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)
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)
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 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)
OBJECTIVE The aim of this study was to assess whether periventricular leukomalacia findings are sufficiently sensitive for predicting the severity of motor prognosis by conventional MRI in the near term. METHODS Preterm infants with T1 hyperintensity or cysts in the periventricular regions on term MRI were selected, and their gross motor functions were(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)