Tonic Tics in Gilles de la Tourette Syndrome.

abstract：:The diagnosis of mitochondrial respiratory chain deficiency is usually made by analysis of mitochondrial respiratory chain activity in muscle biopsy. We describe 4 patients in whom the diagnosis was based on mitochondrial respiratory chain deficiency in liver alone. In 3 patients, liver complex IV activity was deficie...

journal_title：Neuropediatrics

authors： Panetta J,Gibson K,Kirby DM,Thorburn DR,Boneh A

更新日期：2005-08-01 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：: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：:Introduction Guillain-Barré syndrome (GBS) is an autoimmune peripheral neuropathy characterized by demyelination and axonal damage. Biallelic functional polymorphisms in the immunoglobulin G Fc receptors (FcγR)-FcγRIIA: H131/R131, FcγRIIIA: V158/F158, and FcγRIIIB: NA1/NA2 affect the affinity of the IgG-FcγR interacti...

journal_title：Neuropediatrics

authors： Mansour LA,Girgis MY,Abdulhay M,ElEinein EI,ElHawary R,Hanna MO

更新日期：2016-06-01 00:00:00

abstract：:We here report a 13-year-old Marfan patient who suffered from severe, medication-resistant, intermittent headache, which was provoked when getting into an upright position and immediately relieved by lying down or after intravenous rehydration. The postural benefit and the sudden relief after intravenous hydration sug...

journal_title：Neuropediatrics

authors： Voermans NC,Dijk KG,Bos MM,Geus-Oei LF,Verrips A,Lindert EJ

更新日期：2009-08-01 00:00:00

abstract：:Biotin-responsive basal ganglia disease is a rare entity of which 10 cases have been reported in the literature. We report a case of biotin-responsive basal ganglia disease with similarities and differences compared to the previously reported cases by Ozand et al. Our case presented much earlier, was milder and respon...

journal_title：Neuropediatrics

authors： El-Hajj TI,Karam PE,Mikati MA

更新日期：2008-10-01 00:00:00

abstract：:Alexander disease (AD) is a leukodystrophy caused by heterozygous mutations in the gene encoding the glial fibrillary acidic protein (GFAP). Currently, de novo heterozygous missense mutations in the GFAP gene are identified in over 95% of patients with AD. However, patients with biopsy-proven AD have been reported in ...

journal_title：Neuropediatrics

authors： Green L,Berry IR,Childs AM,McCullagh H,Jose S,Warren D,Craven I,Camm N,Prescott K,van der Knaap MS,Sheridan E,Livingston JH

更新日期：2018-04-01 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：:Positron Emission Tomography (PET) with 2-deoxy-2 [18F]-fluoro-D-glucose provides a measure of functional brain activity, particularly in the dendritic field. In CLN3 (juvenile neuronal ceroid lipofuscinosis or juvenile Batten disease, with fingerprint inclusions) hypometabolism slowly spreads from calcarine to anteri...

journal_title：Neuropediatrics

authors： Philippart M,da Silva E,Chugani HT

更新日期：1997-02-01 00:00:00

abstract：BACKGROUND:In Rett syndrome the autonomic nervous system is abnormal at various levels, from the central to the peripheral nervous system. A role for serotoninergic dysfunction has been suggested. OBJECTIVES:The aim of our study was to evaluate the relation between cardiac dysautonomia (expressed by means of heart rat...

journal_title：Neuropediatrics

authors： Guideri F,Acampa M,Blardi P,de Lalla A,Zappella M,Hayek Y

更新日期：2004-02-01 00:00:00

abstract：:Bilateral occipital calcifications, occurring in celiac disease, are factors coming under a particular cerebral syndrome, which also includes epilepsy, migraine-like headache, visual troubles and mental deterioration. They seem to arise from hypofolatemia following gluten-induced enteropathy. ...

journal_title：Neuropediatrics

authors： Crosato F,Senter S

更新日期：1992-08-01 00:00:00

abstract：:Neurological examination and magnetic resonance imaging were performed in the neonatal period in 58 full-term infants who presented with hypoxic-ischaemic encephalopathy. The aim of this study was to evaluate the patterns of neurological abnormalities and their correlation to brain lesions on MRI. The prognostic value...

journal_title：Neuropediatrics

authors： Mercuri E,Guzzetta A,Haataja L,Cowan F,Rutherford M,Counsell S,Papadimitriou M,Cioni G,Dubowitz L

更新日期：1999-04-01 00:00:00

abstract：:The occurrence of mitochondrial mutations with primary pathogenic significance for Leber's hereditary optic neuropathy in patients with a multiple sclerosis-like phenotype and the preferential maternal transmission points to an involvement of the mitochondrial genome in conferring increased susceptibility to MS. To ev...

journal_title：Neuropediatrics

authors： Wilichowski E,Ohlenbusch A,Hanefeld F

更新日期：1998-12-01 00:00:00

abstract：:Several de novo variants in the KIF1A gene have been reported to cause a complicated form of hereditary spastic paraplegia. Additional symptoms include cognitive impairment and varying degrees of peripheral neuropathy, epilepsy, decreased visual acuity, and ataxia. We describe four patients (ages 10-18 years), focusin...

journal_title：Neuropediatrics

authors： Van Beusichem AE,Nicolai J,Verhoeven J,Speth L,Coenen M,Willemsen MA,Kamsteeg EJ,Stumpel C,Vermeulen RJ

更新日期：2020-04-01 00:00:00

abstract：OBJECTIVE:This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination. METHODS AND RESULTS:In a cohort of 22 patients with the magnetic resonance imaging (MRI) diagnosis of unclassified hypomyelination a...

journal_title：Neuropediatrics

authors： Cayami FK,La Piana R,van Spaendonk RM,Nickel M,Bley A,Guerrero K,Tran LT,van der Knaap MS,Bernard G,Wolf NI

更新日期：2015-06-01 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：:Intracranial extent and distribution of leptomeningeal angiomatosis, visualized by magnetic resonance imaging (MRI) with Gadolinium-DTPA (Gd-DTPA) enhancement, is demonstrated in four children with Sturge-Weber syndrome (SWS). Aged 7, 9, 11 and 19 months, they presented with cutaneous, neurologic and ocular symptoms a...

journal_title：Neuropediatrics

authors： Sperner J,Schmauser I,Bittner R,Henkes H,Bassir C,Sprung C,Scheffner D,Felix R

更新日期：1990-08-01 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：: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：OBJECTIVE:To investigate the association between blood mercury level and attention-deficit hyperactivity disorder (ADHD) in Chinese children in Hong Kong. METHODS:Fifty-two children with ADHD aged below 18 years diagnosed by DSM IV criteria without perinatal brain insults, mental retardation or neurological deficits w...

journal_title：Neuropediatrics

authors： Cheuk DK,Wong V

更新日期：2006-08-01 00:00:00

abstract：:Hypomelanosis of Ito (HI) (incontinentia pigmenti achromians) with cerebellar atrophy and dysmorphic features is reported in a child. The association of cerebellar anomalies and HI has been previously reported in only four cases. However, since neuroimaging studies are not routinely obtained in these patients the freq...

journal_title：Neuropediatrics

authors： Pini G,Faulkner LB

更新日期：1995-08-01 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：: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：: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：: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：: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：: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：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 14-year-old boy presented with a febrile illness associated with arthritis. Shortly later he developed mononeuritis multiplex. After certain typical skin lesions had developed after two months, the diagnosis cutaneous polyarteritis could be made. The diagnostic features of this benign disease, which may involve peri...

journal_title：Neuropediatrics

authors： Draaisma JM,Fiselier TJ,Mullaart RA

更新日期：1992-02-01 00:00:00

abstract：:Seizures are the most common neurological emergency in the neonates, and this age group has the highest incidence of seizures compared with any other period of life. The author provides a narrative review of recent advances in the genetics of neonatal epilepsies, new neonatal seizure classification system, diagnostics...

journal_title：Neuropediatrics

authors： Samanta D

更新日期：2020-12-08 00:00:00