Abstract：
:An 8-year-old Japanese boy had Sakoda complex (basal encephalomeningocele, agenesis of the corpus callosum, and cleft lip and/or palate) associated with bilateral anophthalmia, dysgenesis of the cerebral cortex, severe mental retardation, and intractable epilepsy as core symptoms and hemiparesis, microcephalus, short stature, and hemivertebra. Tada and Nakamura described the first case of the Sakoda complex associated with bilateral anophthalmia, cortical dysgenesis, neonatal-onset seizures, and severe mental retardation. Fourteen patients with the Sakoda complex with or without ocular dysplasia were reviewed. It is proposed that these cases belong to a clinical entity that is distinguishable from the remaining 12 patients because of bilateral anophthalmia, cortical dysgenesis, and its resulting severe mental retardation and intractable epilepsy. There is a possibility that these two cases are one severe end of certain spectrum disorders in which certain common gene(s) might be implicated.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Ehara H,Kurimasa A,Ohno K,Takeshita Kdoi
10.1016/s0887-8994(97)00231-2subject
Has Abstractpub_date
1998-05-01 00:00:00pages
445-51issue
5eissn
0887-8994issn
1873-5150pii
S0887899497002312journal_volume
18pub_type
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