Cerebrotendinous xanthomatosis (CTX) is a pediatric disorder that is usually diagnosed in adulthood, and the clinical phenotype includes both neurologic and extra-neurologic findings. When studying the natural history of the disease, it was observed that each symptom occurs at different ages. According to the studies in adults, the clinical phenotype in children is dominated by extra-neurological findings, while neurological findings, osteoporosis, and tendon xanthomas occur in adulthood. However, the diagnostic delay has been reported to be more than 20 years in some cases, so pediatric case reports should be given special consideration for early diagnosis and intervention. According to the pediatric studies, cerebellar signs, peripheral neuropathy, psychiatric findings, and early osteoporosis have been reported in the literature as warning signs for early diagnosis of CTX, in addition to other known findings such as cataracts, chronic diarrhea, developmental delay, and cognitive decline. In addition to knowledge of CTX clinical findings, testing for CTX in individuals with two or more clinical findings can be a good method for early diagnosis, as CTX is not part of national screening programs in any country. Additionally, more recently described signs and symptoms in children with CTX such as behavioral or psychiatric findings, autism spectrum disorder, and early osteoporosis should also be considered when deciding who should be tested for CTX. Effort toward establishing newborn screening for CTX should be a high priority worldwide, as it is a treatable disease that could save many lives.