Follow-up in children with Joubert syndrome.

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：: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：: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：: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：:A 7-year-old boy suffering from X-linked hypogammaglobulinemia and progressive myoclonic encephalopathy is reported. The onset of neurological disturbances is at four years of age with ataxic gait and myoclonic jerks. The EEG shows a progressive slowing of background activity, bilateral diffuse and repetitive, pseudop...

journal_title：Neuropediatrics

authors： Colamaria V,Marradi P,Boner A,Pajno-Ferrara F,Procacci C,Cesaro G,La Selva L,Capovilla G,Fontana E,Dalla Bernardina B

更新日期：1989-11-01 00:00:00

abstract：:A placebo or methylprednisolone (45-60 mg/M2) was administered in a crossover study as a single morning dose on alternate days to fourteen patients who had a familial progressive polyneuropathy that either began or was maximum in the distribution of the peroneal nerves. Neither the patients nor the examining physician...

journal_title：Neuropediatrics

authors： Prensky AL,Dodson WE

更新日期：1984-10-01 00:00:00

abstract：:Four cases of periventricular ischemia without hemorrhage in premature infants are described in which positive rolandic sharp waves (PRSW) were predominant in the electroencephalogram (EEG). These findings suggest the relationship of PRSW to periventricular ischemia rather than to intraventricular hemorrhage, per se, ...

journal_title：Neuropediatrics

authors： Marret S,Parain D,Samson-Dollfus D,Jeannot E,Fessard C

更新日期：1986-11-01 00:00:00

abstract：: ...

journal_title：Neuropediatrics

authors： Dhawan SR,Goswami JN,Suthar R,Dayal D,Vyas S,Singhi PD

更新日期：2019-02-01 00:00:00

abstract：:We present two patients with congenital cervical spinal atrophy who were born at 37 and 33 weeks of gestation. Both patients were unrelated and had no family history of neuromuscular diseases. They presented at birth with arthrogryposis multiplex and symmetrical severe muscle weakness and wasting confined to the upper...

journal_title：Neuropediatrics

authors： Kaiboriboon K,Hayat GR

更新日期：2001-12-01 00:00:00

abstract：:Bilateral loss of median nerve cortical somatosensory evoked potentials (SEP) in comatose patients is reported to be one of the most discriminating predictors of poor outcome. We reviewed 53 children with bilateral absent cortical SEP with respect to their outcome and their follow-up SEP. Brain injury was caused by gl...

journal_title：Neuropediatrics

authors： Wohlrab G,Boltshauser E,Schmitt B

更新日期：2001-10-01 00:00:00

abstract：:The authors report a family in whom three members suffered from congenital hydrocephalus and ocular abnormalities. One of these patients showed along with these symptoms congenital muscular dystrophy. In this child, autopsy disclosed severe cerebral malformations consisting of lissencephaly, arhinencephaly, stenosis o...

journal_title：Neuropediatrics

authors： Pavone L,Gullotta F,Grasso S,Vannucchi C

更新日期：1986-11-01 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：: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：:Mutations of the SCN2A gene have originally been described in association with benign familial neonatal-infantile seizures (BFNIS). Recently, single patients with more severe phenotypes and persisting epileptic encephalopathies have been recognized. We report the case of a girl with severe infantile onset epileptic en...

journal_title：Neuropediatrics

authors： Hackenberg A,Baumer A,Sticht H,Schmitt B,Kroell-Seger J,Wille D,Joset P,Papuc S,Rauch A,Plecko B

更新日期：2014-08-01 00:00:00

abstract：OBJECTIVE:With the identification of mutations in the conserved telomere maintenance component 1 (CTC1) gene as the cause of Coats plus (CP) disease, it has become evident that leukoencephalopathy with calcifications and cysts (LCC) is a distinct genetic entity. PATIENTS AND METHODS:A total of 15 patients with LCC wer...

journal_title：Neuropediatrics

authors： Livingston JH,Mayer J,Jenkinson E,Kasher P,Stivaros S,Berger A,Cordelli DM,Ferreira P,Jefferson R,Kutschke G,Lundberg S,Ounap K,Prabhakar P,Soh C,Stewart H,Stone J,van der Knaap MS,van Esch H,van Mol C,Wakeling E,

更新日期：2014-06-01 00:00:00

abstract：PURPOSE OF THE STUDY:To collect data on both the natural history of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in children and their response to treatment. STUDY DESIGN:Retrospective multicentre study, using standardised criteria for the evaluation of hospital records and semi-quantitative scorin...

journal_title：Neuropediatrics

authors： Korinthenberg R

更新日期：1999-08-01 00:00:00

abstract：:Alpers-Huttenlocher syndrome (AHS) is a very rare autosomal recessive disorder. AHS is caused by homozygous or compound heterozygous mutations in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG, chromosome 15q25). Most patients become symptomatic before the age of 2 years. We report 3 patients who w...

journal_title：Neuropediatrics

authors： Spiegler J,Stefanova I,Hellenbroich Y,Sperner J

更新日期：2011-10-01 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：:We describe a 5.3-year-old girl with autism, mental retardation, hypotonia, marked speech delay, and mild dysmorphic features with a 22q11.2 duplication. Her mother carries the same duplication and presents cleft palate, and normal intelligence. The clinical and behavioural phenotype of this relatively new syndrome is...

journal_title：Neuropediatrics

authors： Lo-Castro A,Galasso C,Cerminara C,El-Malhany N,Benedetti S,Nardone AM,Curatolo P

更新日期：2009-06-01 00:00:00

abstract：:We report a 7-year-old boy with serologic evidence of active Epstein-Barr virus (EBV) infection who developed transient unilateral hypoglossal nerve palsy, with complete recovery within 21 days. This is, to our knowledge, the youngest reported patient with isolated hypoglossal nerve palsy in the context of EBV infecti...

journal_title：Neuropediatrics

authors： Parano E,Giuffrida S,Restivo D,Saponara R,Greco F,Trifiletti RR

更新日期：1998-02-01 00:00:00

abstract：:A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia. The diagnosis was made by postmortem magnetic resonance imaging, indicating the value of such studies to evaluate neuronal migration disorders in patients in whom autopsy cannot be performed. Two earli...

journal_title：Neuropediatrics

authors： Kroon AA,Smit BJ,Barth PG,Hennekam RC

更新日期：1996-10-01 00:00:00

abstract：:Congenital glioblastoma multiforme is a rare tumor of the central nervous system with unique features. The existing evidence on its pathogenesis, genetic and molecular profile, special characteristics, treatment, and prognosis is reviewed. An increased number of antenatal diagnoses and prolonged survival for those ind...

journal_title：Neuropediatrics

authors： Anestis DM,Tsitsopoulos PP,Ble CA,Tsitouras V,Tsonidis CA

更新日期：2017-12-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to evaluate the spectrum of muscle involvement on MRI in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) due to mutations in the lamin A/C gene and to compare it to the pattern found in other conditions with similar phenotype. PATIENTS AND METHODS:Nine pat...

journal_title：Neuropediatrics

authors： Mercuri E,Counsell S,Allsop J,Jungbluth H,Kinali M,Bonne G,Schwartz K,Bydder G,Dubowitz V,Muntoni F

更新日期：2002-02-01 00:00:00

abstract：:This study aimed to investigate the global oxidant/antioxidant status of infants with perinatal asphyxia and its relation to neurological outcomes. A prospective controlled study including term infants with perinatal asphyxia was conducted. Blood samples were obtained from patients and controls at 6-24 h and on the 3r...

journal_title：Neuropediatrics

authors： Aydemir O,Akar M,Uras N,Eras Z,Erdeve O,Oguz SS,Dilmen U

更新日期：2011-12-01 00:00:00

abstract：:Micro syndrome is a rare condition in which congenital cataracts, microphthalmia, and facial dysmorphism are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation. We report on polymicrogyria and motor neuropathy in a patient with Micro syndrome. These findings provide new ins...

journal_title：Neuropediatrics

authors： Nassogne MC,Henrot B,Saint-Martin C,Kadhim H,Dobyns WB,Sébire G

更新日期：2000-08-01 00:00:00

abstract：:Twenty Japanese children with Moyamoya disease were investigated by examining the multimodality evoked potentials (BAEPs, FVEPs and SSEPs). BAEPs were abnormally prolonged wave I-III and wave III-V in each one (10%). FVEPs were abnormal in 6 (30%), included prolonged latencies, reduced amplitudes and poor waveform in ...

journal_title：Neuropediatrics

authors： Chen YJ,Kurokawa T,Kitamoto I,Ueda K

更新日期：1989-02-01 00:00:00

abstract：:Stimulant-associated growth deficits in children with attention deficit hyperactivity disorder (ADHD) have long been a concern. We chose 146 school age children diagnosed with ADHD being treated with methylphenidate (MPH) and 29 drug-free ADHD children, and followed them up for 2-4 years. We recorded the changes in he...

journal_title：Neuropediatrics

authors： Zhang H,Du M,Zhuang S

更新日期：2010-08-01 00:00:00

abstract：AIM:The study aims to describe cerebral MRI in different onset forms of Niemann-Pick type C (NPC). Systematic MRI analyses in this rare lysosomal storage disease are lacking in the infantile and juvenile onset forms. METHODS:Thirty-two cerebral MRI scans from 19 patients with NPC were assessed using a newly establishe...

journal_title：Neuropediatrics

authors： Gburek-Augustat J,Groeschel S,Kern J,Beck-Woedl S,Just J,Harzer K,Stampfer M,Kraegeloh-Mann I

更新日期：2020-02-01 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：: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