting neurological disorders may modify the clinical or electrophysiological findings of SSPE, leading to atypical presentations. SSPE should be considered in the differential diagnosis of acute encephalopathy with lateralizing signs or unidentified seizures. Decreased diffusion resolution in diffusion-weighted-imaging may correlate with rapid clinical progression in SSPE.

Surgery in temporal lobe epilepsy patients without cranial MRI lateralization.

High resolution MRI is very important in the evaluations of patients with intractable temporal lobe epilepsy in preoperative investigations. Morphologic abnormalities on cranial MRI usually indicate the epileptogenic focus. Intractable TLE patients who have normal cranial MRI or bilateral hippocampal atrophy may have a chance for surgery if a certain epileptogenic focus is determined. We evaluated the patients who were monitorized in Gazi University Medical Faculty Epilepsy Center from October 1997 to April 2004. Seventy three patients, who had a temporal epileptogenic focus, underwent anterior temporal lobectomy at Ankara University Medical Faculty Department of Neurosurgery. Twelve of them (16, 4%), did not have any localizing structural lesion on cranial MRI. Of the 12 patients examined 6 had normal findings and 6 had bilateral hippocampal atrophy. Of these 12 patients, 6 (50%) were women and 6 (50%) were men. The ages of patients ranged from 7 to 37 (mean: 24.5). Preoperatively long-term scalp video-EEG monitoring, cranial MRI, neuropsychological tests, and Wada test were applied in all patients. Five patients, whose investigations resulted in conflicting data, underwent invasive monitoring by the use of subdural strips. The seizure outcome of patients were classified according to Engel with postsurgical follow-up ranging from 11 to 52 (median: 35.7) months. Nine patients (75%) were classified into Engel's Class I and the other 3 patients (25%) were placed into Engel's Class II. One patient who was classified into Engel's Class II had additional psychiatric problems. The other patient had two different epileptogenic foci independent from each other in her ictal EEG. One of them localized in the right anterior temporal area, the other was in the right frontal lobe. She was classified in Engel's Class II and had no seizure originating from temporal epileptic focus, but few seizures originating from the frontal region continued after the surgery. In conclusion, surgery was successful in all 12 patients. We think that patients with no MRI lateralizing or localizing lesion should undergo epilepsy surgery after detailed presurgical evaluations, including invasive monitoring.

Macular retinitis as a first sign of subacute sclerosing panencephalitis: the importance of early diagnosis.

PURPOSE: Subacute sclerosing panencephalitis (SSPE) is a subacute inflammatory and neurodegenerative encephalitis related to the measles (rubeola) virus and usually affecting children and young adults. The overwhelming majority of cases follow a progressive downhill course leading to death, although there have been a few case reports of patients who have apparently gone into remission. Ocular changes occur in up to 50% of SSPE cases. Visual complaints, if present, generally antedate the onset of neurological symptoms by a few weeks or months. Here, we report two cases of SSPE presenting with ocular findings and their prognoses. METHODS: Case reports. In the first case, a 17-year-old male presenting with macular retinitis, the macular findings were mistaken for a heredodegenerative disorder and diagnosis was postponed until neurological findings took place. He died six months after the appearance of his first ophthalmic symptoms despite intravenous immune globulin and isoprinosine therapy. The second case was a 14-year-old male, who presented with only ophthalmological complaints. His diagnosis was based on both ophthalmological findings and high doses of measles IgG in the cerebrospinal fluid (CSF); isoprinosine and intramuscular beta-interferon therapy was started before the onset of neurological findings and in the follow-up time of about 18 months, neurological findings consistent with SSPE did not develop. RESULTS: The characteristic finding of macular retinitis in SSPE patients is rapid recovery in about one month without therapy. After improvement, neurological findings take place. Once suspected, the diagnosis of SSPE is easily established by the demonstration of high levels of measles antibody in the serum and CSF. Early diagnosis can be made with typical ocular findings and high IgG titers for rubeola in CSF. CONCLUSION: We suppose that ophthalmic manifestations, especially macular retinitis, may be useful in the diagnosis and management of SSPE cases with elevated IgG titers for rubeola in CSF. The typical clinical findings must be familiar to every ophthalmologist so that diagnostic pitfalls can be prevented and early therapy started. It may be discussed if early diagnosis and therapy will be possible before neurological signs appear, the prognosis of this relentless disease may show a more favorable course.

Acute disseminated encephalomyelitis in children: outcome and prognosis.

BACKGROUND: Acute disseminated encephalomyelitis (ADEM) is the most common demyelinating disorder of childhood. Its clinical features, prognosis and treatment vary in different reports. OBJECTIVES: To examine a series of children with ADEM for clinical findings, course, recurrences, and possible variables affecting outcome. METHODS: Multicentric data collected from 7 tertiary referral centers were registered and evaluated in a central database in 1990 - 2001 for clinical, laboratory, and MRI features. Course and prognosis were assessed in patients with at least 12 months' follow-up. RESULTS: Forty-six patients were evaluated. Median age at onset was 8 years, M/F ratio, 1.7/1. Most common symptoms and signs pertained to the motor system and consciousness. Of 39 children with 12 months' follow-up, 71 % recovered completely. Thirteen (33 %) children had relapses. Patients who had more than one relapse (n = 4) presented with new symptoms at each attack. Treatment with high-dose methylprednisolone was associated with complete recovery, and tapering over more than 3 weeks, with a lower rate of relapses. MRI lesions could persist even in asymptomatic patients; in particular, periventricular lesions tended to disappear later than others. CONCLUSIONS: Complete clinical recovery is common and serious complications are rare in childhood ADEM, but the rate of relapses is considerable. Clinical picture at first relapse may help to identify patients likely to experience multiple relapses. The timing and duration of steroid treatment affects outcome.

Plasma homocysteine and lipoprotein (a) levels as risk factors for atherosclerotic vascular disease in epileptic children taking anticonvulsants.

AIM: To assess the effect of anticonvulsant treatment on plasma homocysteine level and lipoprotein (a) in epileptic children. METHODS: Plasma total homocysteine, folate, vitamin B12 and lipoprotein (a) concentrations were measured in 111 epilectic children taking anticonvulsant drugs for longer than 12 mo. Forty-six healthy, sex- and age-matched children served as controls. RESULTS: Patients and controls differed significantly in concentrations of homocysteine (p < 0.05) and lipoprotein (a) (p < 0.001). The number of patients with homocysteine concentrations of >9 microM was significantly higher in the patient group than in the control group. A significant inverse relationship was found between vitamin B12 folate levels and plasma homocysteine levels in the patient group; 28.8% of the patient group had lipoprotein (a) concentrations above the cut-off value (30 mg/dl) for increased risk of early atherosclerosis, whereas none of the control patients had concentrations above this value. CONCLUSION: These data indicate that prolonged anticonvulsant treatment could increase plasma homocysteine and lipoprotein (a) concentrations and that it may be useful to measure the levels routinely in order to prevent atherosclerosis in epileptic children taking anticonvulsant drugs.

A study on the prevalence of accessory auricle anomaly in Turkey.

OBJECTIVE: Accessory auricular anomaly is a small elevation of skin containing a bar of elastic cartilage localized most commonly just anterior to the tragus or ascending crus of the helix. The anomaly may exist isolated or may be associated with other congenital anomalies of the first arch. The purpose in this study is to detect prevalence of accessory auricle in Turkey and find out whether it is associated with other craniofacial anomalies or hearing loss. METHODS: The study was performed on 850 children from the age of 7 to 9 during a screening program in primary schools. Complete otolaryngologic examination and acoustic reflectometry measurements were performed on all the children. Full physical examination, tympanometric and audiometric evaluation and EEG measurements were added to the cases with accessory auricle anomaly. RESULTS: Among 850 children examined, four had accessory auricle anomaly and prevalence of the anomaly was calculated as 0.47% (95% confidence interval (CI), 0.13-1.20%). Children were developmentally normal, and no other congenital craniofacial or systemic anomaly was detected in any of the cases. Further, tympanometric, audiometric evaluations and EEG tests were in normal limits. CONCLUSIONS: In this study, the prevalence rate of the condition was calculated as 0.47%. Although one study from China reported this prevalence as 0.22%, the difference between the reported prevalances was not statistically significant. Further, although external ear anomalies may present together with cranifacial anomalies and neurologic disorders like epilepsy, neuromotor retardation and EEG disorders, in our cases, mental and motor development was normal and epilepsy history or abnormal EEG patterns do not exist. On the other hand, no hearing loss was found to be associated with accessory auricles.

Complex partial seizure mimicking psychotic reaction in an adolescent.

A previously healthy 15-year-old boy initially diagnosed to have acute psychotic reaction had a history of a single generalized seizure and prolonged amnestic states of varying intensity and duration. An ictal electroencephalogram (EEG) showed bitemporal ictal discharges starting from the left side. Carbamazepine was started. A magnetic resonance imaging (MRI) obtained on the 10th day of the antiepileptic therapy showed increased signal intensity on the T2 weighted images. The patient's memory function markedly improved during 10 months' follow-up with antiepileptic treatment, although he described brief attacks of dizziness. A repeat MRI examination showed normal findings. The amnesticstates were thought to be due to frequent complex partial seizures, and transient MRI changes to hippocampal edema. This case illustrates the importance of epileptic disorders in the differential diagnosis of psychiatric conditions.

Guillain-Barré syndrome in a child with acute lymphoblastic leukemia.

A 4-year-old boy with acute lymphoblastic leukemia receiving maintenance treatment developed quadriparesis, facial palsy, difficulty in swallowing, and hypertension following a respiratory infection and candida septicemia. Examination of the cerebrospinal fluid was normal initially but later showed albuminocytologic dissociation, the characteristic finding of Guillain-Barré syndrome. Complete recovery occurred after treatment with intravenous immunoglobulin. Differential diagnosis of Guillain-Barré syndrome from vincristine toxicity in patients with leukemia and possible association with the infections are discussed.

Moyamoya syndrome after radiation therapy for optic pathway glioma: case report.

We present a 4-year-old girl with neurofibromatosis-1 who developed moyamoya syndrome characterized by bilateral stenosis or occlusion of the distal internal carotid arteries and their branches, leading to the development of an abnormal vascular network. In light of a literature review, the postradiation vasculopathy of the moyamoya type and its relationship with neurofibromatosis-1 are discussed.

Tremor and myoclonus heralding Hashimoto's encephalopathy.

We report the clinical laboratory, electroencephalography (EEG), magnetic resonance imaging (MRI) and single photon emission computerized tomography (SPECT) findings in a 15 year-old euthyroid girl with autoimmune thyroiditis and encephalopathy. She had stupor, coma and generalized tonic clonic seizure preceded by tremor and myoclonus with a previous misdiagnosis of epilepsy and encephalitis. Response to steroid after the 3rd relapse was excellent. Another four children in the literature are also discussed.

Incidence of seizures in pediatric cancer patients treated with imipenem/cilastatin.

Proconvulsive tendency of imipenem/cilastatin is one of its well-known side effects. Most studies report incidence rates ranging from 1.5 to 3%. There is no study on the incidence rate among children with systemic malignancies. Eighty-two patients with various malignancies who received imipenem/cilastatin 143 times for neutropenic fever between March 1994 and October 1999 in Department of Pediatric Oncology, Gazi University, were identified. Three of these patients had convulsions attributed to imipenem/cilastatin; 3.6% of the patients had seizure, or 2% of imipenem/cilastatin administrations was followed by a seizure attack.

Neonatal cerebral venous thrombosis coexisting with bilateral adrenal hemorrhage.

We report a case of severe perinatal asphyxia with both cerebral venous thrombosis and adrenal hemorrhage who survived with severe sequela including multicystic encephalomalasia, acquired microcephaly and blindness. Hematological investigations showed normal levels of anticardiolipin antibodies, protein C and S levels and activity, antithrombin III levels. Factor V Leiden mutation was negative. The adrenal hemorrhage resolved within three months with glucocorticoid therapy, the cerebral venous thrombosis resolved within two months without treatment. The literature on neonatal cerebral venous thrombosis is also reviewed.

Evaluation of bone mineral metabolism in children receiving carbamazepine and valproic acid.

Dual energy X-ray absorptiometry (DXA) was used to assess lumbar spine (L2-4) and femoral neck bone mineral density (BMD) in 36 children taking either carbamazepine or valproic acid for longer than one year, for generalized idiopathic epilepsy. Patients were matched with controls. Biochemical parameters of bone mineral metabolism were also measured. BMD values at both the femur neck and lumbar spine in both the carbamazepine and valproic acid groups were not significantly different from that of the control group. Serum levels of calcium were subnormal and alkaline phosphatase levels were high in the carbamazepine group. Urinary calcium levels were significantly lower in both groups than in the control group (p< or =0.05) and also significantly lower in the valproic acid group than in the carbamazepine group (p< or = 0.05). There were no other significant biochemical changes in either group. In conclusion, the results suggest that valproic acid and carbamazepine monotherapies have minimal effects on bone mineral metabolism, but routine monitoring of risk and consideration of prophylactic vitamin D supplementation is important.

Methyl-prednisolone in neurologic complications of Mycoplasma pneumonia.

In patients with Mycoplasma pneumonia extrapulmonary manifestations such as encephalitis, meningitis, cerebellar and brain stem involvement, cranial nerve lesions, peripheral neuropathy, polymyositis have been observed. We report a 16-year-old girl with M. pneumonia infection, acute behavioral changes and coma. Treatment with high dose methyl-prednisolone and clarithromycin led to rapid clinical improvement.

The serum nitric oxide levels in patients with Duchenne muscular dystrophy.

Nitric oxide is formed in skeletal muscle by the neuronal type nitric oxide synthase and the signalling function of dystrophin and related compounds are in part mediated by nitric oxide. Duchenne muscular dystrophy, mdx mice and patients with Becker dystrophy demonstrated neuronal type nitric oxide synthase deficiency in muscle biopsy specimens. We have intended to find out whether the plasma nitric oxide levels show any abnormality in patients with Duchenne muscular dystrophy. Serum NO levels of Duchenne patients (4.191+/-2.82 micromol/l) were significantly lower than those of the control (39.53+/-19.43 micromol/l) and cerebral palsy (77.84+/-21.70 micromol/l) groups.