Abstract：
:Since 1988, we have diagnosed 6 cases of hereditary progressive dystonia with marked diurnal fluctuation (HPD) in Taiwan. All cases presented with clinical features similar to those described by Segawa. They consisted of four sporadic and two familial cases. The age at onset ranged from 18 months to 8 years. There is a female predominance of 4:2. All of them showed mild postural tremor and postural dystonia manifested initially by flexion-inversion of a foot. However, unlike Segawa's description, side preference to the right (4:2) was noticed. Neck and axial muscles were not or were minimally involved, except a case presenting with retrocollis and tilting of the neck. These symptoms showed remarkable diurnal fluctuation which became aggravated towards the evening and alleviated in the morning or after rest. Response to L-dopa was dramatic, independent of the duration of illness, and no adverse effect of L-dopa has been observed. Our experience suggested that 10 mg/kg/day of L-dopa may be an optimally effective dose for treatment of patients with HPD. Neurophysiological, neuroradiological and biochemical studies were all normal except in one case who showed prolonged somatosensory potential latencies and white matter changes on MRI. Change of dopamine and its metabolites in CSF, plasma and urine had been investigated in one case.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Wang PJ,Ko YM,Young C,Hwu WL,Shen YZdoi
10.1016/0387-7604(94)90048-5subject
Has Abstractpub_date
1994-03-01 00:00:00pages
126-31issue
2eissn
0387-7604issn
1872-7131pii
0387-7604(94)90048-5journal_volume
16pub_type
杂志文章abstract：:Spasms are a form of epileptic seizure typical of infancy. From a clinical point of view, the child presents a flexor-extensor movement involving the trunk and limbs and lasting about 1s. Although asymmetry can be present, the seizure involves both sides of the body. The ictal discharge most frequently associated with...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00284-4
更新日期：2001-11-01 00:00:00
abstract：:Ohtahara syndrome (OS) is characterized by frequent tonic spasms, with or without clustering, of early onset within a few months of life, and a suppression-burst (S-B) pattern in electroencephalography (EEG). Tonic spasms occur in not only waking but also sleeping state in most cases. Partial seizures are observed in ...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00392-8
更新日期：2002-01-01 00:00:00
abstract：:The abnormal patterns of cerebral convolutions range from severe to small anomalies restricted to tertiary gyri and sulci. Lesions within Glial-Pial barrier were found in examined cases with cortical developmental abnormalities. Anomalies and impaired function of vessels penetrating the cortex from meningeal plexus co...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00215-7
更新日期：2001-07-01 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
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90128-7
更新日期：1994-09-01 00:00:00
abstract：:Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Seizures are frequent symptom in inborn errors of metabolism, with no specific seizure types or EEG signature...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2012.11.010
更新日期：2013-10-01 00:00:00
abstract：:We examined the effects of stimulus rates on the somatosensory evoked potential (SEP) amplitudes following median nerve stimulation at the wrist in 42 children. We divided these subjects into five groups according to their age (0-6 months, 7-12 months, 1-3 years, 4-6 years and more than 7 years) and measured the peak-...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(98)00092-8
更新日期：1999-03-01 00:00:00
abstract：:We report the case of a boy with myoclonic epilepsy with ragged-red fibers (MERRF) who had astatic seizures since 2 years of age and later developed ataxia, absence seizures, and myoclonus. Almost homoplasmic A8344G mutation of mitochondrial DNA (m.8344A>G mutation) was detected in lymphocytes. He developed late-onset...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.08.006
更新日期：2013-06-01 00:00:00
abstract：:Bickerstaff's brainstem encephalitis (BBE) is a rare immune-mediated disorder characterized by ophthalmoplegia, ataxia and disturbance of consciousness, which may overlap with Guillain-Barré syndrome (GBS) if there is additional limb weakness. We report a 7-month-old boy presented with ophthalmoplegia followed by a ra...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.02.001
更新日期：2018-06-01 00:00:00
abstract：:A large body of experience has been compiled in different countries, documenting the efficacy of adenocorticotropic hormone (ACTH) for infantile spasms. This is important, because it may serve as a key for understanding this disorder, as well as for designing better medicines. However, significant discrepancies exist ...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00308-4
更新日期：2001-11-01 00:00:00
abstract：BACKGROUND:Congenital hypothyroidism is the most common reason of mental retardation, and normal neurological development can be provided by early and effective treatment. In this present study, it is aimed to compare neurological developments of patients in 6-42 months of age with congenital hypothyroidism and healthy...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.07.003
更新日期：2013-05-01 00:00:00
abstract：:Communicating hydrocephalus was inadvertently induced in a neonate by bilateral jugular vein catheterization. Removal of one catheter resulted in return to normal ventricular size within 14 days. The complication of hydrocephalus from bilateral jugular vein catheterization can be reversed by prompt removal of one cath...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(82)80026-0
更新日期：1982-01-01 00:00:00
abstract：:Molybdenum cofactor deficiency is a rare and devastating disease leading to intractable seizures in the neonatal period. Severe loss of neocortical neurons, gliosis, and cystic necrosis of cerebral white matter resulting in significant cerebral volume loss are the neuropathological findings. The mechanism of cerebral ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00316-3
更新日期：2001-12-01 00:00:00
abstract：:Compared with DMD cases and non-neuromuscular disease controls, FCMD cases showed a reduction of total gangliosides, and an abnormal, immature ganglioside pattern in the cerebral gray and white matter. However, GM4, which is only found in myelin and oligodendroglia, and is a unique quantitative marker of myelination, ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)00114-d
更新日期：1995-01-01 00:00:00
abstract：OBJECTIVE:This study used quantitative analysis to determine whether increased variability in fetal heart rate (FHR) is related to the risk of developing periventricular leukomalacia (PVL). METHODS:We analyzed 124 FHR traces of neonates delivered preterm at 27-33 weeks' gestation to 105 mothers. FHR traces 1-3h before...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.08.008
更新日期：2016-02-01 00:00:00
abstract：:Neuroimaging findings are usually normal in children with benign partial epilepsy in infancy. However, we found a transient reduction of water diffusion in the corpus callosum in two patients with probable benign partial epilepsy in infancy. The patients were admitted to our hospital because of seizure clusters. No de...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.04.010
更新日期：2010-08-01 00:00:00
abstract：:Transmission of information in the brain is of a chemical nature. Neurotransmitters are present at very early stages of brain development, having trophic effects on maturation of target neurons as well as mediating the behavioral repertoire of the immature brain. Many centrally acting psychoactive drugs which are comm...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80058-4
更新日期：1986-01-01 00:00:00
abstract：AIM:Cerebellar injury is a characteristic injury associated with preterm infants. However, the impact of cerebellar injury on the development of preterm infants is unclear. METHOD:We reviewed magnetic resonance image studies of preterm infants with cerebral palsy retrospectively and evaluated the developmental outcome...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.01.009
更新日期：2015-10-01 00:00:00
abstract：:The sixth case of hydranencephaly in a twin is reported. The patient is an 11-year-old girl, and her twin was stillborn and macerated. Intrauterine disseminated intravascular coagulation may be the cause of hydranencephaly in this patient. ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(80)80026-x
更新日期：1980-01-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80060-7
更新日期：1985-01-01 00:00:00
abstract：BACKGROUND:The abducens nucleus directly innervates the lateral rectus muscle and plays a role in controlling conjugate horizontal eye movements. Although the neuronal cytoarchitecture of the abducens nucleus has been extensively investigated in various species of vertebrates, few studies have been undertaken in humans...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.12.009
更新日期：2012-10-01 00:00:00
abstract：:A seven-year-old girl with Krabbe disease presenting palatal myoclonus only when awake is reported. The patient was diagnosed as having Krabbe disease enzymatically at the age of eleven months. She developed rhythmical contractions of the soft palate, pharynx, larynx, lips and tongue at two years. The surface electrom...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80133-1
更新日期：1991-09-01 00:00:00
abstract：:Autism spectrum disorders (ASD) are manifest as impairments in social interaction, language and speech development, and the appearance of repetitive behaviors with restricted interests. Motor impairments in individuals with ASD have been categorized as "associated symptoms". The objective of this study was to describe...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.03.002
更新日期：2007-10-01 00:00:00
abstract：:Coeliac disease, epilepsy and cerebral calcifications (CEC) syndrome is a rare clinical condition. One hundred and seventy-one patients have been reported in the literature. Patients are mostly from Italy, Spain, and Argentina, suggesting a geographically restricted condition. Epilepsy is more frequently characterized...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2004.05.003
更新日期：2005-04-01 00:00:00
abstract：PURPOSE:Fukuyama congenital muscular dystrophy (FCMD) is a congenital muscular dystrophy rarely reported outside Japan. Here, we report three patients with Fukuyama congenital muscular dystrophy (FCMD) in China who shared a similar clinical phenotype and 3-kb insertion in the FKTN 3' untranslated region. METHODS:Immun...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.02.010
更新日期：2015-10-01 00:00:00
abstract：BACKGROUND:Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clini...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.04.008
更新日期：2018-09-01 00:00:00
abstract：:Severe myoclonic epilepsy in infancy (SMEI) is an age-dependent epileptic encephalopathy occurring in the first year of life and is one of the intractable epilepsies. Heterozygous mutations in the voltage-gated sodium channel alpha subunit type1 gene (SCN1A) are frequently identified in patients with SMEI; two-thirds ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.11.005
更新日期：2005-09-01 00:00:00
abstract：:We report the case of an 11-year-old girl who developed slowly progressive atrophy of the left lower extremity. She suffered from mild dilated cardiomyopathy of unknown cause since 4years of age. When she was 7years old, her family noticed that her left extremity was thinner compared to the right one. Computed tomogra...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.11.005
更新日期：2010-04-01 00:00:00
abstract：:The neuropathological examination of the brain of a 4-month-old girl with Aicardi syndrome (infantile spasms, chorioretinal lacunae, psychomotor retardation, agenesis of the corpus callosum and vertebral anomalies) showed agenesis of the corpus callosum, agenesis of the anterior commissure and abnormal orientation of ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80097-3
更新日期：1986-01-01 00:00:00
abstract：:We report a case involving a 15-year-old boy with MELAS (G13513A mutation) who developed several stroke-like episodes in a short period of time. Intravenous administration of l-arginine during the acute phase of the stroke-like episodes reduced symptoms immediately, and oral supplementation of l-arginine successfully ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.07.013
更新日期：2011-06-01 00:00:00
abstract：BACKGROUND:ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity. METHODS:We studied a family with a 13-year old Chinese boy and his two elder brothers presented with infantile epileptic-dyskinetic encephalopathy and clarified the unknow...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.07.003
更新日期：2019-11-01 00:00:00
