Noriko Aida

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PURPOSE To determine the MR characteristics of brain abnormalities in Fukuyama congenital muscular dystrophy (FCMD). METHODS We reviewed 30 MR examinations of 21 patients with FCMD to assess cerebral and cerebellar cortical dysplasia, white matter changes, and miscellaneous abnormalities. RESULTS On MR images, all patients had thick and bumpy cortices(More)
Nonketotic hyperglycinemia (NKH), or glycine encephalopathy, is an autosomal recessive disorder caused by a defect in the glycine cleavage enzyme system. In neonatal-onset NKH, patients manifest lethargy, hypotonia, apnea, and intractable epileptic seizures that are not specific to this disease. We experienced a 6-year-old girl with spastic quadriplegia,(More)
BACKGROUND AND PURPOSE MR susceptibility-weighted imaging (SWI) is a highly sensitive technique for detection of hemorrhage, but its utility in the evaluation of children with laminar necrosis is not yet known. We assessed whether cortical laminar necrosis in pediatric patients contains hemorrhage on SWI. MATERIALS AND METHODS "Cortical laminar necrosis"(More)
BACKGROUND AND PURPOSE The purpose of our study was to determine whether MR studies in the neonatal period are predictive of the neuroradiologic sequelae and clinical outcome in premature and term infants with perinatal brain injury. METHODS Thirty subjects (15 premature and 15 term infants) with abnormalities revealed by initial MR studies were(More)
PURPOSE To determine the MR appearance of cerebellar abnormalities in Fukuyama congenital muscular dystrophy. METHODS We reviewed brain MR images of 25 patients with Fukuyama congenital muscular dystrophy and examined the autopsy specimens of a 23-month-old girl with the disease to determine the pathologic nature of the MR findings. RESULTS MR studies(More)
BACKGROUND Deficiency of 4-aminobutyrate aminotransferase (GABA-T) is a rare disorder of GABA catabolism, with only a single sibship reported. We report on a third case, a Japanese female infant with severe psychomotor retardation and recurrent episodic lethargy with intractable seizures, with the diagnosis facilitated by proton magnetic resonance (MR)(More)
Cerebellar and/or vermis atrophy is recognized in various types of childhood disorders with clinical and genetic heterogeneity. Although careful evaluation of clinical features and neuroimaging can lead to correct diagnosis of disorders, their diagnosis is sometimes difficult because clinical features can overlap with each other. In this study, we performed(More)
Brain metabolite concentrations change dynamically throughout development, especially during early childhood. The purpose of this study was to investigate the brain metabolite concentrations of neonates (postconceptional age (PCA): 30 to 43 weeks) using single-voxel magnetic resonance spectroscopy (MRS) and to discuss the relationships between the changes(More)
We diagnosed three siblings from consanguineous east Asian parents with leukoencephalopathy with brainstem and spinal cord involvement and high lactate (LBSL) from characteristic MRI, MRS findings and a homozygous mutation in the DARS2 gene. The neurological symptoms of the three patients consisted of psychomotor developmental delay, cerebellar ataxia since(More)
Acute encephalopathy is a disease group more commonly seen in children. It is often severe and has neurological sequelae. Imaging is important for early diagnosis and prompt treatment to ameliorate an unfavorable outcome, but insufficient sensitivity/specificity is a problem. To overcome this, a new value (fraction of high b-pair (FH)) that could be(More)