CHERI: time to identify the syndrome?
Chiari I malformations are congenital abnormalities that are etiologically heterogeneous. Some studies recognize a probable association between Chiari 1 malformation, delayed language or motor development, and mental retardation with or without epilepsy. The present patient appeared to have an isolated cleft palate and Chiari 1 malformation with co-existing functional and behavioral disorders (i.e., speech delay, mental retardation, and deviant electroencephalography [EEG]). In consideration of the cleft palate population, the implication of the present case study is that more attention should be paid to the developmental milestones in children with cleft palate. Because several cases of Chiari I anomaly co-occurring with mental retardation and deviant EEG or epilepsy have been recognized, it appears justified to identify a syndrome, which is here called CHERI (Chiari 1 malformation with or without cleft palate, deviant EEG or epilepsy, and retarded intelligence with delayed language development). It will be important in the future to describe those cases identified to delineate the clinical picture and to estimate the frequency of the occurrence of various characteristics.
Haapanen
Marja-Leena
ML
Department of Otorhinolaryngology, Helsinki University Central Hospital, Helsinki, Finland. marja-leena.haapanen@hus.fi
D001139:Arnold-Chiari Malformation / Q000150:complications* / Q000175:diagnosis*; D002972:Cleft Palate / Q000209:etiology*; D002658:Developmental Disabilities / Q000209:etiology; D004569:Electroencephalography; D004827:Epilepsy / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D007805:Language Development Disorders / Q000209:etiology; D008297:Male; D013577:Syndrome