Reply to the Letter: 'Nationwide survey of Arima syndrome: Revised diagnostic criteria from epidemiological analysis'

摘要

We appreciate interest and opinion regarding our study [1]. Your opinions may be summarized in two points: (1) Arima syndrome (AS) has a molar tooth sign (MTS), and (2) AS should be included in Joubert syndrome-related diseases (JSRD) [2]. Although several children with AS reportedly showed MTS [3], some were atypical MTS [4]. MTS is the major imaging sign of small midbrain accompanied with the large interpeduncular fossa, elongated superior cerebel-lar peduncles and absence of their decussation [5]. MTS is closely related to midline defect of cerebellum, but is only one of the findings. In the study, we used the terms "cerebellar vermis agenesis or hypoplasia" and "brainstem malformation" in exchange for "MTS", which is not adequate for expression of these posterior fossa malformations as observed in autopsy.