Infantile Refsum Disease is a rare genetic disorder that affects infants, causing developmental delays, vision loss, hearing impairment, and other physical symptoms. The disease is also known by other names such as neonatal phytanic acid storage disease, peroxisomal acyl-coenzyme A oxidase deficiency, and infantile phytanic acid storage disease. Regardless of its name, the effects of the disease are still the same. Due to a lack of treatment options, it is important for early diagnosis and management of symptoms to reduce the impact of the disease. Unfortunately, due to its rarity, many medical professionals are not familiar with the disease or its synonyms, which can lead to delayed diagnosis and treatment.