Late detection of neuroblastoma in a patient with prolonged cerebellar ataxia without opsoclonus.

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：:Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in ALDH18A1. Autosomal recessive ...

journal_title：Neuropediatrics

authors： Angelini C,Thibaud M,Aladjidi N,Bessou P,Cabasson S,Colson C,Espil-Taris C,Goizet C,Husson M,Morice-Picard F,De Sandre-Giovannoli A,Pédespan JM

更新日期：2020-08-01 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：:Autosomal recessive microcephaly has long been recognized in association with normal early motor development and mild to severe mental retardation. We report three sibling pairs with microcephaly and severe neurological impairment. These cases and other sibling pairs reported in the literature illustrate that microcep...

journal_title：Neuropediatrics

authors： Scheffer IE,Baraitser M,Wilson J,Godfrey C,Brett EM

更新日期：1992-02-01 00:00:00

abstract：:Narcolepsy type 1 (NT1) is a rare central disorder of hypersomnolence characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, hallucinations, and fragmented nocturnal sleep usually arising in adolescence or young adulthood. Recently, the childhood NT1 diagnoses have increased for improved disease aw...

journal_title：Neuropediatrics

authors： Rocca FL,Pizza F,Ricci E,Plazzi G

更新日期：2015-06-01 00:00:00

abstract：:The authors report at adult age 7 patients (6 men, one woman) with the syndrome of "acquired aphasia-epilepsy", 6 of which had been previously studied as children. The results of the language, neuropsychological and socio-educational evaluation detailed many years after the onset of the aphasia are the subject of this...

journal_title：Neuropediatrics

authors： Deonna T,Peter C,Ziegler AL

更新日期：1989-08-01 00:00:00

abstract：:Electroencephalographic (EEG) and brainstem auditory evoked response (BAER) findings have not been previously described and correlated with the pathological findings in an autopsied case of neonatal nonketotic hyperglycinemia (NKH). A 38 week gestation male infant presented within two hours of age with stimulus-evoked...

journal_title：Neuropediatrics

authors： Scher MS,Bergman I,Ahdab-Barmada M,Fria T

更新日期：1986-08-01 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：:We report antiphospholipid antibody positivity in three of a consecutive series of 23 children presenting partial epileptic seizures. There was no clinical or serological evidence of systemic lupus erythematosus or other connective-tissue disease. Neither computed tomography nor magnetic resonance imaging revealed isc...

journal_title：Neuropediatrics

authors： Angelini L,Granata T,Zibordi F,Binelli S,Zorzi G,Besana C

更新日期：1998-10-01 00:00:00

abstract：:The response of kidney and bone to parathyroid extract (PTE) was investigated in 8 epileptic children on long-term treatment with primidone in combination with phenytoin or other anticonvulsant drugs. The results indicate a dissociation between normal and cyclic AMP excretion and disturbed renal handling of phosphate ...

journal_title：Neuropediatrics

authors： Kruse K,Kracht U,Göpfert G

更新日期：1982-02-01 00:00:00

abstract：:The neuronal ceroid-lipofuscinoses (NCL) are a group of inherited progressive encephalopathies. Striking histomorphological feature of the NCL is the accumulation of storage material within the lysosomes in neural and extraneural cells. The basic underlying defect causing the disease is not known. Presupposing a distu...

journal_title：Neuropediatrics

authors： Kieseier BC,Wisniewski KE,Schuller-Levis G,Park E,Goebel HH

更新日期：1996-08-01 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：:Data coming from a prospective multidisciplinary study with repeated examinations of children with fetal alcohol syndrome (FAS) are reported. These patients underwent pediatric, neurological and psychiatric assessment, EEG-recordings and psychological testing. After a period of 3-4 years various subgroups of these chi...

journal_title：Neuropediatrics

authors： Spohr HL,Steinhausen HC

更新日期：1987-02-01 00:00:00

abstract：:Magnetic resonance (MR) imaging has an important role in the diagnosis of metachromatic leukodystrophy (MLD). We report diffusion-weighted MR imaging (DWI) findings of four cases of juvenile type MLD. DWI showed restricted diffusion lines with greater areas of increased diffusion in three patients and widespread incre...

journal_title：Neuropediatrics

authors： Oguz KK,Anlar B,Senbil N,Cila A

更新日期：2004-10-01 00:00:00

abstract：:While prognostic information for Dandy-Walker syndrome and non-progressive cerebellar ataxia/cerebellar hypoplasia is available, surprisingly scant literature reports are found for space-occupying posterior fossa arachnoid cysts (PFAC). We describe the outcome of patients with symptomatic PFAC shunted as infants. Only...

journal_title：Neuropediatrics

authors： Boltshauser E,Martin F,Altermatt S

更新日期：2002-06-01 00:00:00

abstract：:Chorea Huntington (CH) is a dominantly inherited, neurodegenerative disease usually with adult onset. The course of CH is characterized by movement disturbances, psychiatric symptoms and it may lead to dementia. Typically death occurs after 10 to 20 years of CH duration. Invariably, the underlying mutation concerns an...

journal_title：Neuropediatrics

authors： Gencik M,Hammans C,Strehl H,Wagner N,Epplen JT

更新日期：2002-04-01 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：:The carboxyl terminal of the predicted amino acid sequence of the Batten disease CLN3 gene protein is CQLS. This motif is expected to be a site for farnesylation at the cysteine residue. In order to determine whether this is indeed farnesylated we have carried out the in-vitro prenylation of tetrapeptides CVLS, CAIL a...

journal_title：Neuropediatrics

authors： Pullarkat RK,Morris GN

更新日期：1997-02-01 00:00:00

abstract：INTRODUCTION:Cerebrovascular changes are rarely discussed in patients with hemimegalencephaly. These alterations have previously been associated with epileptical activity. CASE:We report the case of a 36-week gestation neonate presenting with total right hemimegalencephaly, as demonstrated by a magnetic resonance imag...

journal_title：Neuropediatrics

authors： Wintermark P,Roulet-Perez E,Maeder-Ingvar M,Moessinger AC,Gudinchet F,Meuli R

更新日期：2009-04-01 00:00:00

abstract：:At the age of five years a male child started to develop a progressive rigid spine, torsion scoliosis, and flexion contractures of his elbows, knees, hips, and ankles owing to severe proximal and distal muscle weakness. He had three muscle biopsies from three different muscles at ages 7, 11, and 14 years, respectively...

journal_title：Neuropediatrics

authors： Goebel HH,Halbig LE,Goldfarb L,Schober R,Albani M,Neuen-Jacob E,Voit T

更新日期：2001-08-01 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：:Clinico-radiologic correlations, using CT, were studied in 29 patients with ataxic cerebral palsy. The scans were normal or only slightly abnormal in 38%, posterior fossa abnormalities occurred in 28%, and 55% had obvious cerebral abnormalities which always involved the parietal lobes. There were only two cases where ...

journal_title：Neuropediatrics

authors： Miller G,Cala LA

更新日期：1989-05-01 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：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：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：: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：:Twenty-four hour continuous pneumocardiogram recordings were obtained on 250 healthy, normal infants in a hospital nursery on the first to third days of life. 73% of the infants showed no apneic episodes greater than 15 seconds in duration. 5% demonstrated longest apneic episodes greater than 20 seconds in duration wi...

journal_title：Neuropediatrics

authors： Stein IM,Fallon M,Merisalo RL,Kennedy JL Jr

更新日期：1983-05-01 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：:Syringomyelia is an etiologically diverse affliction caused by disturbance of normal cerebrospinal fluid flow dynamics. An evaluation by comprehensive imaging, using advanced three-dimensional constructive interference in steady state and four-dimensional phase contrast imaging techniques, should be focused on finding...

journal_title：Neuropediatrics

authors： Vandertop WP

更新日期：2014-02-01 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