Abstract：
:Herpes simplex encephalitis (HSE) is a widely accepted risk factor for anti N-methyl-d-aspartate receptor (NMDAR) encephalitis. Association of inherited metabolic disease has never been reported in a patient with HSE and anti-NMDAR encephalitis. Herein, we report a case of pediatric HSE complicated by development of anti-NMDAR encephalitis; this patient showed subsequent recurrent, unexplained episodes of encephalopathy associated with hyperammonemia. The patient was diagnosed with lysinuric protein intolerance (LPI), a rare inborn metabolic disorder. Although it would be difficult to make conclusions regarding the casual link of HSE and anti-NMDAR encephalitis with LPI from a single case, there have been many reports that autoimmune diseases and immunologic abnormalities are frequently associated with LPI. Thus, we speculate that LPI may contribute to the development of anti-NMDAR encephalitis following HSE.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Ko JM,Kim WJ,Kim SY,Lee JH,Chae JH,Kim KJ,Lim BCdoi
10.1016/j.braindev.2019.03.013subject
Has Abstractpub_date
2019-08-01 00:00:00pages
634-637issue
7eissn
0387-7604issn
1872-7131pii
S0387-7604(18)30481-9journal_volume
41pub_type
杂志文章abstract：:Actinomycosis is a rare, chronic, suppurative, and slowly progressive granulomatous disease caused by a group of filamentous gram-positive anaerobic bacteria belonging to the normal flora of the oral cavity, gastrointestinal, and genitourinary tracts. It may involve several organs; however, spinal cord compression has...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.08.002
更新日期：2014-08-01 00:00:00
abstract：:Arachnoid cysts comprise approximately 1% of all intracranial space-occupying lesions and usually occur sporadically. We report retrocerebellar arachnoid cysts in two male siblings with mental retardation and undescended testis, suggesting the possibility of a genetic basis for at least some cases of retrocerebellar a...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(02)00061-x
更新日期：2002-08-01 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：:A 5-year-old female case of 5p-syndrome exhibited pontine hypoplasia on magnetic resonance imaging. A high-pitched cry characteristic of 5p-syndrome disappeared after 2 years. 5p-syndrome should be considered as a differential diagnosis for brainstem, especially pontine, hypoplasia. Older patients with brainstem hypop...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.07.003
更新日期：2010-08-01 00:00:00
abstract：:The pathogenesis of Menkes disease seems to be linked to metallothionein which binds to copper trapped within cells in some tissues. The only known therapy for this disease is parenteral administration of copper, but the effects are equivocal. We treated a patient with Menkes disease by giving vitamin C orally. The cl...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80122-4
更新日期：1985-01-01 00:00:00
abstract：:Although a large amount of cholesterol is known to be needed for brain maturation and differentiation, cholesterol metabolism during these periods remains unclear. To elucidate the developmental regulation of cholesterol metabolism in the brain, we investigated the expression of 3-hydroxy-3-methyglutaryl-coenzyme A (H...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(00)00129-7
更新日期：2000-08-01 00:00:00
abstract：:The common factor causing congenital arthrogryposis is lack of fetal movements. This can result from a large number of disorders. They may be neuropathic, affecting the brain, the spinal cord, or the peripheral nerves; they may be abnormalities of the muscles, such as myasthenia gravis, congenital muscular dystrophies...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(98)00037-0
更新日期：1998-10-01 00:00:00
abstract：:Alternating hemiplegia in childhood (AHC) has clinically characteristic features which are easily defined and recognizable. Laboratory investigations were basically normal although they were extensively examined during and between attacks. There is still much debate about its etiology, particularly its relation to mig...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(12)80144-6
更新日期：1992-09-01 00:00:00
abstract：BACKGROUND:The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patien...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.06.004
更新日期：2018-01-01 00:00:00
abstract：:We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation i...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.12.013
更新日期：2018-05-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80117-6
更新日期：1986-01-01 00:00:00
abstract：:Anti-muscle-specific tyrosine kinase antibody (MuSK-Ab) is the second most frequent autoantibody identified in adult patients with myasthenia gravis (MG). Adult patients with MuSK-Ab demonstrate characteristic clinical features but very little information is available for childhood-onset patients with MuSK-positive MG...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.12.014
更新日期：2012-10-01 00:00:00
abstract：:Generalized lymphatic anomaly is a multifocal lymphatic malformation that affects the skin, thoracic viscera, and bones. A 3year-old Japanese boy presented with right facial palsy due to cystic tumors in the ipsilateral petrous bone. Pericardial effusion had been found incidentally and generalized lymphatic anomaly ha...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.12.007
更新日期：2017-05-01 00:00:00
abstract：:MRI of a female patient with xeroderma pigmentosum group A (XP-A) showed progressive cerebral atrophy, but no disease-specific lesion. MR spectroscopy with short TE sequences in the bilateral white matter revealed decreased N-acetyl aspartate (neuro-axonal marker) and increased myo-inositol (astroglial marker) with a ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.06.013
更新日期：2018-11-01 00:00:00
abstract：:From 1971 to 1978, 5,202 schoolchildren from the first to the 9th grade underwent mass screening EEG. Paroxysmal discharges were recognized in 1.7%. Focal paroxysmal discharges appeared most frequently and the temporal, occipital, and central areas were the most common sites. Children having autonomic seizures, psycho...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(81)80054-x
更新日期：1981-01-01 00:00:00
abstract：:We performed screening of beta-galactosidase-deficient fibroblasts for possible chemical chaperone therapy using N-octyl-4-epi-beta-valienamine (NOEV) in patients with GM1-gangliosidosis and Morquio B disease (beta-galactosidosis). Fibroblasts were cultured with NOEV for 4 days and beta-galactosidase activity was meas...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.02.002
更新日期：2006-09-01 00:00:00
abstract：:The occurrence of seizures in patients with fragile X syndrome (Fra-X) is reported. Among the 30 patients, six had epilepsy that was particularly severe and two also showed atypical facial dysmorphism that was different from that seen in classical Fra-X. From the study performed in this series of Fra-X patients the au...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00102-x
更新日期：2002-12-01 00:00:00
abstract：:We investigated the neuroprotective effects of human placental extracts (HPE) and the effects of HPE on recovery of cognitive and behavioral function on hypoxic-ischemic brain injury in the newborn rat. The right common carotid arteries of 7-day-old rats were coagulated, and rats were then exposed to 8% oxygen. Immedi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.01.009
更新日期：2013-01-01 00:00:00
abstract：:Congenital neuromuscular disease with uniform type 1 fibers is a rare form of congenital nonprogressive myopathy. We report a 3-year-old boy with this disease who showed delayed motor developmental milestones and recurrent acute respiratory failure. He obtained head control at 16 months, crawled at 17 months and sat a...
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
abstract：:In the past decade research on childhood epilepsy in our country has progressed in a step-by-step fashion. At first clinical experiences of the diagnosis and treatment of childhood epilepsy and febrile convulsions as to the results of follow-up studies were published. These have helped to overcome the barriers of trad...
journal_title：Brain & development
pub_type： 杂志文章
doi：
更新日期：1988-01-01 00:00:00
abstract：:Ring chromosome 20 [r(20)] syndrome is a rare chromosomal disorder that is characterized by the development of refractory epilepsy during childhood with gradual declines in cognitive performance and behavior. Although the prognoses of seizures and intellectual disability associated with this condition are poor, life-t...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.02.013
更新日期：2016-09-01 00:00:00
abstract：:Two siblings, male and female, with identical lethal brain malformation are described. Their anomaly is characterized by very low brain weight, lissencephaly, wide ventricles and thin neopallium (colpocephaly) varying in thickness between 0.2 and 3 mm. The neocortex is four layered as in classic lissencephaly. Brainst...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(82)80008-9
更新日期：1982-01-01 00:00:00
abstract：:This is the first case report on the diagnosis of spinal cord injury due to hemorrhage during the neonatal period using magnetic resonance imaging (MRI). Somatosensory evoked potentials are also helpful in the functional demonstration of this lesion. When discrepant signs, alert consciousness and intact cranial nerves...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90114-7
更新日期：1994-01-01 00:00:00
abstract：:We report a 9-year-old girl with acute autonomic sensory and motor neuropathy (AASM) associated with human parvovirus B19 (HPV-B19) infection. The patient presented with fever, erythema of the entire body, and abdominal pain with vomiting. The titer of HPV-B19 IgM antibody was significantly elevated. Symptoms such as ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.03.003
更新日期：2011-02-01 00:00:00
abstract：BACKGROUND:The majority of spinal muscular atrophy (SMA) patients showed homozygous deletion or other mutations of SMN1. However, the genetic etiology of a significant number of SMA patients has not been clarified. Recently, mutation in the gene underlying cat SMA, limb expression 1 (LIX1), has been reported. Similarit...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.06.008
更新日期：2010-05-01 00:00:00
abstract：:In order to study the validity of disintegrative psychosis (DP) as defined in ICD-9, we compared the natural history of somatic morbidity of 13 patients given this diagnosis in childhood with a control group of 39 patients with infantile autism (IA) matched for gender, age, IQ and social class. Average follow-up time ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(99)00045-5
更新日期：1999-10-01 00:00:00
abstract：AIM:We aimed to establish objective and quantitative data on fine motor development in typically developing children using magnetic sensors. METHODS:The study included 110 Japanese elementary school children volunteers (57 boys, 53 girls). The participants were instructed to tap their thumbs and index fingers together...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.03.004
更新日期：2020-06-01 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：:The recent advances in neonatal neurology which are discussed include i) the improved organization of perinatal medical services, ii) technological advances including ultrasonography, brainstem auditory evoked responses and intracranial pressure monitoring and, iii) new developments in therapeutics. The development of...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80095-9
更新日期：1984-01-01 00:00:00
abstract：:The severity of intellectual sequelae and prognosis varies in patients with congenital ocular motor apraxia (COMA). Here, we explored this phenomenon with regard to the accompanying oculomotor signs and gross motor development, as well as the subtentorial structure defects. Ten patients diagnosed with COMA (M:F=4:6, 4...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.01.002
更新日期：2007-08-01 00:00:00
