Neurological and Psychosocial Evaluation of Pediatric Celiac Patients: Diet Adherence-Case Control Study

Objective: The aim of this study was to evaluate the neurological evaluation of pediatric patients with celiac disease and to compare with adherence to gluten-free diet (GFD) and non-adherence GFD and to evaluate the behavioral characteristics of these patients

Çocukluk Çağında Romatizmal Hastalıkların Romatizma Dışı Ayırıcı Tanıları

ÖZET Romatolojik hastalıklarda klinik spektrum oldukça geniştir. Ateş, halsizlik, eklem ağrıları ve cilt lezyonları romatolojik hastalıklarda sık görülen semptomlardır. Baş ağrısı, nöropati, kas güçsüzlüğü, nöbetler ve bilişsel bozukluklar gibi nörolojik semptomlar romatolojik hastalıkların seyrinde ortaya çı- kabileceği gibi ilk başvuru sebebi de olabilir. Yeni çalışmalarla nörolojik pek çok hastalığın altında yatan otoimmün mekanizmalar araştırılmakta ve romatolojik hastalıklarla benzer patofizyolojik mekanizma- lar aydınlatılmaktadır. Başta sistemik lupus eritematozus, Sjögren ve Behçet olmak üzere pek çok ro- matolojik hastalıkta santral sinir sistemi ve periferik sinir sistemi tutulumları sıklıkla görülmektedir. Nörolojik bulgularla başvuran hastada ayırıcı tanıda romatolojik hastalıkların değerlendirilmesi tanının gecikmemesi açısından önemlidir. Bu sayede oluşabilecek kalıcı nörolojik sekeller önlenebileceği gibi morbidite ve mortalite sıklığı azaltılabilir. Anahtar Kelimeler: Sinir sistemi hastalıkları; nörolojik belirtile

Neonatal hypoxic ischemic encephalopathy: an update on disease pathogenesis and treatment.

Introduction: Hypoxic ischemic encephalopathy (HIE) is the most important reason for morbidity and mortality in term-born infants. Understanding pathophysiology of the brain damage is essential for the early detection of patients with high risk for HIE and development of strategies for their treatments.Areas covered: This review discusses pathophysiology of the neonatal HIE and its treatment options, including hypothermia, melatonin, allopurinol, topiramate, erythropoietin, N-acetylcyctein, magnesium sulphate and xenon.Expert commentary: Several clinical studies have been performed in order to decrease the risk of brain injury due to difficulties in the early diagnosis and treatment, and to develop strategies for better long-term outcomes. Although currently standard treatment methods include therapeutic hypothermia for neonates with moderate to severe HIE, new supportive options are needed to enhance neuroprotective effects of the hypothermia, which should aim to reduce production of the free radicals and to have anti-inflammatory and anti-apoptotic actions

Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.

Hereditary spastic paraplegia type 35 (SPG35) is a rare disorder characterized by progressive spasticity. Mutations in the fatty acid 2-hydroxylase (FA2H) gene in different loci are responsible for phenotypic variability. We aimed to define the phenotype of SPG35 linked to a novel homozygous mutation c.160_169dup (p. Asp57Glyfs*48) in the FA2H gene, and compared with the clinical characteristics and neuroimaging findings of the patients with mutation in the FA2H gene. We describe a 5-year-old boy presenting with spastic paraplegia. He developed a rapid progressive spastic paraplegia and loss of ambulation at an early age, despite the absence of accompanying seizure, neuropathy, cognitive impairment, speech disturbance, and optic atrophy. Neuroimaging revealed white matter changes without brain iron accumulation. A duplication variation; leading to a truncated protein c. 160_169dup in the FA2H gene was found on the homozygous state. A homozygous mutation c.160_169dup in the FA2H gene, which resulted in SPG35 phenotype, may present with rapid progressive spastic paraplegia at an early age

Progressive Multifocal Leukoencephalopathy in Children with Primary and Secondary Immune Deficiency.

Progressive multifocal leukoencephalopathy (PML) is a fatal demyelinating disease of the central nervous system that is caused by John Cunningham virus (JCV). It occurs almost exclusively in immunosuppressed individuals, for example, patients with AIDS and hematological and lymphoreticular malignancies. In this article, we present a review of the literature and 2 case reports with PML. The first report examines a 15-year-old male (who presented with dedicator of cytokinesis 8 deficiency) who was diagnosed as having PML based on characteristic magnetic resonance imaging (MRI) lesions and a positive PCR for JCV in cerebrospinal fluid. He was transferred for bone marrow transplantation after stabilization with therapy of maraviroc and cidofovir. The second report examines a 6-year-old male who presented with encephalitis and was also diagnosed with AIDS. He was diagnosed with PML and started treatment with cidofovir. His clinical status and MRI findings deteriorated rapidly. In immunosuppressive patients who developed encephalopathy, JCV ought to be considered