7 results on '"Takashi Shiihara"'
Search Results
2. Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord
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Mitsuhiro Kato, Takashi Shiihara, Naomi Hino-Fukuyo, Mitsugu Uematsu, Shigeo Kure, Keiko Ishii, Atsushi Kamei, Kazuhiro Haginoya, and Atsuo Kikuchi
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Adult ,Pediatrics ,medicine.medical_specialty ,Microcephaly ,Adolescent ,Congenital cytomegalovirus infection ,Cytomegalovirus ,Retrospective diagnosis ,Asymptomatic ,Umbilical cord ,Polymerase Chain Reaction ,Cerebral palsy ,Umbilical Cord ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Developmental Neuroscience ,Intellectual Disability ,medicine ,Humans ,030212 general & internal medicine ,Child ,Asymptomatic Infections ,Retrospective Studies ,Epilepsy ,business.industry ,Cerebral Palsy ,Infant, Newborn ,virus diseases ,Brain ,Infant ,Retrospective cohort study ,General Medicine ,Cortical dysplasia ,medicine.disease ,Magnetic Resonance Imaging ,White Matter ,Surgery ,Malformations of Cortical Development ,medicine.anatomical_structure ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Cytomegalovirus Infections ,Neurology (clinical) ,Tissue Preservation ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
Background Congenital cytomegalovirus (CMV) infection causes various neurological sequelae. However, most infected infants are asymptomatic at birth, and retrospective diagnosis is difficult beyond the neonatal period. Objective This study aimed to investigate the aspects of neurological sequelae associated with asymptomatic congenital CMV infection. Methods We retrospectively analyzed 182 patients who were suspected of having asymptomatic congenital CMV infection with neurological symptoms in Japan. Congenital CMV infection was diagnosed by quantitative polymerase chain reaction amplification of CMV from dried umbilical cord DNA. Results Fifty-nine patients (32.4%) who tested positive for CMV were confirmed as having congenital CMV infection. Among 54 congenital CMV patients, major neurological symptoms included intellectual disability (n = 51, 94.4%), hearing impairment (n = 36, 66.7%) and cerebral palsy (n = 21, 38.9%), while microcephaly (n = 16, 29.6%) and epilepsy (n = 14, 25.9%) were less common. In a brain magnetic resonance imaging (MRI) study, cortical dysplasia was observed in 27 CMV-positive patients (50.0%), and all patients (100%) had cerebral white matter (WM) abnormality. Intracranial calcification was detected by CT in 16 (48.5%) of 33 CMV-positive patients. Cerebral palsy, cortical dysplasia and a WM abnormality with a diffuse pattern were associated with marked intellectual disability. Conclusions Brain MRI investigations are important for making a diagnosis and formulating an intellectual prognosis. Analysis of umbilical cord tissue represents a unique and useful way to retrospectively diagnose congenital CMV infection.
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- 2015
3. A mild case of giant axonal neuropathy without central nervous system manifestation
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Akihiko Ishiyama, Takashi Shiihara, Takashi Saito, Masayuki Sasaki, Yuko Saito, Eiji Nakagawa, Shota Yuasa, Akihiro Hashiguchi, Reiko Koichihara, Ayako Shioya, Hiroshi Takashima, Yoshiaki Saito, Yujiro Higuchi, Kenji Sugai, and Hirofumi Komaki
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0301 basic medicine ,Male ,Central nervous system ,Hyperreflexia ,03 medical and health sciences ,0302 clinical medicine ,Atrophy ,Developmental Neuroscience ,medicine ,Humans ,Child ,Genetic Association Studies ,Giant axonal neuropathy ,Nerve biopsy ,medicine.diagnostic_test ,business.industry ,Pyramidal Cells ,Giant axon ,General Medicine ,Anatomy ,medicine.disease ,Magnetic Resonance Imaging ,Axons ,Pedigree ,Cytoskeletal Proteins ,030104 developmental biology ,medicine.anatomical_structure ,Peripheral neuropathy ,Giant Axonal Neuropathy ,Pediatrics, Perinatology and Child Health ,Neurology (clinical) ,medicine.symptom ,Paraplegia ,business ,030217 neurology & neurosurgery - Abstract
An 11-year-old boy presented with progressive walking disturbances. He exhibited severe equinovarus feet that together presented with hyperreflexia of the patellar tendon and extensor plantar, resembling spastic paraplegia or upper neuron disease. He showed mild distal muscle atrophy, as well. We did not observe signs of cognitive impairment, cerebellar signs, or brain magnetic resonance imaging abnormalities. Nerve biopsy showed giant axon swellings filled with neurofilaments. Gene analysis revealed novel compound heterozygous missense mutations in the gigaxonin gene, c.808G>A (p.G270S) and c.1727C>A (p.A576E). He was diagnosed with mild giant axonal neuropathy (GAN) without apparent central nervous system involvement. Patients with classical GAN manifest their symptoms during early childhood. Mild GAN, particularly in early stages, can be misdiagnosed because of lack of typical hair features and incomplete or indistinct peripheral and central nervous system symptoms. This case is important since it can aid to identify atypical and milder clinical courses of GAN. This report widens the mild GAN clinical spectrum, alerting physicians for correct diagnosis.
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- 2015
4. A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease
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Mitsugu Uematsu, Takashi Shiihara, Kiyoko Sameshima, Kengo Moriyama, and Mio Watanabe
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Male ,Pathology ,medicine.medical_specialty ,Proteolipid protein 1 ,Pelizaeus-Merzbacher Disease ,Nonsense-mediated decay ,DNA Mutational Analysis ,medicine.disease_cause ,Frameshift mutation ,Developmental Neuroscience ,medicine ,Evoked Potentials, Auditory, Brain Stem ,Humans ,Spasticity ,Frameshift Mutation ,Myelin Proteolipid Protein ,Mutation ,medicine.diagnostic_test ,business.industry ,Pelizaeus–Merzbacher disease ,Brain ,Infant ,Magnetic resonance imaging ,General Medicine ,medicine.disease ,Magnetic Resonance Imaging ,Myelin proteolipid protein ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Disease Progression ,Neurology (clinical) ,medicine.symptom ,business ,Follow-Up Studies - Abstract
Background Pelizaeus–Merzbacher disease (PMD), a hypomyelinating leukodystrophy, and the related but less severe allelic spastic paraplegia 2 (SPG2) are caused by mutations in the proteolipid protein 1 (PLP1) gene. Magnetic resonance imaging (MRI) is pivotal for diagnosing these disorders. The severity of PMD/SPG2 varies, and for a milder form of PMD, there have been some reports of near-normal findings in T1-weighted images but abnormal findings in T2-weighted images. Patient We report the case of a 5-year-old boy diagnosed with a milder form of PMD caused by a novel PLP1 mutation in exon 3: c.300delC (p.I100IfsX13). He had delayed development from several months of age and was able to walk with support at 19 months in spite of the spasticity in his lower extremities. Hypomyelination was noted at 12 months by brain MRI. Motor nerve conduction studies showed decreased velocities with reduced amplitudes. Follow-up MRI at 1-year intervals from 18 months until 55 months of age showed gradual myelination progress. Discussion The single nucleotide deletion identified in this patient can cause a frameshift and premature termination of PLP1. Via the nonsense-mediated mRNA decay mechanism of this mutation will result in loss-of-function, leading to a milder form of PMD. The present case is compatible with previously reported cases of milder form of PMD. We incidentally identified progressive myelination in this patient by T1-weighted images obtained by serial MRI. This finding adds to our understanding of the pathological stages of a milder form of PMD.
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- 2014
5. Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases
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Takashi Shiihara, Jun-ichi Takanashi, Masahiro Kikuchi, Tomohide Goto, Makiko Saitoh, Gaku Yamanaka, Mayu Shinohara, Hideo Yamanouchi, Masaya Kubota, and Masashi Mizuguchi
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Adult ,Male ,medicine.medical_specialty ,Encephalopathy ,Single-nucleotide polymorphism ,Biology ,Gastroenterology ,Communicable Diseases ,Pathogenesis ,Young Adult ,Developmental Neuroscience ,Internal medicine ,Genotype ,medicine ,Carnitine palmitoyltransferase II ,Humans ,Carnitine ,Allele ,Child ,Aged ,Genetics ,Polymorphism, Genetic ,Carnitine O-Palmitoyltransferase ,Brain Diseases, Metabolic ,Haplotype ,Infant ,General Medicine ,Syndrome ,Middle Aged ,medicine.disease ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,Neurology (clinical) ,medicine.drug - Abstract
The high incidence of acute encephalopathy in East Asia suggests the role of genetic factors in its pathogenesis. It has recently been reported that variations of the CPT II (carnitine palmitoyl transferase II) gene may be associated with fatal or severe cases of influenza-associated encephalopathy. In the present study, we examined the genotype of CPT II in cases of acute encephalopathy associated with various preceding infections. Twenty-nine Japanese patients with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) or acute necrotizing encephalopathy (ANE) were studied. The frequency of F352C of CPT II exon 4 was significantly higher in patients than in controls. All patients who had allele C in F352C had allele I in V368I and allele M in M647V (CIM haplotype), which reportedly decreases CPT II activity to one third of that with FIM or FVM haplotype. The frequency of CIM haplotype was significantly different between patients and controls, but not between AESD and ANE. Our results revealed that having at least one CIM allele is a risk factor for the onset of acute encephalopathy, regardless of its antecedent infections.
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- 2010
6. A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia
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Kenichi Maruyama, Takashi Shiihara, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, and Satoru Sakazume
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Male ,Pathology ,medicine.medical_specialty ,Baraitser-Winter syndrome ,Developmental Neuroscience ,Ptosis ,Japan ,Intellectual Disability ,Brain mri ,medicine ,Humans ,Abnormalities, Multiple ,Hypertelorism ,Comparative Genomic Hybridization ,Pachygyria ,Brain ,Infant ,General Medicine ,Syndrome ,medicine.disease ,Iris coloboma ,Magnetic Resonance Imaging ,Periventricular heterotopia ,Heterotopia (medicine) ,Phenotype ,Pediatrics, Perinatology and Child Health ,Neurology (clinical) ,medicine.symptom ,Psychology - Abstract
Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology. Patients suffering from this syndrome have been also found to show brain anomalies such as pachygyria, subcortical-band heterotopia (SBH), and hippocampal malformations; therefore, these anomalies have been included in the phenotypic spectrum of this syndrome. We report the case of a Japanese boy suffering from BaWS; the patient's brain magnetic resonance imaging scan revealed pachygyria, SBH, and periventricular heterotopia. However, the results of the genome-wide array comparative genomic hybridization did not reveal any chromosomal rearrangements.
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- 2009
7. Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor delta2 autoantibody
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Yukitoshi Takahashi, Akihiro Konno, Takashi Shiihara, Kiyoshi Hayasaka, and Mitsuhiro Kato
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Male ,Cerebellar Ataxia ,Virus ,Developmental Neuroscience ,Magnetic resonance imaging of the brain ,Medicine ,Humans ,Receptor ,Pleocytosis ,Autoantibodies ,Inflammation ,medicine.diagnostic_test ,Cerebellar ataxia ,business.industry ,Glutamate receptor ,Autoantibody ,Infant ,General Medicine ,Magnetic Resonance Imaging ,medicine.anatomical_structure ,nervous system ,Receptors, Glutamate ,Pediatrics, Perinatology and Child Health ,Immunology ,Neurology (clinical) ,medicine.symptom ,business ,Respiratory tract - Abstract
Acute cerebellar ataxia is usually a self-limited benign disease, which may develop in children after certain viral infections or vaccinations. There are several reports of acute cerebellar ataxia associated with autoantibodies. Glutamate receptor delta2, a member of the glutamate receptor family, is predominantly expressed in cerebellar Purkinje cells and plays a crucial role in cerebellar functions. To date anti-GluRdelta2 autoantibody was detected in a patient with chronic cerebellitis. Herein, an 18-month-old boy presented with cerebellar ataxia 9 days following a mild respiratory tract infection. Although cerebellar ataxia gradually improved, it worsened yet again following mumps and varicella virus infection. Cerebro-spinal fluid examination and magnetic resonance imaging of the brain demonstrated pleocytosis and meningeal enhancement, respectively. Furthermore, glutamate receptor delta2 autoantibody was detected in serum and cerebro-spinal fluid. Thus, we believe that the glutamate receptor delta2 autoantibody may play a role in cerebellar ataxia and consecutive cerebellitis.
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- 2006
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