Rare Diseases Symptoms Automatic Extraction

Congenital polymicrogyria including the perisylvian region in early childhood.

[kabuki syndrome]

Six pediatric cases including four infants with congenital polymicrogyria including the perisylvian region are presented herein. Their clinical features were analyzed and compared with patients suffering from congenital bilateral perisylvian syndrome (CBPS). Two specific abnormalities were diagnosed as accompanying disorders in two cases, namely Kabuki syndrome and Peters' anomaly. In the other four cases, the pathogenetic etiology was not elucidated. Subtle symptoms, such as choking and drooling became detectable in one case each, and expressive language development was delayed in two patients. A developmental delay became apparent in five cases during the follow-up period, and epilepsy was observed in one patient with onset at 12 years of age. Our results indicate that the presence of perisylvian polymicrogyria may not always result in the development of oropharyngoglossal dysfunction or dysarthria, although most patients tend to gradually show the onset of developmental disorders. To support cognitive and psychosocial development, an early integrated approach, including not only conventional speech and language therapy, but also various communication methods is essential for patients with congenital polymicrogyria including the perisylvian region.