Neuropediatrics 2011; 42(04): 163-166
DOI: 10.1055/s-0031-1287771
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

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

M. Hirose
1  Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
,
K. Haginoya
1  Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
2  Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan
,
H. Yokoyama
3  Department of Nursing, Yamagata University Faculty of Medicine, Yamagata, Japan
,
A. Kikuchi
1  Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
,
N. Hino-Fukuyo
1  Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
,
M. Munakata
1  Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
,
M. Uematsu
1  Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
,
K. Iinuma
4  Ishinomaki Red Cross Hospital, Ishinomaki, Japan
,
M. Kato
5  Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan
,
T. Yamamoto
6  Tokyo Women’s Medical University Institute for Integrated Medical Sciences, Tokyo, Japan
,
S. Tsuchiya
1  Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
› Author Affiliations
Further Information

Publication History

received 25 April 2011

accepted 28 August 2011

Publication Date:
19 September 2011 (online)

Abstract

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.