To analyze a case of cerebrotendinous xanthomatosis (CTX) in Peru

Cerebrotendinous xanthomatosis (CTX), an autosomal recessive lipid storage disease, is characterized by various systemic and neurological symptoms, including chronic diarrhea, juvenile cataracts, tendon xanthomas, and developmental delay.

Systemic and neurologic symptoms, Medical imaging, Biochemical study were carried out to analyze the patient. The biochemical diagnosis was developed for Department of Chemical Physiology & Biochemistry, Oregon Health & Science University (the methods was Addition of 7alpha,12,alpha-dihydroxy-4-cholesten-3-one(7a12aC4)-d9 method internal standard in methanol to sample and derivatization as previously described. Isotope-dilution quantification was performed using positive-mode LC-ESI-MS/MS multiple reaction monitoring of 7a12aC4 (m/z 531.7>152.1) and internal standard (m/z 440.7>152.1) with a reversed-phase gradient utilizing a 2.1x50mm Biphenyl (2.6 µm)column).

We report a 49-year-old man, with no relevant family history, who exhibited learning difficulty since age of 7, later on- since age of 39- he developed progressive gait disturbance. Neurological examination at age 48 demonstrated cerebellar ataxia, scanning speech, brisk tendon reflexes, enlarged Achilles tendons with subcutaneous mass and bilateral cataracts.. Neuropsychological profile showed moderate cognitive compromise with marked difficulties in language and short-term auditory and visual memory. Brain MRI revealed global cerebellar atrophy and bilateral hyperintensities in the dentate nuclei. Serum cholestanol level was high (951 ng/ml; VN: <25ng/ml) compatible with with bioquemical diagnosis of cerebrotendinous xanthomatosis.

We report a Peruvian CTX case with diagnosis made in late adulthood. Early diagnosis and long-term treatment with chenodeoxycholic acid can slow down neurological symptoms progression, unfortunately this drug is not available in Peru, therefore currently our patient is treated with Atorvastatin.