Early diagnosis for cerebrotendinous xanthomatosis with juvenile cataract and family history

Purpose: Cerebrotendinous xanthomatosis is characterized by excessive accumulation of cholestanol and cholesterol in multiple tissues including the brain, tendons, and the crystalline lens. Since juvenile cataract is the most common and early pathognomonic feature of this disease, it is critical to analyze some factors such as family history, systemic findings, and cataract morphology in children with cataracts. This study aims to report the early diagnosis of cerebrotendinous xanthomatosis in four siblings presenting with unique juvenile cataracts from a family with consanguineous marriage.Methods: This is a retrospective noncomparative case series. Four symptomatic siblings and their asymptomatic parents were examined. Detailed eye examination, medical history analysis, evaluation of systemic findings, biochemical tests, and mutation analysis were performed.Results: While one sister presented with bilateral fleck-like opacities and posterior subcapsular cataract, two twin sisters had anterior star-shaped sutural cataract and posterior subcapsular cataract besides bilateral fleck-like opacities. The 20-year-old brother who had previously died in a traffic accident had bilateral juvenile cataract of unknown morphology. When asked specifically, none of the cases described a history of childhood diarrhea. Two sisters and one brother had neurological findings such as trouble walking and slowed speech. No significant ocular or systemic finding was found in both asymptomatic parents. Homozygous c.1263 + 1 G>A (intron 7) mutation was detected in the CYP27A1 gene in all symptomatic cases.Conclusion: In the absence of chronic diarrhea, the presence of juvenile cataract (especially bilateral fleck-like opacities), neurological symptoms in the family history, and consanguinity of the parents might be considerably helpful for the early diagnosis of cerebrotendinous xanthomatosis.