A patient with simplified gyral pattern followed by progressive brain atrophy

Kure-Kageyama, Hiroko; Saito, Yoshiaki; Maegaki, Yoshihiro; Ogura, Kyozo; Matsuda, Atsue; Kuraoka, Masatsugu; Ohno, Kousaku

doi:10.1016/j.braindev.2006.11.008

Cited by 3 publications

(3 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Basel-Vanagaite and Dobyns also described a rapid decrease in OFC postnatally in the subgroup of patients without congenital microcephaly but with enlarged extraaxial space [ 1 ] . Similar progressive changes in the cerebrum have also been reported in a patient most likely categorized as microcephaly with simplifi ed gyri and pontocerebeller hypoplasia [ 4 ] . In spite of remarkable volume reductions in cerebral hemisphere cortices and white matter, the size of the bilateral basal ganglia, thalamus, and infratentorial structures was relatively preserved in these cases.…”

Section: Discussion ▼supporting

confidence: 74%

Progressive Atrophy of the Cerebrum in 2 Japanese Sisters with Microcephaly with Simplified Gyri and Enlarged Extraaxial Space

Hirose¹,

Haginoya²,

Yokoyama³

et al. 2011

Neuropediatrics

View full text Add to dashboard Cite

This is a case report that describes 2 sisters with microcephaly, simplified gyri, and enlarged extraaxial space. Clinical features of the cases include dysmorphic features, congenital microcephaly, failure of postnatal brain growth, neonatal onset of seizures, quadriplegia, and severe psychomotor delay. Neuroradiological imaging demonstrated hypoplasia of bilateral cerebral hemispheres with enlarged extraaxial spaces, simplified gyral patterns without a thickened cortex, hypoplastic corpus callosum, and enlarged lateral ventricles, with a reduction in gray and white matter volume during the prenatal and neonatal periods. Repeat MRI revealed progressive atrophy of the cerebral gray and white matter, with enlarged lateral ventricles, although the sizes of the bilateral basal ganglia, thalamus, and infratentorial structures were relatively preserved. These neuroradiological findings imply that this disease is caused by the gene involved in neuronal and glial proliferation in the ventricular zone and in tangential neuronal migration from the ganglionic eminence. The nature of the progressive degeneration of the hemispheric structures should be clarified.

show abstract

Section: Discussion ▼supporting

confidence: 74%

Progressive Atrophy of the Cerebrum in 2 Japanese Sisters with Microcephaly with Simplified Gyri and Enlarged Extraaxial Space

Hirose¹,

Haginoya²,

Yokoyama³

et al. 2011

Neuropediatrics

View full text Add to dashboard Cite

show abstract

“…Each patient was treated with 1-11 antiepileptic agents. Some of the clinical data from patients 8, 9, 11, and 12 have been presented previously [13][14][15].…”

Section: Methodsmentioning

confidence: 99%

“…None of them developed infantile spasms. Ictal EEG revealed focal or hemispheric spread of the epileptic activity without diffuse generalization (for details regarding patient 8, refer to [13]). The epileptic activities in different frequency bands were simultaneously observed in different areas within the ipsilateral and between the contralateral hemispheres.…”

Section: Diffuse Cortical Malformation With Erratic Twitches (N = 4; mentioning

confidence: 99%