Mucolipidosis III and Bardet-Biedl syndrome in the same family: diagnostic pitfalls.

abstract：:Continuous and simultaneous registration of electroencephalogram (EEG) and heart rate (HR) pattern in preterm infants can give information about the functioning of central nervous system and the integrity of the autonomic nervous system. The developmental and behavioural state determine the pattern of EEG activity. A ...

journal_title：Brain & development

authors： Pfurtscheller K,Müller-Putz GR,Urlesberger B,Dax J,Müller W,Pfurtscheller G

更新日期：2005-12-01 00:00:00

abstract：:Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, ...

journal_title：Brain & development

authors： Nozaki F,Kusunoki T,Okamoto N,Yamamoto Y,Miya F,Tsunoda T,Kosaki K,Kumada T,Shibata M,Fujii T

更新日期：2016-08-01 00:00:00

abstract：BACKGROUND:Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired volunta...

journal_title：Brain & development

authors： Dai L,Ding C,Fang F

更新日期：2019-02-01 00:00:00

abstract：:Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT. The patient originally presented with severe developmenta...

journal_title：Brain & development

authors： Kobayashi Y,Ohashi T,Akasaka N,Tohyama J

更新日期：2012-08-01 00:00:00

abstract：BACKGROUND:Multifocal motor neuropathy (MMN) is an acquired immune-mediated form of neuropathy characterized by upper and asymmetric limb weakness without sensory loss. The mean age of onset is 40 years (range, 20-70 years), and childhood-onset MMN is extremely rare. In the present report, we discuss a case of childhoo...

journal_title：Brain & development

authors： Maeda H,Ishii R,Kusunoki S,Chiyonobu T

更新日期：2020-01-01 00:00:00

abstract：:Serial cranial ultrasound examinations were performed through the anterior fontanel to detect and follow the complications of bacterial meningitis in 16 neonates. The final results included normal findings in 9 patients, and abnormal in the other 7 cases. Among the latter, 5 patients with hydrocephalus were sequential...

journal_title：Brain & development

authors： Hung KL

更新日期：1986-01-01 00:00:00

abstract：:Mutations in the methyl-CpG-binding protein 2 (MECP2) gene located on Xq28, cause Rett syndrome (RTT) in female patients. Meanwhile, nonmosaic MECP2 mutations unknown in girls have been found in an increasing number of male patients with a normal 46, XY karyotype. They can cause a broad spectrum of neurodevelopmental ...

journal_title：Brain & development

authors： Moog U,Van Roozendaal K,Smeets E,Tserpelis D,Devriendt K,Buggenhout GV,Frijns JP,Schrander-Stumpel C

更新日期：2006-06-01 00:00:00

abstract：:Clobazam was added to the previous antiepileptic drug therapy of 90 children suffering from drug resistant epilepsy. Ten patients became seizure free, although four of these later developed tolerance. Thirty-three patients experienced a decrease in seizure frequency, and 24 of these, too, developed tolerance. Forty-fo...

journal_title：Brain & development

authors： Bardy AH,Seppälä T,Salokorpi T,Granström ML,Santavuori P

更新日期：1991-05-01 00:00:00

abstract：:Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients ...

journal_title：Brain & development

authors： Sahin Y,Güngör O,Ayaz A,Güngör G,Sahin B,Yaykasli K,Ceylaner S

更新日期：2017-02-01 00:00:00

abstract：:This is the first study to report differences between Japanese children with and without dyslexia in the way string-length and lexicality effects are manifested when reading Japanese kana. These children were asked to read kana words and non-words consisting of either two or five kana characters. The results showed th...

journal_title：Brain & development

authors： Sambai A,Uno A,Kurokawa S,Haruhara N,Kaneko M,Awaya N,Kozuka J,Goto T,Tsutamori E,Nakagawa K,Wydell TN

更新日期：2012-06-01 00:00:00

abstract：:In this report, we reviewed the characteristics of motor development and motor symptoms of Rett Syndrome (RTT) and demarcated the early and pathognomonic motor symptom which correlates to the impairment of the higher cortical function (HCF) assessed by the ability of language. It is suggested that failure of locomotio...

journal_title：Brain & development

authors： Segawa M

更新日期：2001-12-01 00:00:00

abstract：:Germ cell tumors originating in the posterior fossa are very rare. Described herein is a case of primary germ cell tumor (yolk sac tumor) found in the cerebellar vermis. A 5-year-old boy who complained of headache was admitted. CT and MRI revealed a tumor with diffuse enhancement by contrast medium in the right cerebe...

journal_title：Brain & development

authors： Nakase H,Ohnishi H,Touho H,Karasawa J,Tsunoda S

更新日期：1994-09-01 00:00:00

abstract：:Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and ataxia. Diagnosis is based on the finding of low cerebrospinal fluid glucose, in the absence of hypoglycemia, and identification of GL...

journal_title：Brain & development

authors： Veggiotti P,Teutonico F,Alfei E,Nardocci N,Zorzi G,Tagliabue A,De Giorgis V,Balottin U

更新日期：2010-05-01 00:00:00

abstract：PURPOSE:Many factors have been studied as potential predictors of recurrent febrile seizures (FS), however the available data in literature are inconsistent. The aim of the present paper is to determine which factors are responsible for the first and for multiple recurrences of FS, in a large sample of children with a ...

journal_title：Brain & development

authors： Pavlidou E,Tzitiridou M,Kontopoulos E,Panteliadis CP

更新日期：2008-01-01 00:00:00

abstract：:A 14-year-old female had repeated vomiting, headache, abdominal pain, visual field deficit and lethargy at the onset of hypertensive encephalopathy. Cerebrospinal fluid (CSF) test revealed a high level of IgG and protein. MRI demonstrated no supratentorial cerebral lesions but hyperintense lesions were observed from t...

journal_title：Brain & development

authors： Nagato M,Takahashi Y,Yoshioka M,Nambu M

更新日期：2010-08-01 00:00:00

abstract：:Serial polygraphic recordings of two to three hours duration were made in five full-term newborns with trisomy 18 and one full-term newborn with trisomy 13 syndrome. The newborns with 18 trisomy syndrome were poor sleepers with long periods of wakefulness and/or drowsiness. There were no consistent abnormalities in th...

journal_title：Brain & development

authors： Watanabe K,Hara K,Miyazaki S,Iwase K

更新日期：1979-01-01 00:00:00

abstract：:Factors useful to predict seizure frequency and duration of antiepileptic treatment of children with benign partial epilepsy and rolandic spikes were retrospectively evaluated in 72 patients seizure-free for at least 5 years and off antiepileptic drugs for at least 2 years. Three groups were considered: Group I, 11 pa...

journal_title：Brain & development

authors： Ambrosetto G,Giovanardi Rossi P,Tassinari CA

更新日期：1987-01-01 00:00:00

abstract：:The association between measurements of lateral ventricle dilatation determined by serial ultrasound and brain specific creatine-kinase isoenzyme patterns (CK-BB) is studied in 60 very low birth weight preterm neonates of 1,500 g birth weight or 32 weeks gestation or less. The patients were divided into three groups a...

journal_title：Brain & development

authors： Amato M,Hüppi P,Gambon R

更新日期：1992-07-01 00:00:00

abstract：:The abnormalities of intracranial hemodynamics associated with strokelike episodes in MELAS are variable depend on the time phase from the onset of strokelike episodes and on the progression of the dementia state. To clarify the regional cerebral blood flows (rCBF) in the natural course of MELAS is very important to u...

journal_title：Brain & development

authors： Nishioka J,Akita Y,Yatsuga S,Katayama K,Matsuishi T,Ishibashi M,Koga Y

更新日期：2008-02-01 00:00:00

abstract：:Approximately 10% of patients with systemic lupus erythematosus (SLE) develop epileptic seizures. When occurring before the onset of generalized SLE, the seizures are mainly primary generalized. Accordingly, long-term treatment with anti-epileptic drugs may precipitate SLE, or epilepsy and SLE may both occur as manife...

journal_title：Brain & development

authors： Aarli JA

更新日期：1993-01-01 00:00:00

abstract：BACKGROUND:More than 90% of spinal muscular atrophy (SMA) patients show homozygous deletion of SMN1 (survival motor neuron 1). They retain SMN2, a highly homologous gene to SMN1, which may partially compensate for deletion of SMN1. Although the promoter sequences of these two genes are almost identical, a GCC insertion...

journal_title：Brain & development

authors： Harahap NI,Takeuchi A,Yusoff S,Tominaga K,Okinaga T,Kitai Y,Takarada T,Kubo Y,Saito K,Sa'adah N,Nurputra DK,Nishimura N,Saito T,Nishio H

更新日期：2015-08-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder that is caused by loss of the survival motor neuron gene, SMN1. SMA treatment strategies have focused on production of the SMN protein from the almost identical gene, SMN2. Valproic acid (VPA) is a histone deacetylase inhibitor that c...

journal_title：Brain & development

authors： Harahap IS,Saito T,San LP,Sasaki N,Gunadi,Nurputra DK,Yusoff S,Yamamoto T,Morikawa S,Nishimura N,Lee MJ,Takeshima Y,Matsuo M,Nishio H

更新日期：2012-03-01 00:00:00

abstract：:We investigated potential renal functional impairment induced by chronic use of anti-epileptic drugs (AEDs) in 79 epileptic children. They were divided into five groups: valproic acid (VPA) monotherapy where the serum concentration (SC) of VPA was no less than 60 micrograms/ml (VPA [SC > or = 60]) (15 cases), VPA mono...

journal_title：Brain & development

authors： Otsuka T,Sunaga Y,Hikima A

更新日期：1994-11-01 00:00:00

abstract：:Although hypothalamic hamartomas (HHs) have been shown to be intrinsically epileptogenic and to participate in the generation of gelastic seizures, no evidence has been reported regarding its contribution to the pathogenesis of infantile spasms. We describe a male infant with Pallister-Hall syndrome who had a large HH...

journal_title：Brain & development

authors： Wakamoto H,Sumi A,Motoki T,Ohmori H

更新日期：2010-09-01 00:00:00

abstract：:Glutamic acid decarboxylase (GAD) activity in the cerebrospinal fluid (CSF) of normal infants (n:14) and children (n:28) was determined by measuring the amount of 14CO2 released from L-[1-14C]-glutamic acid. The mean GAD activity in CSF of infants and children was 5.2 +/- 2.5 pmol CO2 formed/hr/ml. Dividing these subj...

journal_title：Brain & development

authors： Tada H

更新日期：1983-01-01 00:00:00

abstract：PURPOSE:The study aims to detect the polymorphisms in uridine diphosphate glucuronyl transferase (UGT) 2B7∗2 and investigate the corresponding effects on the blood concentrations of valproic acid (VPA) and carbamazepine (CBZ). METHODS:A chemiluminescence immunoassay analyzer was used to detect the plasma concentration...

journal_title：Brain & development

authors： Zhang H,Zhang W,Li Y,Yan J,Zhang J,Wang B

更新日期：2018-02-01 00:00:00

abstract：:To elucidate the nature of an overabundance of collagen seen on microscopic examination in tuberous sclerous (TS), the hydroxyproline content in tissues and urine was determined. TS tissues of 5 patients were obtained on necropsy or plastic surgery. Urine was collected from 10 patients with TS and 19 controls. Tumors ...

journal_title：Brain & development

authors： Tanaka H,Arima M

更新日期：1981-01-01 00:00:00

abstract：:From the mass screening EEG, 31 primary school children and 17 junior high school (Jr-HS) students with paroxysmal discharge were chosen. An equal number of children with disorganized patterns, including a few borderline ones, and with normal patterns were selected from the same classes. School performance and behavio...

journal_title：Brain & development

authors： Hara H,Tsuchiya S,Maruyama H

更新日期：1983-01-01 00:00:00

abstract：:Cerebral blood flow was assessed by ultrasound in 12 children with intractable epilepsy who were treated with ACTH. The average maximal blood velocity (A/L) and end-diastolic blood velocity (d) of the internal carotid artery were measured, before, during and after ACTH therapy in each subject. The right and left mean ...

journal_title：Brain & development

authors： Futagi Y,Abe J

更新日期：1985-01-01 00:00:00

abstract：:Neuromyelitis optica (NMO) is an inflammatory demyelinating disease with a poor prognosis that is characterized by inflammatory optic neuritis and myelitis. Although it is commonly misdiagnosed as multiple sclerosis (MS), distinguishing NMO from MS is important, as therapeutic approaches approved for MS are ineffectiv...

journal_title：Brain & development

authors： Numata Y,Uematsu M,Suzuki S,Miyabayashi T,Oyama T,Kubota S,Itoh T,Hino-Fukuyo N,Takahashi T,Kure S

更新日期：2015-01-01 00:00:00