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 electromyography showed rhythmical 2 Hz electrical activities. The MRI disclosed markedly attenuated intensity in the midbrain, pons and medulla oblongata on T2-weighted images. Palatal myoclonus was not controlled by carbamazepine in therapeutic doses, but disappeared when the patient was asleep. This is the first reported case of Krabbe disease with palatal myoclonus.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Yamanouchi H,Kasai H,Sakuragawa N,Kurokawa Tdoi
10.1016/s0387-7604(12)80133-1subject
Has Abstractpub_date
1991-09-01 00:00:00pages
355-8issue
5eissn
0387-7604issn
1872-7131pii
S0387-7604(12)80133-1journal_volume
13pub_type
杂志文章abstract：:We determined the efficacy of and tolerability to zonisamide (ZNS) in newly diagnosed patients with infantile spasms. ZNS, 4-20 mg/kg per day, was introduced as an add-on therapy or monotherapy in 27 children with infantile spasms (cryptogenic, 2; symptomatic, 25). The dosage was initially 2-4 mg/kg per day, and then ...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/s0387-7604(98)00080-1
更新日期：1999-04-01 00:00:00
abstract：:Hypoxic ischemic brain can result in cerebral palsy, mental retardation, and learning disabilities in surviving children. The purpose of this study was to elucidate the cerebral blood flow volume in infants complicated with brain damage after the birth. Nine term infants with hypoxic ischemic encephalopathy and 41 nor...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.08.008
更新日期：2008-04-01 00:00:00
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 ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90048-5
更新日期：1994-03-01 00:00:00
abstract：OBJECTIVES:Preterm children with severe dyskinetic cerebral palsy due to bilirubin encephalopathy often suffer from marked generalised hypertonus as they age. We performed a questionnaire survey to investigate patient-reported outcomes of treatments for improving their activities of daily life. METHODS:A mail question...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.01.006
更新日期：2020-04-01 00:00:00
abstract：:We describe a 14-month-old girl who presented with arterial ischemic stroke due to moyamoya disease, unilateral renal agenesis and external iliac artery stenosis. The association of moyamoya disease with renal agenesis and external iliac artery stenosis has not been described before. This report expands the spectrum o...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.09.011
更新日期：2011-08-01 00:00:00
abstract：:A case of a Reye-like syndrome during the course of treatment with VPA was reported. Hyperammonemia and severe liver damage as well as diffuse small droplets in the liver biopsy material were demonstrated. On analysis by gas chromatography/mass spectrometry of the urine immediately after the onset, the metabolites of ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(83)80029-1
更新日期：1983-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(89)80003-8
更新日期：1989-01-01 00:00:00
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pub_type： 临床试验,杂志文章
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更新日期：1990-01-01 00:00:00
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journal_title：Brain & development
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更新日期：2021-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：2012-09-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.10.013
更新日期：2015-08-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(12)80356-1
更新日期：1992-11-01 00:00:00
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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
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journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(94)00123-f
更新日期：1995-03-01 00:00:00
abstract：BACKGROUND:Amplitude-integrated electroencephalogram (aEEG) at <6 h is the best single outcome predictor in term infants with perinatal asphyxia at normothermia. Hypothermia treatment has changed the cutoff values for outcome prediction by using time at onset of normal trace and SWC. Cerebral hemodynamics and oxygenati...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.06.005
更新日期：2012-04-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.12.005
更新日期：2016-06-01 00:00:00
abstract：:MeCP2 is a protein that selectively binds to methylated cytosines through its methyl-CpG-binding domain (MBD) and connects DNA methylation to transcriptional repression. Mutations in MECP2 gene, located in Xq28, have been reported as being the major cause of Rett syndrome and are also associated with some cases of X-l...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.09.012
更新日期：2007-06-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.06.008
更新日期：2006-04-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.04.003
更新日期：2007-11-01 00:00:00
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pub_type： 杂志文章
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更新日期：2002-10-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(79)80029-7
更新日期：1979-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(03)00054-8
更新日期：2003-09-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.09.005
更新日期：2012-06-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.05.004
更新日期：2020-09-01 00:00:00
abstract：:A patient with adrenoleukodystrophy was successfully treated by means of intravenous gammaglobulin injections. The clinical symptoms, especially visual loss, were apparently relieved and no neurological deterioration was observed during a 18-month period following the start of the gammaglobulin treatment. ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80083-x
更新日期：1989-01-01 00:00:00
abstract：:Typical Cockayne syndrome was seen in a boy and his younger sister and these two cases are reported here, and reported cases of the syndrome in Japan are summarized. Both cases (an 11-year-old boy and a 7-year-old girl) had dwarfism, a senile face, retinitis pigmentosa, photosensitivity, and mental retardation. Calciu...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(79)80046-7
更新日期：1979-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.10.004
更新日期：2007-06-01 00:00:00
abstract：:In a patient with holoprosencephaly, partial seizures had various initial ictal symptoms, and ictal EEGs showed epileptogenic foci in the right and left brain. Partial seizures did not culminate in secondary generalized tonic-clonic convulsions. Characteristic malformed structures contribute to the absence of secondar...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00217-0
更新日期：2001-07-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(87)80049-9
更新日期：1987-01-01 00:00:00
