Pachygyria

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Satoru Sakazume - One of the best experts on this subject based on the ideXlab platform.

  • a case of baraitser winter syndrome with unusual brain mri findings Pachygyria subcortical band heterotopia and periventricular heterotopia
    Brain & Development, 2010
    Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru Sakazume
    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.

  • A case of Baraitser–Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia
    Brain & development, 2009
    Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru Sakazume
    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.

Takashi Shiihara - One of the best experts on this subject based on the ideXlab platform.

  • a case of baraitser winter syndrome with unusual brain mri findings Pachygyria subcortical band heterotopia and periventricular heterotopia
    Brain & Development, 2010
    Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru Sakazume
    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.

  • A case of Baraitser–Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia
    Brain & development, 2009
    Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru Sakazume
    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.

Natalio Fejerman - One of the best experts on this subject based on the ideXlab platform.

  • bilateral posterior agyria Pachygyria and epilepsy
    Brain & Development, 2003
    Co-Authors: Roberto Caraballo, Ricardo Cersosimo, Alberto Espeche, Natalio Fejerman
    Abstract:

    We analyzed the electroclinical findings in two patients with bilateral posterior agyria-Pachygyria. Both patients presented with mental retardation, mild motor deficit and epilepsy. The electroclinical findings were characterized by frequent tonic or atonic generalized seizures with occasionally simple or complex partial seizures. Interictal electroencephalography (EEG) showed occipital spikes and diffuse polyspike-wave paroxysms predominantly in the posterior region. Ictal EEG showed diffuse 10-11 Hz activity. Cerebral magnetic resonance imagings (MRIs) showed thickened cortex in the parieto-occipital lobes, bilaterally and symmetrically. The volume of underlying white matter appeared reduced, and the overlying subarachnoid spaces were enlarged. The occipital horns were dilated. These findings were compatible with agyria-Pachygyria of the posterior portions of the brain. In conclusion, in patients with mental retardation, mild motor deficit and epilepsy characterized by tonic or atonic generalized seizures, interictal EEG with diffuse polyspike-wave paroxysms predominantly in posterior region, posterior focal epileptilorm abnormalities and ictal diffuse 10-11 Hz activity, bilateral parieto-occipital agyria-Pachygyria should be considered as a possible etiology. Magnetic resonance image is the best neuroradiological study to identify this disorder of cortical development.

  • Bilateral posterior agyria–Pachygyria and epilepsy
    Brain & Development, 2003
    Co-Authors: Roberto Caraballo, Ricardo Cersosimo, Alberto Espeche, Natalio Fejerman
    Abstract:

    We analyzed the electroclinical findings in two patients with bilateral posterior agyria-Pachygyria. Both patients presented with mental retardation, mild motor deficit and epilepsy. The electroclinical findings were characterized by frequent tonic or atonic generalized seizures with occasionally simple or complex partial seizures. Interictal electroencephalography (EEG) showed occipital spikes and diffuse polyspike-wave paroxysms predominantly in the posterior region. Ictal EEG showed diffuse 10-11 Hz activity. Cerebral magnetic resonance imagings (MRIs) showed thickened cortex in the parieto-occipital lobes, bilaterally and symmetrically. The volume of underlying white matter appeared reduced, and the overlying subarachnoid spaces were enlarged. The occipital horns were dilated. These findings were compatible with agyria-Pachygyria of the posterior portions of the brain. In conclusion, in patients with mental retardation, mild motor deficit and epilepsy characterized by tonic or atonic generalized seizures, interictal EEG with diffuse polyspike-wave paroxysms predominantly in posterior region, posterior focal epileptilorm abnormalities and ictal diffuse 10-11 Hz activity, bilateral parieto-occipital agyria-Pachygyria should be considered as a possible etiology. Magnetic resonance image is the best neuroradiological study to identify this disorder of cortical development.

  • Bilateral posterior agyria–Pachygyria and epilepsy
    Brain & Development, 2003
    Co-Authors: Roberto Caraballo, Ricardo Cersosimo, Alberto Espeche, Natalio Fejerman
    Abstract:

    We analyzed the electroclinical findings in two patients with bilateral posterior agyria-Pachygyria. Both patients presented with mental retardation, mild motor deficit and epilepsy. The electroclinical findings were characterized by frequent tonic or atonic generalized seizures with occasionally simple or complex partial seizures. Interictal electroencephalography (EEG) showed occipital spikes and diffuse polyspike-wave paroxysms predominantly in the posterior region. Ictal EEG showed diffuse 10-11 Hz activity. Cerebral magnetic resonance imagings (MRIs) showed thickened cortex in the parieto-occipital lobes, bilaterally and symmetrically. The volume of underlying white matter appeared reduced, and the overlying subarachnoid spaces were enlarged. The occipital horns were dilated. These findings were compatible with agyria-Pachygyria of the posterior portions of the brain. In conclusion, in patients with mental retardation, mild motor deficit and epilepsy characterized by tonic or atonic generalized seizures, interictal EEG with diffuse polyspike-wave paroxysms predominantly in posterior region, posterior focal epileptilorm abnormalities and ictal diffuse 10-11 Hz activity, bilateral parieto-occipital agyria-Pachygyria should be considered as a possible etiology. Magnetic resonance image is the best neuroradiological study to identify this disorder of cortical development.

Akira Nishimura - One of the best experts on this subject based on the ideXlab platform.

  • a case of baraitser winter syndrome with unusual brain mri findings Pachygyria subcortical band heterotopia and periventricular heterotopia
    Brain & Development, 2010
    Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru Sakazume
    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.

  • A case of Baraitser–Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia
    Brain & development, 2009
    Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru Sakazume
    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.

Yoshiyuki Yamada - One of the best experts on this subject based on the ideXlab platform.

  • a case of baraitser winter syndrome with unusual brain mri findings Pachygyria subcortical band heterotopia and periventricular heterotopia
    Brain & Development, 2010
    Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru Sakazume
    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.

  • A case of Baraitser–Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia
    Brain & development, 2009
    Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru Sakazume
    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.