Subacute sclerosing panencephalitis in two brothers.

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：:This report describes a patient with Gaucher disease type II who developed severe rhabdomyolysis. We treated him successfully and measured various cytokine and chemokine levels sequentially to elucidate the pathophysiology of rhabdomyolysis. The serum levels of interleukin-6, -8, -10, granulocyte colony-stimulating fa...

journal_title：Neuropediatrics

authors： Wakusawa K,Haginoya K,Ishitobi M,Hino-Fukuyo N,Togashi N,Sato I,Ohura T,Yokoyama H,Kikuchi M,Iinuma K,Tsuchiya S

更新日期：2010-02-01 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：: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：:Two patients who postoperatively developed extensive multiseptated hydrosyringomyelia following surgical repair of a lumbal meningomyelocele are reported. Since MRI has been available, an increasing number of reports showed that MRI is useful in the diagnosis of hydrosyringomyelia. Hydrosyringomyelia can be considered...

journal_title：Neuropediatrics

authors： van Hall MH,Beuls EA,Wilmink JT,Boiten J,Vles JS

更新日期：1992-10-01 00:00:00

abstract：:A Japanese girl showed deterioration in development from the age of 13 months. At the age of 16 months, there were mild spastic diplegia, increase in cerebrospinal fluid protein to 61.5 mg/dl and deficient galactosylceramidase I. Magnetic resonance imaging (MRI) demonstrated a high signal intensity with increased T2 i...

journal_title：Neuropediatrics

authors： Kurokawa T,Chen YJ,Nagata M,Hasuo K,Kobayashi T,Kitaguchi T

更新日期：1987-08-01 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：:Forty-four patients aged from one month to 16 years suffering from arterial stroke were carefully studied for any hereditary and acquired risk factors for stroke. No physiologic anticoagulant deficiency or antiphospholipid syndrome was found. Two patients had mitochondrial disease (MELAS). Six patients had migraineous...

journal_title：Neuropediatrics

authors： Riikonen R,Santavuori P

更新日期：1994-10-01 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：: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：: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：:The phenotypic expression of X-linked adrenoleukodystrophy (X-ALD) ranges from the rapidly progressive childhood cerebral form to the milder adrenomyeloneuropathy (AMN) in adults. It is not possible to predict phenotype by mutation analysis or biochemical assays. This study reports on 372 patients ranging in age from ...

journal_title：Neuropediatrics

authors： Moser HW,Loes DJ,Melhem ER,Raymond GV,Bezman L,Cox CS,Lu SE

更新日期：2000-10-01 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

abstract：:Congenital or acquired disorders of hemostasis can cause thrombotic events in adults as well as in children. Recently, acute neurologic complications such as hemiparesis or transitory ischemic attacks (TIA) have been reported in patients with different disorders of hemostasis. In addition, the interaction between anio...

journal_title：Neuropediatrics

authors： Göbel U

更新日期：1994-02-01 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：:Gene expression in the central nervous system is highly region-specific. We tested the hypothesis that certain developmental biomarkers could be detected in the whole brain or in cortical, subcortical or cerebellar structures. Brain gene expressions of male and female rats at birth, 3 days, and 10 days of age were mea...

journal_title：Neuropediatrics

authors： Torbati D,Totapally BR,Raszynski A,Osborne J,Zyl Lv,Kalomiris S,Wolfsdorf J

更新日期：2008-08-01 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

abstract：:Mitochondrial dysfunction of the energy generating system was suggested in two infants with progressive infantile poliodystrophy characterised by hypotonia, refractory epilepsy, visual impairment, psychomotor retardation, profound brain atrophy, hepatopathy, and increased levels of lactate in blood and cerebrospinal f...

journal_title：Neuropediatrics

authors： Tesarova M,Mayr JA,Wenchich L,Hansikova H,Elleder M,Blahova K,Sperl W,Zeman J

更新日期：2004-08-01 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：:Ataxia with oculomotor apraxia type 2 (AOA2), a neurodegenerative disorder with juvenile to adolescent onset is caused by mutations within the SENATAXIN gene ( SETX). We performed molecular analyses in six patients showing clinically an AOA2 phenotype and moderate to significant elevated serum alpha-fetoprotein levels...

journal_title：Neuropediatrics

authors： Bernard V,Stricker S,Kreuz F,Minnerop M,Gillessen-Kaesbach G,Zühlke C

更新日期：2008-12-01 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：:24 healthy full-term newborns underwent polygraphic recordings of EEG, EMG, EOG, ECG, abdominal and thoracic respiration during day-time-sleep. Transient EEG patterns (rhythmic alpha and beta activity, spikes/sharp waves and frontal sharp transients) were visually evaluated and quantified. Rhythmic alpha activity is n...

journal_title：Neuropediatrics

authors： Statz A,Dumermuth G,Mieth D,Duc G

更新日期：1982-08-01 00:00:00

abstract：:The effects of malnutrition on conduction in peripheral and central somatosensory pathways in humans, as measured by short-latency somatosensory evoked potentials (SEPs) have not been previously reported. A group of 28 children with kwashiorkor were compared to a control group of 35 children, aged 6-36 months. The mal...

journal_title：Neuropediatrics

authors： Bartel PR,Conradie JM,Robinson E,Prinsloo JG,Becker P

更新日期：1989-02-01 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：: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：: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 number of frequently prescribed gastrointestinal drugs can cause movement disorders in children, as well as in adults. In our centre for paediatric neurology, we saw a 3-year-old girl with abnormal movements mostly of the legs with an inner restlessness (akathisia) while using cisapride. Another patient, a 17-year-o...

journal_title：Neuropediatrics

authors： Elzinga-Huttenga J,Hekster Y,Bijl A,Rotteveel J

更新日期：2006-04-01 00:00:00

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：: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