Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome).

abstract：OBJECTIVE:This article elucidates a clinical and genetic approach to pediatric early-onset chorea in patients with normal neuroimaging. METHODS:We retrospectively studied patients with onset hyperkinetic movement disorders. Only children with onset of chorea in the first 3 years of life were included, those with an ab...

journal_title：Neuropediatrics

authors： Blumkin L,Lerman-Sagie T,Westenberger A,Ben-Pazi H,Zerem A,Yosovich K,Lev D

更新日期：2018-08-01 00:00:00

abstract：:Intracerebral hemorrhage (ICH) is the most frequent complication in postnatal development of preterm infants. The purpose of the present work is the statistical evaluation of seven standard paraclinical parameters and their association to the development of ICH. Clinical records of 265 preterm infants with gestational...

journal_title：Neuropediatrics

authors： Lampe R,Turova V,Botkin N,Eckardt L,Felderhoff-Müser U,Rieger-Fackeldey E,Alves-Pinto A,Kovtanyuk A,Sidorenko I

更新日期：2019-04-01 00:00:00

abstract：:Hashimoto's encephalopathy (HE) is an acute or subacute relapsing disorder usually affecting euthyroid patients with evidence of autoimmune thyroiditis. The neurological manifestations are non-specific, with subacute cognitive impairment, movement disorders, generalized seizures, focal neurological symptoms such as st...

journal_title：Neuropediatrics

authors： Mancardi MM,Fazzini F,Rossi A,Gaggero R

更新日期：2005-06-01 00:00:00

abstract：:A mega-corpus callosum (CC) is not a common manifestation of neurological disease. Previous reports of patients with a constellation of findings including megalencephaly, perisylvian polymicrogyria, distinct facies, psychomotor retardation and mega-corpus callosum were designated as having megalencephaly, mega-corpus ...

journal_title：Neuropediatrics

authors： Pierson TM,Zimmerman RA,Tennekoon GI,Bönnemann CG

更新日期：2008-04-01 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：OBJECTIVE:The aim of this study was to investigate whether modified constraint-induced movement therapy (mCIMT) following a botulinum type A toxin (BoNT-A) injection enhances the effects of the BoNT-A injection into the spastic upper limb of children with hemiplegic cerebral palsy (CP). METHODS:A combined therapy with...

journal_title：Neuropediatrics

authors： Park ES,Rha DW,Lee JD,Yoo JK,Chang WH

更新日期：2009-12-01 00:00:00

abstract：:Two boys developed rhythmic involuntary movements in the extremities on one side of the body after febrile illness. They also showed behavioral disturbances. In both patients, serum antistreptolysin-O and antistreptokinase titers were elevated in acute illness and decreased a few months later. One patient showed tremo...

journal_title：Neuropediatrics

authors： Maegaki Y,Akaboshi S,Inagaki M,Takeshita K

更新日期：2000-04-01 00:00:00

abstract：:We report on a child with Chudley-McCullough syndrome and re-evaluate the spectrum of imaging findings (in 15 previously reported patients) which appear to be variable and, to some extent, ambiguous in the literature. Magnetic resonance imaging of the brain revealed asymmetric colpocephaly with agenesis of the spleniu...

journal_title：Neuropediatrics

authors： Kau T,Veraguth D,Schiegl H,Scheer I,Boltshauser E

更新日期：2012-02-01 00:00:00

abstract：:Epidermal nevus syndrome (ENS) is a congenital neurocutaneous disorder characterized by linear nevus with a significant involvement of the nervous, ophthalmological and skeletal systems. Clinical manifestations of ENS include neurological features such as mental retardation, seizures, and movement disorders which are ...

journal_title：Neuropediatrics

authors： Mall V,Heinen F,Uhl M,Wellens E,Korinthenberg R

更新日期：2000-08-01 00:00:00

abstract：:We report the management of refractory status epilepticus (SE) by using continuous intravenous infusions of lidocaine in a previously healthy 15-year-old girl with a "catastrophic encephalopathy" in whom a diagnosis of febrile infection-related epilepsy syndrome was supposed. One week after a banal pharyngitis and fev...

journal_title：Neuropediatrics

authors： Capizzi G,Vittorini R,Torta F,Davico C,Rainò E,Conio A,Longobardo A,Briatore E,Podestà B,Calzolari S

更新日期：2015-02-01 00:00:00

abstract：:A newborn with multiple congenital contractures (MCC) or arthrogryposis multiplex congenita and a leukodystrophy is described. The clinical features and neurophysiological studies suggested a disorder primarily involving the central white matter. The diagnosis of connatal Pelizaeus-Merzbacher disease was made post mor...

journal_title：Neuropediatrics

authors： Novotny EJ Jr

更新日期：1988-11-01 00:00:00

abstract：:The aim of this study was to clarify the significance of positive rolandic sharp waves (PRS) in preterm infants with periventricular leukomalacia (PVL) and their relation to background electroencephalographic (EEG) abnormalities. We retrospectively evaluated EEG findings of 93 preterm infants; 31 infants in the PVL gr...

journal_title：Neuropediatrics

authors： Okumura A,Hayakawa F,Kato T,Kuno K,Watanabe K

更新日期：1999-12-01 00:00:00

abstract：:Primary degeneration of the granular layer of the cerebellum is an autosomal recessive disorder exhibiting characteristic clinical features: hypotonia, strabismus, delayed motor development, nonprogressive ataxia, delayed language development with dysarthria and mental retardation. We studied fourteen children, seven ...

journal_title：Neuropediatrics

authors： Pascual-Castroviejo I,Gutierrez M,Morales C,Gonzalez-Mediero I,Martínez-Bermejo A,Pascual-Pascual SI

更新日期：1994-08-01 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：:A newborn female born at term was admitted at 28 hours for seizures and generalized hypotonia. Cerebral ultrasound showed a right temporal echogenic lesion confirmed on MRI and thought to be secondary to thrombosis of the vein of Labbé. The EEG showed epileptic discharges over the right temporal region. Extensive thro...

journal_title：Neuropediatrics

authors： Beretta L,Hauschild M,Jeannet PY,Addor MC,Maeder P,Truttmann AC

更新日期：2007-08-01 00:00:00

abstract：:Over the past few years there has been increasing awareness of the association of congenital choanal atresia (CCA) with other congenital defects, including brain abnormalities. We obtained CT scans of the brain in twenty-three consecutive patients with CCA (10 boys and 13 girls) to determine the prevalence and the sco...

journal_title：Neuropediatrics

authors： Rejjal A,Alaiyan S,Coates R,Abuzeid M

更新日期：1994-04-01 00:00:00

abstract：:In order to determine the relationship between visual functions and neonatal cerebral ultrasound, neurological examinations and cognitive development, a prospective longitudinal study was conducted in 69 high-risk very-low-birthweight children. Visual development was studied at 1 and 2.6 years of corrected age by asse...

journal_title：Neuropediatrics

authors： Weisglas-Kuperus N,Heersema DJ,Baerts W,Fetter WP,Smrkovsky M,van Hof-van Duin J,Sauer PJ

更新日期：1993-06-01 00:00:00

abstract：BACKGROUND:Glutaryl-CoA dehydrogenase deficiency (GDD) is a recessively inherited neurometabolic disorder associated with encephalopathic crises and severe extrapyramidal symptoms. Treatment regimens including glucose and electrolyte infusions during acute illnesses, oral carnitine supplementation and/or a low-protein ...

journal_title：Neuropediatrics

authors： Hoffmann GF,Athanassopoulos S,Burlina AB,Duran M,de Klerk JB,Lehnert W,Leonard JV,Monavari AA,Müller E,Muntau AC,Naughten ER,Plecko-Starting B,Superti-Furga A,Zschocke J,Christensen E

更新日期：1996-06-01 00:00:00

abstract：PURPOSE:This study was aimed to assess the accurate incidence of renal stones in severely disabled children treated with topiramate (TPM). METHOD:We reviewed the medical records of severely disabled children with epilepsy under 15 years old who underwent radiological examinations to investigate urinary stones. The stu...

journal_title：Neuropediatrics

authors： Ishikawa N,Tani H,Kobayashi Y,Kato A,Kobayashi M

更新日期：2019-06-01 00:00:00

abstract：:A longitudinal prospective follow-up study looking at the correlation between haemorrhagic-ischaemic lesions on neonatal cranial ultrasound (US) and the development of cerebral visual impairment (CVI) in infancy resulted in the detection of nine infants with severe visual impairment, which was not due to opthalmologic...

journal_title：Neuropediatrics

authors： Eken P,de Vries LS,van Nieuwenhuizen O,Schalij-Delfos NE,Reits D,Spekreijse H

更新日期：1996-02-01 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 1-year and 11-month-old female infant with bilateral lesions of the thalamus, basal ganglia, cerebellar and brainstem disease died from heart failure 9 days after being administered a measles vaccination. She had a high fever, hypocarnitinemic and non-ketotic hypoglycemia, serum levels of total carnitine 7.4 micromo...

journal_title：Neuropediatrics

authors： Okanari K,Takahashi M,Maeda T,Sato K,Suenobu S,Izumi T

更新日期：2007-12-01 00:00:00

abstract：:We report a newborn with exaggerated startle reactions and stiffness of neonatal onset, the prototypical signs of hyperekplexia. Startle and flexor spasms, leading to apnoea, did not respond to treatment with clonazepam but did partially to sodium valproate. Molecular analysis of GLRA1 revealed no mutations. The incid...

journal_title：Neuropediatrics

authors： Macaya A,Brunso L,Fernández-Castillo N,Arranz JA,Ginjaar HB,Cuenca-León E,Corominas R,Roig M,Cormand B

更新日期：2005-12-01 00:00:00

abstract：:We describe 6 unrelated patients affected by infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) with prolonged survival upon mechanical ventilation (4.5-11 years), which has not been reported before. Biallelic mutations in the IGHMBP2 gene proved the diagnosis of SMARD1 in all patients. Diseas...

journal_title：Neuropediatrics

authors： Rudnik-Schöneborn S,Stolz P,Varon R,Grohmann K,Schächtele M,Ketelsen UP,Stavrou D,Kurz H,Hübner C,Zerres K

更新日期：2004-06-01 00:00:00

abstract：:We describe a rare case of diffuse leptomeningeal oligodendrogliomatosis associated with the human herpes virus 6 variant A (HHV-6 A). A 2-year-old boy presented with progressive neurological symptoms and hydrocephalus. The patient had a VP shunt placement but did not fully recover. HHV-6 A was detected in both CSF an...

journal_title：Neuropediatrics

authors： Stödberg T,Deniz Y,Esteitie N,Jacobsson B,Mousavi-Jazi M,Dahl H,Zweygberg Wirgart B,Grillner L,Linde A

更新日期：2002-10-01 00:00:00

abstract：:The morphological development of the brainstem was studied by means of MR imaging. The subjects were 74 cases ranging in age from 4 months to 16 years, and 6 adult cases. The brainstem development was rapid until 4-6 years of age and thereafter it slowed down. That is the brainstem showed exponential growth (w', t', v...

journal_title：Neuropediatrics

authors： Hashimoto T,Tayama M,Miyazaki M,Kuroda Y

更新日期：1991-08-01 00:00:00

abstract：:Acute herpes simplex encephalitis (HSE) carries significant morbidity and mortality even after early treatment with antiviral agents (7). As well as causing acute neurological disease, Herpes viruses are associated with relapsing--remitting (Varicella--Zoster, Epstein-Barr) and chronic (Rasmussen encephalitis) disease...

journal_title：Neuropediatrics

authors： Asenbauer B,McEntagart M,King MD,Gallagher P,Burke M,Farrell MA

更新日期：1998-06-01 00:00:00

abstract：:Mutations in the gene for the ganglioside-induced-differentiation-associated-protein 1 on 8q21 were recently reported to cause autosomal recessive Charcot-Marie-Tooth sensorimotor neuropathy. We report a detailed clinical, electrophysiological and genetic study of two young patients harbouring missense GDAP1 mutations...

journal_title：Neuropediatrics

authors： Rougeot C,Chabrier S,Camdessanche JP,Prieur F,d'Anjou MC,Latour P

更新日期：2008-06-01 00:00:00

abstract：:Adenosine kinase (ADK) deficiency (OMIM [online mendelian inheritance in man]: 614300) is an autosomal recessive disorder of adenosine and methionine metabolism, with a unique clinical phenotype, mainly involving the central nervous system and dysmorphic features. Patients usually present early in life with sepsis-lik...

journal_title：Neuropediatrics

authors： Alhusani A,Obaid A,Blom HJ,Wedell A,Alfadhel M

更新日期：2019-02-01 00:00:00

abstract：: ...

journal_title：Neuropediatrics

authors： Forsyth R

更新日期：2018-12-01 00:00:00