2022 Volume 43 Issue 3 Pages 215-219
Joubert syndrome is an extremely rare disorder that presents with dysplasia of the cerebellum and brainstem, intellectual disability, hypotonia, movement disorders, and respiratory problems in the neonatal period. We present a case of Joubert syndrome with self-mutilation of the lower lip. The patient was a boy aged 3 years and 2 months old with Joubert syndrome. At the age of 3 years and 0 month, the patient suffered a penetrating wound due to severe biting of the lower lip. The lower lip was sutured under general anesthesia at the oral surgery department of a hospital, and soft-type mouth guards were placed in the upper and lower jaws. However, the patient was referred to our hospital because of poor fit after about 1 month. He complained of severe lower lip injury due to his self-mutilation at the age of 3 years and 7 months. Therefore, we made a mandibular mouth guard for him, but it could not prevent the self-mutilation. At the age of 3 years and 8 months, we made a maxillary mouth guard at the request of his parents. At the age of 3 years and 10 months, the patient still had a bite wound on the lower lip. To prevent mandibular lip entrapment, we made a mouth guard with augmentation on the mandibular anterior teeth on the labial side. As a result, new severe lower lip injury was not observed. At present, no recurrence of the self-mutilation behavior has been observed, but the possibility of recurrence cannot be ruled out because the cause is not clear. It is important to continue to support him and his family.
