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.
Amaç: Çocuk Enfeksiyon Hastalıkları Polikliniğimizde tüberkülin deri testi (TDT) uygulanan çocuklardaki TDT uygulanma nedenlerini, pozitiflik oranlarını ve etkileyen faktörleri belirlemeyi amaçladık. Gereç ve Yöntem: Uludağ Üniversitesi Tıp Fakültesi Çocuk Enfeksiyon Hastalıkları Bilim Dalı tarafından 1 Ocak-31 Aralık 2010 tarihleri arasında TDT uygulanan 503 olgu testin uygulanma nedenleri, TDT pozitiflik oranları ile bunu etkileyen faktörler yönünden değerlendirildi. Her olguya 5TÜ PPD yapıldı, 72 saat sonra endürasyon çapı ölçülerek değerlendirildi. Olguların yaş, cinsiyet, BCG sayısı, aktif tüberkülozlu olguyla temas hikayesi, tanıları kaydedildi. Bulgular: Olguların %52.9'u erkek olup yaş ortalamaları 7.71±4.70 yıldı (1 ay-18 yaş). TDT uygulanan olguların tanılarına göre dağılımı değerlendirildiğinde %30.8 olguda sık enfeksiyon, %24.3 olguda uzamış öksürük, %11.1 olguda astım/bronşiyal hiperreaktivite (BHR), %8.2 olguda tekrarlayan pnömoni, %6.5 olguda aktif tüberkülozlu olguyla temas, %5.4 olguda lenfadenopati etyolojisi, %2.4 olguda akciğer tüberkülozu, %2.6 olguda immun yetmezlik, %1.6 olguda bronşektazi varlığı saptandı. TDT yapılma nedenleriyle sonuçları karşılaştırıldığında TDT pozitif olguların %73.5 ile en fazla tüberkülozlu olguyla teması olan grupta olduğu görüldü. Sık enfeksiyonlu olgularda %30.9, uzamış öksürüklü olgularda %55.7, astım/ BHR'li olgularda %33.9, tekrarlayan pnömonili olgularda %19.5, lenfadenitli olgularda %29.6, immun yetmezlikli olgularda %38.4, bronşektazili olgularda %50 TDT pozitifliği saptandı. Olguların %91.5'inde BCG skarı olup, %75.1'inde 1, %16.4'ünde 2 skar mevcuttu. Olguların %40.7'sinde TDT>15 mm, %25.6'sında TDT=10-14 mm, %33.8'inde TDT<10 mm ölçüldü. Skar sayısı (p<0.001) ve yaş (p<0.001) arttıkça TDT pozitiflik oranının arttığı görüldü. TDT pozitif saptanan olguların PA-akciğer grafileri çekildi ve %92.4 olguda normal, %3.1 olguda pnömonik infiltrasyon, %1.3 olguda atelektazi, %1.2 olguda hiler dolgunluk izlendi. Toraks tomografisi çekilen 40
Background. Narcolepsy is a chronic neurological syndrome, which is characterized by excessive sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis during the rapid eye movement period of sleep. This disease is commonly diagnosed within adulthood. However, the first symptoms often appear in childhood and/or adolescence. Pediatric cases of narcolepsy generally remain unrecognized and undiagnosed. Clinical heterogeneity, prolonged onset and diverse symptoms contribute to the delay in diagnosis and treatment in childhood. Case. This report describes a case of narcolepsy in an 8,5-year-old male patient who was misdiagnosed as obstructive sleep apnea syndrome and many other diagnoses at different hospitals over a period of 3 years before the correct diagnosis was made. Conclusions. Narcolepsy in children is a rare neurological syndrome, which can occur with uncommon and atypical clinical presentations. In our case report we aimed to highlight pediatric narcolepsy, which could help to make more appropriate approaches and prevent misdiagnoses or diagnosis delay in these cases.
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.
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