Search

Objective: The aim of this study was to evaluate the clinical characteristics of children with cerebral palsy (CP) and to investigate possible risk factors and prognosis of epilepsy in children with cerebral palsy (CP) with a special emphasis on drug-resistant epilepsy (DRE). Materials and Methods: A total of 145 pediatric patients who were followed up with a diagnosis of CP between 2019 and 2022 were evaluated. Demographic features, prenatal/perinatal history, etiology and type of CP, degree of impairment in motor and cognitive functions, seizure type, neuroimaging, and electroencephalography (EEG) findings were obtained retrospectively from hospital records. The patients were divided into two groups: CP patients with epilepsy and patients without epilepsy. Study variables were compared between these two groups and also between DRE and controlled epilepsy groups. Results: There were 91 (63%) boys and 54 (37%) girls with a mean age of 11.1 ± 4.2 years (3-18 years). Epilepsy was present in 107 (73.7%) cases and 40.1% of them had refractory epilepsy. Epilepsy was most common in the tetraplegic form of CP (p=0.028). Term gestation, birth weight of ≥2500 g, and history of neonatal seizures were significantly higher in patients with epilepsy (p=0.03, 0.01, and 0.03, respectively). Children with DRE were more likely to have tetraplegic CP (50%) and severe intellectual disability (56%). Conclusion: Determination of potential risk factors is important in predicting the development of epilepsy in patients with CP, as it may provide closer follow-up of patients at high risk. Particular attention should be paid to the early identification and treatment of comorbid epilepsy in children with CP., Amaç: Bu çalışmada serebral palsili (SP) çocuklarda klinik özellikler ile epilepsi gelişiminde olası risk faktörlerinin ve epilepsi prognozunun değerlendirilmesi amaçlanmıştır. Gereç ve Yöntemler: 2019-2022 yılları arasında SP tanısı ile takip edilen toplam 145 çocuk hasta değerlendirilmiştir. Olguların demografik bilgileri, prenatal/perinatal öyküsü, SP etiyolojisi ve tipi, motor ve bilişsel fonksiyonlardaki bozukluğun derecesi, nöbet tipi, nörogörüntüleme ve elektroensefalografi (EEG) bulguları hastane kayıtlarından retrospektif olarak toplanmıştır. Olgular epilepsisi olan ve epilepsisi olmayan SP hastaları olmak üzere iki gruba ayrılmıştır. Çalışma değişkenleri bu iki grup arasında ve ayrıca dirençli epilepsi ile kontrollü epilepsi grupları arasında karşılaştırılmıştır. Bulgular: Olguların 91'i (%63) erkek, 54'ü (%37) kız ve ortalama yaşı 11.1±4.2 yıl (3-18 yaş) idi. Toplam 107 (%73.7) olguda epilepsi mevcuttu ve bunların %40.1'i dirençli epilepsi idi. Epilepsi grubunda en sık SP tipi tetraplejik SP idi (p=0.028). Term gebelik, ≥2500 g doğum ağırlığı ve neonatal nöbet öyküsü epilepsili SP grubunda anlamlı olarak daha fazla idi (sırasıyla p=0.03, 0.01 ve 0.03). Dirençli epilepsi grubunda tetraplejik SP tipi (%50) ve ağır zihinsel yetersizlik (%56) görülme oranı kontrollü epilepsi grubuna göre daha yüksekti. Sonuç: Serebral palsili hastalarda epilepsi gelişiminin öngörülmesinde olası risk faktörlerinin belirlenmesi, yüksek riskli hastaların yakın izlemi açısından önemlidir. Serebral palsili çocuklarda komorbid epilepsinin erken tanımlanması ve tedavisine özellikle dikkat edilmelidir.

Objective: Neonatal convulsions may be an early sign of brain injury and the presence of convulsions in the neonatal period has been associated with long-term sequelaes such as mental retardation, postnatal epilepsy and death. We aimed to determine associations of etiological factors with neurodevelopment and postneonatal epilepsy and evaluate the risk factors in newborns with neonatal convulsions that were not related to hypoxic-ischemic encephalopathy. Material and Methods: This study included full-term infants who were born between January 2010 and December 2014 and had neonatal convulsion history, had no history of hypoxic-ischemic encephalopathy and were followed for at least 1 year at our neurology clinic. Results: Forty-nine patients were included to the study. Among the identified etiologies on first clinical visit, hypoglycemia was the most common cause which was presented in 11 (40.74%; 11/27 patients) patients. During follow-up, 22.4% (n=11) of patients developed postneonatal epilepsy. In 4 of 7 patients with abnormal Bayley II test results, epilepsy developed in the follow-up. The risk for development of postneonatal epilepsy was significantly associated with abnormal neurological findings, such as cerebral palsy or significant delays in developmental stages; being not benefited from acute treatment and follow-up abnormal EEG findings of the patients. Conclusion: Hypoglycemia should be primarily investigated and treated in term neonatal seizures without hypoxia. Abnormal neurological findings, being not benefited from the acute treatment and follow-up EEG findings were associated with developing epilepsy. In the literature, most of the studies were limited due to short follow-up periods. More information about prognostic factors in neonatal convulsions and the occurrence of postneonatal epilepsy is needed., Amaç: Yenidoğan konvulziyonları, yenidoğan döneminde akut nörolojik hastalıkların en yaygın semptomlarından biridir. Hastalarda ölüm, mental retardasyon ve postneonatal epilepsi riskini arttırdığı bilinmektedir. Bu çalışmada sebebi doğumsal hipoksik iskemik ensefalopati olmayan ve hastanemizde yenidoğan konvulziyonu sebebiyle takip edilmiş hastalarda etyolojik faktörler ile nörogelişim ve epilepsi ilişkisi ve risk faktörlerinin değerlendirilmesi amaçlanmıştır. Gereç ve Yöntemler: Bu çalışmaya hastanemiz nöroloji polikliniğinde takipli, Ocak 2010 - Aralık 2014 tarihleri arasında miadında doğan, doğumsal hipoksik iskemik ensefalopati öyküsü olmayıp, yenidoğan döneminde nöbet öyküsü olan, en az 1 yıl takibimizde kalan hastalar dahil edildi. Bulgular: Çalışmaya 49 hasta dahil edildi. İlk başvuru sırasında saptanabilen en sık etyolojik faktör, 11 (%40.74) hastada saptanan hipoglisemiydi. İzlemde hastaların %22.4’ünde (n=11) postneonatal epilepsi geliştiği görüldü. Bayley II testleri anormal saptanan 7 hastanın 4’ünde epilepsi geliştiği belirlendi. Yenidoğan döneminde başlanan tedaviye yanıtın olmaması, anormal nörolojik muayene bulgularının varlığı ve izlemde anormal EEG bulgularının olması, hastalarda postneonatal epilepsi gelişimi için risk faktörleri arasındaydı. Sonuç: Hipoglisemi, yenidoğan nöbetlerinde saptanabilen ve tedavi edilebilen sebeplerden bir tanesidir. Anormal nörolojik muayene bulguları, başlanan tedaviye alınan yanıtlar ve izlem EEG bulguları epilepsi gelişimi ile ilişkili görüldü. Bu konuda yapılmış olan çalışmaların çoğu, kısa gözlem süreleri sebebiyle sınırlıdır. Yenidoğan konvulziyonları ve postneonatal epilepsi gelişimi açısından daha fazla prognostik faktör belirlemek için daha fazla çalışmaya ihtiyaç vardır.

In this study, we report the first known Turkish case of a novel nonsense mutation c.2453dupT (p.M818fs*28) in the KMT2B (NM_014727.2) gene diagnosed in a male patient with KMT2B-related dystonia (DYT-KMT2B, DYT-28, Dystonia*-28), which is a complex, childhood-onset, progressive, hereditary dystonia. The patient, who is followed up from 9 to 13 years of age, had dysmorphic features, developmental delay, short stature, and microcephaly, in addition to focal dystonia and hemichorea (in the right and left lower extremities). Generalized dystonia involving bulbar and cervical muscles, in addition to dystonic cramps, myoclonus, and hemiballismus, were also observed during the course of the follow-up. While he was able to perform basic functions like eating, climbing stairs, walking, and writing with the aid of levodopa and trihexyphenidyl treatment, his clinical status gradually deteriorated secondary to progressive generalized dystonia in the 4-year follow-up. Deep brain stimulation has been shown to be effective in several patients which could be the next preferred treatment for the patient.

Ictal pouting (Chapeau de gendarme sign) can be described as an inverted smile. It consists of a turned down mouth with the contraction of the chin, wrinkling of the lips and symmetrical lowering of the labial commissures. This shape resembles the gendarme's hat during Napoleon I's time. Chapeau de gendarme sign is frequently seen in frontal and temporal lobe seizures. Focal cortical dysplasias are intrinsically epileptogenic foci and are frequently seen in patients with ictal pouting in seizure semiology. In this report, we analyzed clinical data, video EEG recordings and brain imagings of three children presenting with ictal pouting semiology in whom patients' magnetic resonans images (MRIs) or positron emission tomographies (PETs) were positive or doubtful for FCD in all. In case 1 and 2 the epileptogenic zones were temporal or temporoinsular. In these patients, with involvement of temporal lobe, dystonia and automatisms were seen in the seizure semiology after chapeau de gendarme sign. In case 3 with frontal lobe origin, hypermotor movements were seen after ictal pouting. In the patients 1 and 2, the cortical dysplasias were in temporal lobe. In patient 3, PET demonstrated hypometabolism on left inferior frontal gyrus but we couldn't verify this finding with MRIs. Ictal pouting (Chapeau de gendarme sign) is a distinct seizure semiology that can often be overlooked and coexist with focal cortical thickening. We suggest that focal cortical dysplasias should be searched in patients with ictal pouting particularly in those with refractory focal seizures. (C) 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Tuberous sclerosis complex (TSC) patients may have different specific neuropsychological deficits related to the location of the tubers. Autism spectrum disorders (ASD) are common in TSC patients but the relationship between these diagnoses has not been formally explored. In this study we sought to examine brain Magnetic Resonance Imaging (MRI) findings in TSC patients with ASD.We evaluated 34 TSC patients on the basis of DSM-V diagnostic criteria for ASD, Wechsler Intelligence Scale for Children (WISC-R), psychiatrist's examination and also structured parent interviews. The number and localization of the tubers, postcontrast signal characteristics of the tubers, SWI findings, DWI findings on brain MRI were recorded. Demographic features, epilepsy histories, number of antiseizure medications, cognitive status were eveluated also. Patients were divided into two groups: ASD group, which represented group 1 and group 2 consisting of patients without any ASD symptoms.In our study, the mean number of tuber count was 21.8 in patients with ASD patients (Group 1, n = 13) and 12.4 in other TSC patients without ASD (Group 2, n = 21). Rate of tubers in prefrontal cortex/whole tubers (0.51) in patients with ASD was determined to be higher in group 1 (p = 0.003). Also a significant difference was detected between generalize epileptiform activities on EEG and the rate of DRE (p = 0.002; p = 0.001) between groups. Cognitive disturbances and infantile spasm history were similar between groups. TSC2 mutations have been identified in 29 (86%) patients.The mean of total tuber count and the rate of the location in the prefrontal cortex were determined to be higher in TSC patients with ASD. Specific areas on brain MRI may help understanding the development of ASD in TSC patients.

Introduction: The aim of this study is to investigate a possible association between vitamin D deficiency and diabetic peripheral neuropathy in pediatric patients with type 1 diabetes mellitus.& nbsp;Materials-methods: Twenty-nine patients with type 1 diabetes mellitus and 19 healthy controls were included to the study. All individuals were evaluated for diabetic peripheral neuropathy with nerve conduction studies. Complete blood cell count, biochemical investigations, serum vitamin D levels, hemoglobin A1c levels were recorded.& nbsp;Results: No statistically significant differences between the diabetes and control groups in terms of gender, age, body weight, height, body mass index, systolic and diastolic blood pressures, laboratory investigations, serum vitamin D levels and nerve conduction studies was found. Patients with diabetes were grouped as patients with normal serum vitamin D levels and patients with vitamin D deficiency. Sensory nerve action potential of sural nerve and motor peroneal nerve velocity were statistically significantly lower in diabetic patients with vitamin D deficiency compared to diabetic patients with normal vitamin D levels (p 0.009 and 0.005 respectively).& nbsp;Conclusion: Our results suggested that hypovitaminosis D might lead to development of neuropathic changes particularly on the lower limb nerves even in the early stages of the disease. It should be kept in mind that patients with hypovitaminosis D should be elaborately examined and closely followed up for the development of diabetic neuropathic changes, even if glucose control is achieved.(C) 2022 Published by Elsevier B.V. on behalf of The Japanese Society of Child Neurology.

Aim: The aim of the present study was to evaluate the etiologies, diagnostic approach, clinical and laboratory data of patients with arthritis in a Turkish tertiary care hospital in children.Patients and Methods: 306 hospitalized children aged between 7months-18 years, diagnosed with arthritis were included in the study between 2008 – 2013. The medical records of patients were reviewed retrospectively.Results: Ofthe patients, 51.6% were female, 48.4% were male. The average age was 118 months.Arthritis was symmetrical type in 29.4% of patients and asymmetrical type in 70.6%.The diagnoses of patients were Acute Rheumatic Fever/Poststreptococcal reactivearthritis (ARF/PSRA) (39.2%), Collagen Tissue Disorders (CTD) (29%), Brucellararthritis (13.4%), reactive arthritis (12.5%), septic arthritis (5.2%) and arthritissecondary to malignancy (0.7%), respectively. Of the patients with CTD; Juvenilidiopathic arthritis (JIA) was the most common in frequency (66.3%). Patellarjoint involvement was the most common in frequency (62.4%). The mean ASO levels was significantly higher inpatients with ARF/PSRA group [p=0.000]. Average leucocyte count of ARF/PSRA groupwas significantly higher than CTD group [p=0.000]. Average neutrophilpercentage was significantly higher in ARF/PSRA group than brucellar arthritisgroup [p=0.000]. The mean duration of diagnosis and therapy was found to besignificantly longer in patients with CTD [p=0.000]. All patients were curedexcept one patient with brucellar arthritis. Conclusion: Arthritis canbe a manifestation of multiple disease processes in children. Therefore, theclinician must consider a broad differential diagnosis. Detail history and physical examination with a clinical follow-up inaddition to useful laboratory testing may helpto establish the cause of arthritis in children., Amaç: Bu çalışmanınamacı üçüncü basamak olan bir sağlık kuruluşunda artrit tanısıyla takip edilen çocukhastaların etyolojisi, tanısal yaklaşımı, klinik ve laboratuvar verilerinindeğerlendirilmesidir.Hastalar veYöntemler: 2008 - 2013 yılları arasında, 7 ay-18 yaş arasında, hastanedeyatarak tedavi gören 306 artrit tanılı çocuk çalışmaya dahil edildi. Hastalarıntıbbi kayıtları retrospektif olarak incelendi.Bulgular:Hastaların % 51,6'sı kız, % 48.4'ü erkekti. Yaş ortalaması 118 ay idi. Hastaların% 29.4'ünde simetrik, % 70.6'sında asimetrik tip artrit tespit edildi. Hastalarıntanıları sırasıyla Akut Romatizmal Ateş/Poststreptokoksik reaktif artrit (ARA/PSRA)(% 39.2), Kollajen doku hastalığı (KDH) (% 29), brusella artriti (% 13.4),reaktif artrit (% 12.5), septik artrit (% 5.2) ve maligniteye bağlı artrit (%0.7) idi. Kollajen doku hastalığı grubunda jüvenil idyopatik artrit (JİA) ensık görülen hastalık idi (% 66.3). Patellar eklem tutulumu en sık tutulaneklemdi (% 62.4). ARA / PSRA grubu olan hastalarda ortalama ASO düzeyleriyüksek bulundu [p = 0.000]. ARA / PSRA grubunun ortalama lökosit sayısı, KDHgrubundan yüksekti [p = 0.000]. ARA / PSRA grubunda ortalama nötrofil yüzdesibrusella artriti grubundan daha yüksekti [p = 0.000]. KDH hastalarında ortalamatanı ve tedavi süresi daha uzun bulundu [p = 0.000]. Brusella artriti tanılı birhasta hariç tüm hastalar sekelsiz iyileşti.Sonuç:Artrit çocuklukçağında sistemik hastalık sürecinin bir bulgusu olabilir. Bu nedenle klinisyeninayırıcı tanı listesi geniş olmalıdır. Kapsamlı öykü ve fizik muayeneye ekolarak seçilecek uygun laboratuvar testleriyle birlikte klinik izlem çocuklukçağında artrit nedenlerini aydınlatmaya yardımcı olabilir.

Ethylmalonic encephalopathy (EE) is an autosomal recessive devastating metabolic disorder affecting the brain, gastrointestinal tract, peripheral vessels and rarely the other vascular organs. We report a 10-month-old girl who presented as a meningococcemia clinic but later diagnosed ethylmalonic encephalopathy. Molecular analyses revealed a homozygous c.554 T > G; p. L185R mutation in ETHE1 gene. She was only partially benefited from riboflavine, coenzyme Q10, metronidazole, N-acetylcysteine and symptomatic treatment and discharged from hospital with the sequela of oxygene dependance and developmental delay. We observed N-acetylcysteine 100 mg/kg/day intravenous infusion theraphy may be the most important drug especially in comatous EE patients.