Infantile Refsum disease (IRD) is a peroxisome biogenesis disorder (PBD), and is part of a larger group of diseases called leukodystrophies, which are inherited conditions that damage the white matter of the brain and affect motor movements. Multiple signs and symptoms of IRD begin in infancy and progress through early childhood, including hearing and visual impairment, intellectual and growth impairment, seizures, liver involvement, and orofacial and dental abnormalities. This paper presents a case history of a 12-year-old female patient with IRD who underwent dental rehabilitation in the operating room under general anesthesia and includes a 2-year follow-up. Medical, dental, and management considerations in the care of this child's condition are presented. This paper also discusses the importance of a multidisciplinary approach in the management of children with special needs.
Several factors affect healing of lip repair in children with complete cleft lip and palate in the immediate postoperative period. However, children with holoprosencephaly present a unique challenge. Because of their wide midline clefts and premaxillary agenesis they have protrusive positioning of their tongue, which can adversely affect the surgical result. In these cases we have found a postsurgical obturator made with hard-setting acrylic to be especially useful. Such an appliance may be used for the initial healing period (1-2 weeks). Two cases are presented here where such a device was used successfully.
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