Background. Amyotrophic lateral sclerosis (ALS) is a chronic motor neuron disease characterised by progressive weakness in striated muscles resulting from the destruction of neuronal cells. The term juvenile ALS (JALS) is used for patients whose symptoms start before 25 years of age. JALS may be sporadic or familial.Case. Here, we present a sporadic case of JALS because of its rarity in children. The heterozygous p.Pro525Leu (c.1574C>T) variation was identified in the fused in sarcoma (FUS) gene. Conclusion.The p.Pro525Leu mutation in the FUS gene has been detected in patients with ALS, characterised by early onset and a severely progressive course.
ObjectiveBehçet's disease (BD) is a vasculitis characterised by eye, musculoskeletal, neurological and gastrointestinal involvement, in addition to recurrent oral ulcers. Neuro-Behçet is the term used to define the nervous system involvement in BD and is very rarely seen in childhood. This study aims to show that neuro-Behçet can manifest a clinical course involving all kinds of neurologic findings in the paediatric population. MethodsThe Clinic of Paediatric Neurology at Uludag University provides tertiary treatment for children up to eighteen years of age in Bursa, Turkey. Five patients who were clinically diagnosed with Neuro-Behçet in the last 5 years were included in the study. Results Seizure, myopathy, transverse myelitis, polyneuropathy, venous thrombosis and facial nerve paralysis were respectivelyseen in the patients. ConclusionNeuro-Behçet is rare in children, but it is important to know that it can cause various neurological findings, and also systemic findings should be taken into consideration in the diagnosis of neurological diseases. Studies on the neurological involvement of BD in children are inadequate. We believe that paediatric neurologists should be more aware of the neuro-Behçet condition.
Objective: To evaluate whether antenatal magnesium sulphate (MgSO4) exposure has a neuroprotective effect against hearing impairment in premature newborns. Material and Methods: Retrospective cohort study was performed with prematurely (<37 weeks) delivered newborns at a tertiary university hospital. Newborns of 92 women who received MgSO4 infusions (study group) for various indications were compared to newborns of 147 women who did not receive MgSO4 infusions (control group). All eligible premature newborn underwent hearing screening by auditory brainstem response (ABR) testing before being discharged from the hospital. Results: The fail rate for ABR hearing screening was 3.3% (n=3) in the study group and 10.9% (n=16) in the control group (p=0.034). The rate of concurrent use of betamethasone was higher in the study group (72.8%; n=67) compared to control group (29.2%; n=43) (p<0.001). Other neonatal parameters, such as the number of neonates who were small for gestational age and the rate of microcephaly were similar between the groups (p=0.54, p=0.48, respectively). After adjusting for co-variates including the use of betamethasone and gestational age at delivery, no statistically significant association between antenatal administration of MgSO4 and ABR fail rates were found (p=0.07). Conclusion: These results do not suggest a significant benefit in terms of hearing impairment in premature newborns when antenatal MgSO4 infusion was given.
Giriş: Konvülziyon yenidoğan yoğun bakım ünitelerinde (YDYBÜ) en sık görülen nörolojik sorunlardandır. Sıklığı ve etiyolojisi preterm ve term bebeklerde farklılık göstermektedir. Bu çalışma ile term ve preterm bebeklerde neonatal konvülziyonların özellikleri, nedenleri, tedaviye yanıtı ve prognozu etkileyen faktörlerin araştırılması amaçlanmıştır. Gereç ve Yöntem: Çalışma retrospektif olarak 01/01/2014-01/09/2019 yılları arasında YDYBÜ'de yatarken neonatal konvülziyon tanısı almış olan veya neonatal konvülziyon tanısıyla YDYBÜ'ne yatırılan preterm ve term hastaların dosya verileri alınarak yapıldı. Nörolojik prognoz göstergesi olarak kaba motor fonksiyon sınıflaması, işitme testi sonuçları, epilepsi oranlarına bakılmıştır. Bulgular: Çalışmaya neonatal konvülziyon tanısı alan 43 preterm, 43 term bebek olmak üzere toplam 86 hasta alındı. Term hastalarda hipoksik iskemik ensefalopati (HİE) (%35), preterm bebeklerde intraventriküler hemoraji (İVH) (%54) en sık etiyolojik faktördü. Preterm bebeklerde subtle, term bebeklerde klonik nöbetler daha sıktı. Konvülziyon başlama zamanı term bebeklerde ilk gün ve 4-7 gün arasında, preterm bebeklerde ise yedi günden sonrası daha fazlaydı (p<0,05). Preterm bebeklerde İVH'ye bağlı konvülziyonlar yedi günden sonra, HİE'ye bağlı olanlar ilk gün daha yüksekti (p<0,05). Status epileptikus, pretermler bebeklerde (%30) term bebeklerden (%9,3) daha fazlaydı (p=0,015). İlk tercih antikonvülzan olan fenobarbital tedavisine yanıt term bebeklerde %71, preterm bebeklerde ise %50 idi (p=0,06). Çalışmamızda alınan kriterlere (ölüm, epilepsi, işitme kaybı, otizm ve kaba motor fonksiyon skalası >2) göre kötü prognoz oranları term bebeklerde %52 (n=16) ve preterm bebeklerde ise %75'dir (n=22) (p=0,051). Sonuç: Neonatal konvülziyon etiyolojisinde preterm bebeklerde İVH, term bebeklerde ise HİE ilk sırada bulunmuştur. Yenidoğan döneminde konvülziyon geçiren hastaların nörolojik gelişimlerinin yakın takip edilmesi gerekmektedir.
GİRİŞ ve AMAÇ: Nöral tüp defektleri (NTD) yenidoğanlarda en sık saptanan konjenital anomalilerden biridir. Türkiyedeki görülme sıklığı 3/1000'dir. NTD'lerin etiyolojisi multifaktöriyel olup önemli bir kısmının folik asit desteği ile önlenebilmesi mümkündür. NTD olan hastaların uzun dönem medikal, cerrahi ve bakım desteği ihtiyacı vardır.
Background: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle. Objective: The study aimed to describe the clinical and genetic spectrum of Myotonia congenita in a large pediatric cohort. Methods: Demographic, genetic, and clinical data of the patients aged under 18 years at time of first clinical attendance from 11 centers in different geographical regions of Türkiye were retrospectively investigated. Results: Fifty-four patients (mean age:15.2 years (±5.5), 76% males, with 85% Becker, 15% Thomsen form) from 40 families were included. Consanguineous marriage rate was 67%. 70,5% of patients had a family member with Myotonia congenita. The mean age of disease onset was 5.7 (±4.9) years. Overall 23 different mutations (2/23 were novel) were detected in 52 patients, and large exon deletions were identified in two siblings. Thomsen and Becker forms were observed concomitantly in one family. Carbamazepine (46.3%), mexiletine (27.8%), phenytoin (9.3%) were preferred for treatment. Conclusions: The clinical and genetic heterogeneity, as well as the limited response to current treatment options, constitutes an ongoing challenge. In our cohort, recessive Myotonia congenita was more frequent and novel mutations will contribute to the literature.
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