Miopatia nemalinowa u noworodka – opis rzadkiej choroby

Nemaline myopathy (NM) is a genetically and clinically heterogeneous muscle disorder, defined by the presence of characteristic nemaline bodies on muscle biopsy. The disease has a wide spectrum of phenotypes, ranging from forms with neonatal onset and fatal outcome to asymptomatic forms. The neonatal form is severe and usually fatal. The clinical variability, with differing age of onset and severity of symptoms makes the diagnosis difficult during infancy. There is no curative treatment. L-tyrosine may prevent aspiration by reducing pharyngeal secretions and drooling. Most of the patients die from respiratory and cardiac failure. This article discusses a newborn infant who presented with generalized weakness and respiratory failure. Partial response to L-tyrosine treatment was noted. The case is worth presenting to remind clinicians of congenital myopathies in the differential diagnosis of floppy infant during neonatal period and to emphasize the importance of muscle biopsy in diagnosis.Miopatia nemalinowa jest schorzeniem mięśni, niejednorodnym pod względem genetycznym i klinicznym. Chorobę cechuje obecność charakterystycznych struktur nemalino-wych w bioptacie mięśnia. Fenotyp jest bardzo zróżnicowany i obejmuje zarówno postacie noworodkowe prowadzące do zgonu, jak i postacie bezobjawowe. Postać noworodkowa przebiega ciężko i zwykle kończy się śmiercią. Zmienność kliniczna, łącznie ze zróżnicowanym wiekiem w chwili wystąpienia objawów i z różnym ich nasileniem, może utrudniać rozpoznanie w wieku niemowlęcym. Choroba jest nieuleczalna. Podawanie L-tyrozyny może zapobiec zachłyśnięciu poprzez zmniejszenie produkcji wydzieliny w gardle i śliny. Większość chorych umiera z powodu niewydolności oddechowej i krążenia. W artykule omówiono przypadek noworodka z uogólnionym niedowładem i niewydolnością oddechową. Reakcja na podawanie L-tyrozyny była częściowa. Przedstawiony opis przypadku ma na celu przypomnienie klinicystom o miopatiach wrodzonych, które należy uwzględniać w rozpoznaniu różnicowym zespołu wiotkiego dziecka w okresie noworodkowym, oraz podkreślenie znaczenia biopsji mięśnia w ustalaniu rozpoznania

Lack of Association of Childhood Partial Epilepsy with Brain Derived Neurotrophic Factor Gene

Brain-derived factor (BDNF) is a member of neurotrophin family and is localized and upregulated in areas implicated in epileptogenesis. Several lines of evidence make the BDNF gene a plausible candidate gene for predisposition to epilepsy. In this study, we tested that BDNF might be involved in the etiology of childhood PE. To assess whether BDNF gene C270T polimorphism could be implicated in vulnerability to PE, we conducted a case-control association analysis (112 partial epileptic and 100 controls) in Turkish children. Epileptic children were divided into two groups: 1—idiopathic (n=85) and 2—symptomathic epilepsy (n=27). There was no significant difference in genotypic distribution and allelic frequencies of the BDNF gene C270T polimorphism between the PE and control groups. However, the BDNF gene TT genotype was more frequently seen in the epileptic children (15 versus 11 patients, resp.). Interestingly, in the epilepsy group, both two children with TT genotype have posttraumatic epilepsy. The data indicate a possible association with the 270T genotype of the BDNF gene with a posttraumatic epilepsy. To draw any conclusion, further studies using larger sample sizes should be carried out in various ethnic populations in childhood epilepsies

Prevalence and clinical findings of migraine and tension-type headache in adolescents

Background: The majority of previous studies on headache in children and adolescents have focused mainly on migraine. There is a paucity of population-based studies investigating the prevalence of tension-type headache (TTH). The objectives of the present study were to estimate the prevalence of migraine and TTH in adolescents using the 2004 International Headache Society (IHS) criteria and to determine the sociodemographic and clinical differences between the migraine and TTH

Inversion of chromosome 15 in a family with benign familial infantile seizures

Recent molecular cytogenetic studies have elucidated the origin and nature of extra structurally abnormal chromosomes or small supernumerary chromosomes, which are often associated with developmental delay and malformations. The most common of the heterogeneous group of the extra structurally abnormal chromosomes is the inv dup (15), whose presence results in tetrasomy 15p and partial tetrasomy 15q. In the literature, benign familial infantile seizures locus have been found in 19q12-13.1 ve 16p12-q12 chromosomes. In this study, we descript a family which have benign familial infantile seizures accompanied by 15 q21.1, q26.2 inversion, because it has not been declareded before

Benefits of ketogenic diet in a pediatric patient with Ehlers-Danlos syndrome and STXBP1-related epileptic encephalopathy

Purpose/Ai

A case of Wolf-Hirschhorn syndrome progressing to resistant epilepsy

Wolf-Hirschhorn syndrome is defined by a collection of core characteristics that include mental retardation, epilepsy, growth delay, and craniofacial dysgenesis. The disorder is caused by subtelomeric deletions in the short arm of chromosome 4. The syndrome, as described in the literature, may have a progression to resistant seizures and status epilepticus, which may then exhibit specific electroencephalographic findings. This study investigates a 3-year-old girl presenting with the classic phenotype for Wolf-Hirschhorn syndrome, confirmed by fluorescence in situ hybridization. Here we describe and discuss this patient, who initially presented with myoclonic seizures but then had a progression toward resistant epilepsy, along with electroencephalographic findings specific to Wolf-Hirschhorn syndrome. (c) 2007 by Elsevier Inc. All rights reserved

Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolic brain diseases and review of the literature

The purpose of this study is to evaluate parenchymal diffusion properties and metabolite ratios in affected brain tissues of inherited neurometabolic brain diseases with an overview of the current literature about the diagnostic data of both techniques in childhood inherited metabolic brain diseases. The study group was consisting, 19 patients (15 males, 4 females; mean age, 54 months (4.5 years); age range, 1-171 months (14.25 years)) diagnosed with inherited neurometabolic brain disease. Single- and multivoxel proton MRS was carried out and NAA/Cr, Cho/Cr, mI/Cr, Glx/Cr ratios were calculated. Presence of lactate peak and abnormal different peaks were noted. ADC values were calculated from brain lesions. Results are compared with age and sex matched normal subjects. Elevated NAA/Cr ratio (Canavan disease), galactitol peak (galactosemia) at 3.7 ppm, branched chain amino acids (Maple syrup urine disease-MSUD) at 0.9 ppm were seen on different diseases. In Leigh disease and MSUD restricted diffusion was detected. Different diffusion properties were seen only in one Glutaric aciduria lesions. NAA/Cr ratios and calculated ADC values were significantly different from normal subjects (p<0.05). DWI combined with MRS are complementary methods to routine cranial MRI for evaluating neurometabolic diseases which can give detailed information about neurochemistry of affected brain areas. (C) 2009 Elsevier Ireland Ltd. All rights reserved

The evaluation of ventrikular function of newly diagnosed idiopatic generalized epileptic children with tissue Doppler imaging

Objective: Epileptic discharges spread all over central autonomic area, and may alter normal autonomic control over vital cardiac functions. In our study we aimed to evaluate left ventricular diastolic function of the yet untreated patients with newly diagnosed idiopathic generalized epilepsy using tissue Doppler imaging (TDI).& para;& para;Methods: Thirty-one yet untreated patients aged 1 month-18 years who were newly diagnosed as idiopathic generalized epilepsy based on 1981 ILAE classification were included in the study. Control group consisted of age-, and gender-matched 29 healthy children. Transthoracic two-dimensional and Doppler echocardiographic examinations of the patients were performed.& para;& para;Results: Median age of the cases was 7.42 (3.52) years. There were not significant differences between patients and control groups as assessed with conventional echocardiographic variables (p>0.05). Right ventricular isovolumic contraction times (IVCTs) of the case and control groups were estimated with tissue Doppler imaging, and shorter IVCTs were found in the patient group. A statistically significant difference existed between the patient, and the control groups in terms of IVCT values. Differences between the measurements of systolic peak velocities of the medial wall of the annulus, and also between IVCT values (p<0.05) were significant in case and control groups. More comprehensive studies should be conducted to interpret lower IVCT values regarding systolic dysfunction.& para;& para;Conclusion: In conclusion, diastolic dysfunction was not detected in the patient group, we think that diastolic functions of our patients may not yet altered because of smaller mean age of our newly diagnosed patients with longer time intervals between seizures. Therefore more comprehensive, and long-term studies with greater number of drug- resistant epileptic children should be conducted to show the effect of epilepsy on diastolic function in children

Evaluation of the relationship between migraine disorder and oral comorbidities: multicenter randomized clinical trial

WOS: 000374327500019PubMed ID: 27513246Background/aim: Although migraine is a common disorder, there is a lack of research investigating the possible relationship between migraine and oral health. The aim of the present study was to explore the relationship between temporomandibular disorders, bruxism, dental caries, periodontal status, and migraine disorder in a multicenter, parallel, case-controlled clinical study. Materials and methods: A total of 2001 participants were divided into two groups: migraineurs (nm = 998) and nonmigraineurs (nh = 1003). International Headache Society's Second Edition of International Classification of Headache Disorders and modified Migraine Disability Assessment surveys were administered to evaluate the level of migraine; a pretreatment questionnaire and the World Health Organization oral health assessment form were used to determine the oral comorbidities and their possible effects on DMFT index, gingival plaque index, existence of temporomandibular disorders, bruxism, and consistency of daily oral hygiene habits. Results: The mean age was 39.6 +/- 10.5 years. Female patients seemed to experience migraine attacks more than male patients (64%). The frequency of gastroesophageal reflux was higher in migraineurs in comparison with nonmigraineurs (47%) and tooth wear and abrasion also seemed more frequent (76%). DMFT and plaque index scores showed significant differences for both groups. Conclusion: There is a strong relationship between migraine and oral health status. The existence of reflux in addition to migraine leads to higher dental problems

Childhood headaches and brain magnetic resonance imaging findings

Background: Headaches are common in children and brain magnetic resonance imaging (MRI) studies are widely used in everyday clinical practice because of increasing demands by parents