Objective: To identify patients with Cererotendenious xanthomatosis. To present the neurological spectrum of the disease.

Background: Cerebrotendenious xanthomatosis is a rare lipid storage disease due to mutation in one CYP 450 mitochondrial leading to accumulation of cholestanol In multiple tissues including the brain. Main clinical criteria are chronic diarrhea,  presenile cataracts,  tendinous xanthomas,  neurologic abnormalities. It can  can present at any age, from the neonatal period to the sixth decade of life or later.It is reversible if diagnosed and treated.

Method: 25 year old male patient presented with abnormal gait and recurrent falls, positive family history, together with delayed milestone, epilepsy and premature cataract.   Examination reveled: Subnormal mentality, bilateral cataract, scanning speech,ataxia in upper and lower limbs,weakness with hyporeflexia. ankle Xanthomas.

Results: MRI: T2 hyperintensity of the dentate nucleus and cerebellar white matter are seen, alongside cerebellar atrophy. Ill defined, symmetrical periventricular hyperintensity. EMG, NCV: Distal predominantly motor mixed axonal and demyelinating peripheral neuropathy affecting both lower limbs. DEXA Scan: Diffuse osteopenia mounting to osteoporosis.

Conclusion: Cerebrotendenious xanthomatosis is a rare disease that can present with extrapyramidal symptoms, it can be reversible if recognized and treated.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/abnormal-gait-in-cerebrotendenious-xanthomatosis-a-case-report/