Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings.

abstract：:134 preterm infants were investigated in their ability to coordinate sucking and breathing. Of those infants who did not coordinate, 79% showed immature cardiorespiratory control whereas of those who suck and breathe simultaneously only 12% had poor cardiorespiratory control. This finding suggests that in infants with...

journal_title：Neuropediatrics

authors： Daniels H,Devlieger H,Minami T,Eggermont E,Casaer P

更新日期：1990-02-01 00:00:00

abstract：:Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and seizures. Three patients, of 20 months to 12 years of age, were followed up for 3 years both clinically and by using brain ma...

journal_title：Neuropediatrics

authors： Barone R,Nigro F,Triulzi F,Musumeci S,Fiumara A,Pavone L

更新日期：1999-10-01 00:00:00

abstract：:We report on the complication of gastroesophageal reflux (GER) in four patients with lower brainstem dysfunction. These patients suffered from perinatal asphyxia, cerebellar hemorrhage, or congenital dysphagia of unknown origin and showed facial nerve palsy, inspiratory stridor due to vocal cord paralysis, central sle...

journal_title：Neuropediatrics

authors： Saito Y,Kawashima Y,Kondo A,Chikumaru Y,Matsui A,Nagata I,Ohno K

更新日期：2006-06-01 00:00:00

abstract：:Juvenile myasthenia gravis (JMG) is an autoimmune disorder of neuromuscular transmission caused by production of antibodies against components of the postsynaptic membrane of the neuromuscular junction. Ethnicity has influence on incidence, clinical presentation, and the course of the disease. The patients present wit...

journal_title：Neuropediatrics

authors： Della Marina A,Trippe H,Lutz S,Schara U

更新日期：2014-04-01 00:00:00

abstract：BACKGROUND:Sleep is known to improve the yield of EEG recording in children but is often difficult to obtain. In order to evaluate the efficacy and to test the practicability of oral melatonin in obtaining sleep for EEG recording, we studied its use in 70 children. RESULTS:Sleep was obtained in 56 children (80%) with ...

journal_title：Neuropediatrics

authors： Eisermann M,Kaminska A,Berdougo B,Brunet ML

更新日期：2010-08-01 00:00:00

abstract：:Four cases of hypomelanosis of Ito with typical skin depigmentation and various noncutaneous findings were described. This neurocutaneous syndrome has been well documented by clinical investigations, especially computerized tomography and magnetic resonance imaging of the brain. The literature is surveyed giving speci...

journal_title：Neuropediatrics

authors： Griebel V,Krägeloh-Mann I,Michaelis R

更新日期：1989-11-01 00:00:00

abstract：:In order to examine if specific findings from CT correlate with specific clinical or neurological findings, 30 children, 5 to 16 years old, born at term, affected by congenital hemiparesis without intellectual impairment, were submitted to neurofunctional and psychological assessment and examined by CT. 28 of the 30 c...

journal_title：Neuropediatrics

authors： Molteni B,Oleari G,Fedrizzi E,Bracchi M

更新日期：1987-05-01 00:00:00

abstract：:Mucolipidosis IV, a severe neurologic and ophthalmologic progressive disorder has a clinical range of onset between early childhood and adolescence entailing clinically severe, moderate, and mild forms, all of them majorly affecting Ashkenazi Jewish patients in an autosomal-recessive fashion owing to mutations in the ...

journal_title：Neuropediatrics

authors： Bargal R,Goebel HH,Latta E,Bach G

更新日期：2002-08-01 00:00:00

abstract：:Two distinct disorders with elevated urinary excretion of 2-hydroxyglutaric acid are known: L-2-hydroxyglutaric aciduria and D-2-hydroxyglutaric aciduria. This paper presents clinical and biochemical studies in three patients and unsuccessful prenatal diagnosis in one case with combined D-2- and L-2-hydroxyglutaric ac...

journal_title：Neuropediatrics

authors： Muntau AC,Röschinger W,Merkenschlager A,van der Knaap MS,Jakobs C,Duran M,Hoffmann GF,Roscher AA

更新日期：2000-06-01 00:00:00

abstract：:Rett syndrome affects young girls. The molecular basis is mysterious. One tenable hypothesis can be that the programmed early infantile death of neuronal cells is reprogrammed. The bcl-2 gene on chromosome 22 has been shown to play a role in the apoptosis process. No sequence abnormalities were detected in the bcl-2 g...

journal_title：Neuropediatrics

authors： Anvret M,Zhang ZP,Hagberg B

更新日期：1994-12-01 00:00:00

abstract：:We report here the efficacy of amantadine hydrochloride for two patients with alternating hemiplegia of childhood (AHC) that did not respond to flunarizine. Amantadine was administered to one patient at age one year and seven months and to the other at age 25 years. The frequencies and duration of the hemiplegic attac...

journal_title：Neuropediatrics

authors： Sone K,Oguni H,Katsumori H,Funatsuka M,Tanaka T,Osawa M

更新日期：2000-12-01 00:00:00

abstract：:In a retrospective, non-random study, the effect of supplementary medical treatment (Dexamethasone, barbiturates) was investigated upon the prognosis of severe head injuries. Of 107 children and adolescents up to 16 years of age, 51 were treated with Dexamethasone; 56 received only standard therapy. Evaluation of the ...

journal_title：Neuropediatrics

authors： Kretschmer H

更新日期：1983-08-01 00:00:00

abstract：:Muscular dystrophies are a heterogeneous group of inherited diseases. The natural history of these disorders along with their management have changed mainly due to a better understanding of their pathophysiology, the evolution of standards of care, and new treatment options. Dystrophinopathies include both Duchenne's ...

journal_title：Neuropediatrics

authors： Domingos J,Sarkozy A,Scoto M,Muntoni F

更新日期：2017-08-01 00:00:00

abstract：:The aims of the present study were: to examine the quality of life (QOL) of parents of children with cerebral palsy (CP) and to establish the possible effect of behaviour problems on their QOL. One-hundred children with CP, aged between 4 and 10 years, and both their parents were included in the study. Both parents co...

journal_title：Neuropediatrics

authors： Romeo DM,Cioni M,Distefano A,Battaglia LR,Costanzo L,Ricci D,De Sanctis R,Romeo MG,Mazzone D,Mercuri E

更新日期：2010-06-01 00:00:00

abstract：:Clinical, biochemical and morphological findings in a 16-month-old infant girl with pseudo-neonatal adrenoleukodystrophy are reported. The parents were first cousins and the baby was born at term, small for gestational age. The neonatal period was characterized by convulsions resistant to treatment, generalized, sever...

journal_title：Neuropediatrics

authors： Kyllerman M,Blomstrand S,Månsson JE,Conradi NG,Hindmarsh T

更新日期：1990-11-01 00:00:00

abstract：:Thiamine metabolism dysfunction syndrome type 2 is also known by other terms including: "SCL19A3 gene defect," "biotin-responsive basal ganglia disease" (BBGD), and "biotin-thiamine-responsive basal ganglia disease" (BTBGD). The worldwide incidence and prevalence of this disorder are unknown, but the syndrome has prim...

journal_title：Neuropediatrics

authors： Alfadhel M,Tabarki B

更新日期：2018-04-01 00:00:00

abstract：:The value of sural nerve biopsy in the diagnosis of metachromatic leucodystrophy (MLD) was studied in 9 MLD-patients and 4 other patients with low arylsulphatase A (ASA)-activities in the leucocytes. In 7 patients (5 of them suffering from MLD) adequate interpretation of low ASA-activity was impossible, either because...

journal_title：Neuropediatrics

authors： Vos AJ,Joosten EM,Gabreëls-Festen AA,Gabreëls FJ,Notermans SL,Lamers KJ

更新日期：1982-02-01 00:00:00

abstract：:Leukodystrophies were defined in the 1980s as progressive genetic disorders primarily affecting myelin of the central nervous system. At that time, a limited number of such disorders and no associated gene defects were known. The majority of the leukodystrophy patients remained without a specific diagnosis. In the fol...

journal_title：Neuropediatrics

authors： Kevelam SH,Steenweg ME,Srivastava S,Helman G,Naidu S,Schiffmann R,Blaser S,Vanderver A,Wolf NI,van der Knaap MS

更新日期：2016-12-01 00:00:00

abstract：:Congenital horizontal gaze paralysis is a rare disorder which may be associated with severe scoliosis of early onset. We present the clinical findings of two sisters with this syndrome. The additional finding of a unique pericentric inversion of chromosome 12 is considered to be incidental. Every child with congenital...

journal_title：Neuropediatrics

authors： Steffen H,Rauterberg-Ruland I,Breitbach N,Thomsen M,Kolling GH

更新日期：1998-08-01 00:00:00

abstract：:Hemimegalencephaly, which previously has been associated with a poor clinical course characterized by intractable seizures and severe encephalopathy, was found without these conditions in two children with neurofibromatosis. These children showed relatively similar and favourable prognostic features: no presence of se...

journal_title：Neuropediatrics

authors： Cusmai R,Curatolo P,Mangano S,Cheminal R,Echenne B

更新日期：1990-11-01 00:00:00

abstract：:A family composed of parents and four children is reported. Two brothers presented from early infancy with hypotonia and non-progressive weakness. Muscle biopsy in both revealed numerous typical nemaline rods. The father, suffering from backache, had a slow MNCV of both common peroneal nerves. His muscle revealed vari...

journal_title：Neuropediatrics

authors： Shapira YA,Yarom R,Blank A

更新日期：1981-05-01 00:00:00

abstract：:We investigated two brothers with Scheie syndrome whose only complaint was exercise intolerance. In the quadriceps muscle biopsy of both patients, between the normal muscle fibres an increased number of markedly swollen periodic acid-Schiff-positive fibroblasts were seen. Ultrastructurally, these cells showed an accum...

journal_title：Neuropediatrics

authors： Verrips A,van Engelen BG,ter Laak H,Wesseling P,de Jong J,Gabreëls FJ

更新日期：2001-04-01 00:00:00

abstract：:Congenital myasthenic syndromes (CMS) are rare genetically and clinically heterogeneous disorders characterized by an impaired neuromuscular transmission. Exact prevalence data are not available, approximately 2000 to 3000 patients worldwide have been diagnosed on a molecular level; mutations in 14 different genes are...

journal_title：Neuropediatrics

authors： Schara U,Della Marina A,Abicht A

更新日期：2012-08-01 00:00:00

abstract：:Functional MRI techniques were used to map the position of visual cortex in an awake and a sedated child with congenital anomalies of the posterior hemispheres. In one subject with cortical heterotopia, an activated cortex was found distinct from the structurally abnormal area detected on conventional MRI. In a sedate...

journal_title：Neuropediatrics

authors： Liu GT,Hunter J,Miki A,Fletcher DW,Brown L,Haselgrove JC

更新日期：2000-02-01 00:00:00

abstract：:The present study comprises the neuroradiological examination (computertomography++, magnetic resonance imaging) of 26 children--9 of them were premature, 16 were full-term and in one patient, no details of the pregnancy were known--all suffering from: a) visual disturbance, not caused by ocular disease or afflictions...

journal_title：Neuropediatrics

authors： van Nieuwenhuizen O,Willemse J

更新日期：1988-02-01 00:00:00

abstract：:B cell depletion with the anti-CD20-antibody rituximab is widely considered treatment of choice for long-term immunotherapy in aquaporin-4 (AQP4)-antibody positive neuromyelitis optica spectrum disorder (NMOSD). However, up to 30% of patients suffer from relapses despite complete B cell depletion. In these cases, the ...

journal_title：Neuropediatrics

authors： Breu M,Glatter S,Höftberger R,Freilinger M,Kircher K,Kasprian G,Seidl R,Kornek B

更新日期：2019-06-01 00:00:00

abstract：PURPOSE:We aim to correlate size and shape of corpus callosum with severity of motor and cognitive impairments in children with periventricular leukomalacia (PVL). METHODS:Children with PVL were stratified based on the severity of their motor and cognitive impairments. An age-matched control group was established. The...

journal_title：Neuropediatrics

authors： Davatzikos C,Barzi A,Lawrie T,Hoon AH Jr,Melhem ER

更新日期：2003-06-01 00:00:00

abstract：:Headaches in children and adolescents remain a very common problem with migraine being the most common headache disorder to present to medical attention. The approach to the treatment of migraine in children has consisted of treatment with acute and preventive medications, combined with lifestyle modification and beha...

journal_title：Neuropediatrics

authors： Doll E,Threlkeld B,Graff D,Clemons R,Mittel O,Sowell MK,McDonald M

更新日期：2019-12-01 00:00:00

abstract：PURPOSE:Ketogenic diets (KDs) are used to treat epilepsies resistant to pharmacotherapy or some inborn errors of metabolism. For prolonged anesthesia, use of balanced electrolyte solutions (BESs) supplemented with 0.5% glucose has been advocated to maintain ketosis while preventing hypoglycemia. Unfortunately, there is...

journal_title：Neuropediatrics

authors： Heiderich S,Dennhardt N,Hartmann H,Kluger GJ,Sümpelmann R,Herberhold T

更新日期：2020-12-01 00:00:00

abstract：:The lumbar puncture and cerebrospinal fluid (CSF) opening pressure (OP) in children remains an essential diagnostic test for children with suspected elevated intracranial pressure. Recent prospective data have revised the normative CSF OP values and described how clinical variables such as age, depth of sedation, and ...

journal_title：Neuropediatrics

authors： Avery RA

更新日期：2014-08-01 00:00:00