ABSTRACT
Audiological manifestations in a four-year-old child with Infantile Refsum disease are reported. He was born to non-consanguineous parents and had normal birth history and mildly delayed milestones prior to presentation. Clinical features were characterized by neuroregression, retinitis pigmentosa, hearing loss, peripheral neuropathy and white matter signal changes on magnetic resonance imaging. Biochemical evaluation showed elevated serum levels of long chain fatty acid and phytanic acid confirming the diagnosis. The audiological profile was characterized by absent auditory brainstem responses with robust otocoustic emissions, which indicated auditory neuropathy as the possible cause of hearing loss.
Subject(s)
Hearing Loss, Sensorineural/diagnosis , Refsum Disease, Infantile/complications , Child, Preschool , Hearing Loss, Sensorineural/etiology , Hearing Tests , Humans , MaleABSTRACT
PURPOSE: To review and describe findings, pathophysiology, and management of infantile Refsum disease in a young adult, and to compare with those of classic Refsum Disease. METHODS: Retrospective chart and digital photography review. RESULTS: A 25-year-old woman with a diagnosis of infantile Refsum disease presented with progressively decreasing vision. Findings included a noncorpuscular pigmentary degeneration of both fundi, optic nerve head drusen, attenuated retinal vasculature, cataract, myopia, and esotropia. She was treated with a low phytanic acid diet, resulting in improved metabolic values on laboratory testing. CONCLUSION: Infantile Refsum disease has clinical features and a pathophysiology distinct from classic Refsum disease, despite occasionally presenting for examination later in life. Ophthalmic and systemic distinctions between the two are important to consider for the ophthalmologist, who may be involved in the initial diagnosis of the patient.
Subject(s)
Eye Diseases/etiology , Refsum Disease, Infantile/complications , Vision Disorders/etiology , Adult , Diagnosis, Differential , Female , Humans , Phytanic Acid/blood , Refsum Disease/diagnosis , Refsum Disease, Infantile/diagnosis , Retrospective StudiesABSTRACT
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.
