Abstract:
:Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle which causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed onset type. Neonatal CPS1D cases often present their symptoms within the first days of life. Delayed onset type were adolescents or adults, and infantile cases were rare. We report a case of CPS1D in a boy who developed symptoms at one month of age. He showed excellent response to treatments including continuous hemodialysis, drugs and a low-protein diet. His development and weight gain were good at the last follow-up at 1 year and three months of age. Molecular assay of the CPS1 gene demonstrated that the patient was heterozygous for c.2407C>G (R803G: maternal) in exon 20 and c.3784C>T (R1262X: paternal) in exon 32. Our clinical experience suggests that CPS1D could be one of the causes of hyperammonemia in early infantile cases.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Ono H,Suto T,Kinoshita Y,Sakano T,Furue T,Ohta Tdoi
10.1016/j.braindev.2008.12.013subject
Has Abstractpub_date
2009-11-01 00:00:00pages
779-81issue
10eissn
0387-7604issn
1872-7131pii
S0387-7604(08)00299-4journal_volume
31pub_type
杂志文章abstract:BACKGROUND:Acute disseminated encephalomyelitis (ADEM) is clinically characterized by the acute onset of neurological symptoms after a viral infection or immunization, and is thought to represent an autoimmune disease directed against myelin. Tau protein is a phosphorylated microtubule-associated protein, primarily loc...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.11.013
更新日期:2014-01-01 00:00:00
abstract::Idiopathic hypereosinophilic syndrome (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with peripheral neuropathy, encephalopathy and cerebral thromboembolism. We report a 7-year-old boy with IHES who developed central sinovenous thrombosis and cerebral hemorrhage. Although he had hypereosino...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.08.004
更新日期:2007-04-01 00:00:00
abstract::Findings from a Golgi study of the visual cortex in patients with the Down syndrome were compared with those from neurologically normal, age-matched control subjects. The dendritic atrophy seen in childhood continued into adulthood, with a marked decrease in dendritic branching, dendritic length, and spine frequency i...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(89)80082-8
更新日期:1989-01-01 00:00:00
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journal_title:Brain & development
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doi:10.1016/j.braindev.2013.01.010
更新日期:2013-09-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章,评审
doi:
更新日期:1992-05-01 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
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.04.002
更新日期:2011-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(97)00040-5
更新日期:1997-09-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.09.008
更新日期:2010-09-01 00:00:00
abstract:AIM:To describe beneficial effects of callosotomy on KCNQ2-related intractable epilepsy. CASE REPORT:Our patient was a 10-year-old girl who had developed epilepsy during the neonatal period, accompanied by a suppression-burst pattern on the electroencephalography (EEG). The patient showed profound psychomotor developm...
journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.05.005
更新日期:2020-09-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.07.008
更新日期:2009-06-01 00:00:00
abstract::Relative to their numbers, more than twice the number of disabled children fell victim to the Great East Japan Earthquake than did normal people. It was important to find out needs and provide support, as the needs of disabled children vulnerable to the disaster, such as a shortage of diapers of the right size for dis...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2012.09.008
更新日期:2013-03-01 00:00:00
abstract::Seventeen normal term infants delivered at the Jikei University School of Medicine were placed daily on a pedoscope in the supine and prone position after birth, and the movement of the gravity center and changes in the activities of the extremities were assessed. The results indicated that both the activity of the ex...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80118-8
更新日期:1986-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.08.007
更新日期:2012-05-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.04.013
更新日期:2010-05-01 00:00:00
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journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.04.009
更新日期:2020-09-01 00:00:00
abstract::We report seizures induced by adrenocorticotropic hormone (ACTH), which were demonstrated clinically and electro-encephalographically, in a severely handicapped 7-month-old infant with West syndrome due to perinatal hypoxicischemic encephalopathy. Although tonic spasms (original seizures) decreased soon after starting...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(89)80063-4
更新日期:1989-01-01 00:00:00
abstract::A 6-month-old girl developed West syndrome and it remitted in association with valproate-induced hepatic dysfunction. Plasma -alanine elevated after valproate hepatotoxicity, which seemed to be a possible cause of remission. The patient has been seizure-free with normal electroencephalogram for 12 months without any a...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(02)00037-2
更新日期:2002-06-01 00:00:00
abstract::Dihydropyrimidinase deficiency is a rare autosomal recessive disease affecting the second step of pyrimidine degradation. It is caused by mutations in the DPYS gene. Only approximately 30 cases have been reported to date, with a phenotypical variability ranging from asymptomatic to severe neurological illness. We repo...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.10.005
更新日期:2019-03-01 00:00:00
abstract::A neurologic and neuropsychologic test battery was administered to a sample of 35 children drawn from all those in a defined geographic area who had been hospitalized for head trauma before age 7 during the years 1970-1976. Examination was performed 3 1/2 to 10 years after injury, at age 6-15. Twelve subjects had been...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80095-0
更新日期:1988-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2004.09.007
更新日期:2005-08-01 00:00:00
abstract::A case of the rare juvenile form of Kearns-Shy syndrome with progressive external ophthalmoplegia and lid ptosis, carditis, skeletal muscle weakness, seizures, mental subnormality, short stature, EEG abnormality and deafness is presented. Electromyography revealed a myopathic pattern. Histochemical studies on quadrice...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(84)80046-7
更新日期:1984-01-01 00:00:00
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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::Organic acidemias (OAs) have been detected worldwide in symptomatic patients using gas chromatography mass spectrometry. We diagnosed 188 Asian cases of OAs by analysis of urinary organic acids and investigated their clinical onset and outcome. Methylmalonic acidemia (MMA) was most common (74 cases), followed by propi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2004.04.004
更新日期:2005-01-01 00:00:00
abstract::Overnight sleep polygrams were recorded before and during therapy in nine patients with infantile spasms. Results showed that ACTH therapy increased the waking time and decreased rapid eye movement sleep. Thus it caused sleep disturbance in patients with infantile spasms. During ACTH therapy the number of rapid eye mo...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(81)80006-x
更新日期:1981-01-01 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:PURPOSE:To evaluate the incidence and clinical importance of brain gliomas - optic pathway gliomas (OPGs) and especially gliomas outside the optic pathway (GOOP) for children with neurofibromatosis type 1 (NF1), additionally, to assess the causes of obstructive hydrocephalus in NF1 children with an emphasis on cases ca...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.04.003
更新日期:2019-09-01 00:00:00
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 a...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.03.013
更新日期:2019-08-01 00:00:00
abstract::The neuropathological characteristics and alteration of the dopamine D2 receptor (D2R) were investigated in 27 cases of hypoxic-ischemic basal ganglia necrosis (BGN) by means of neuropathological and immunohistochemical methods. Perinatal hypoxic-ischemic BGN manifested neuronal karyorrhexis as well as eosinophilia, k...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(98)00003-5
更新日期:1998-03-01 00:00:00
abstract::Head angular stability is essential for postural control in whole body movement. Using the opto-electronic ELITE system, we have studied head orientation during the movements of squatting from the standing position and straightening-up from the squatting position in 12 children with spastic diplegia and 12 age-matched...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(99)00123-0
更新日期:2000-03-01 00:00:00