Cerebrotendinous xanthomatosis (CTX) is a rare genetic metabolic disorder that inherited in an autosomal recessive trait; characterized by abnormal lipid storage. CTX is characterized by infantile or early childhood onset of chronic diarrhea, tendon xanthomas (especially in the achilles tendon), cataracts, and neurological symptoms such as cognitive impairment, pyramidal, extrapyramidal and cerebellar signs, seizures, peripheral neuropathy that appear in the second or third decades of life. A thirty-nine years old Turkish female patient admitted to the Neurology outpatient clinic with the complaint of increasing dizziness and walking difficulty in recent years. She had an operation for both achilles tendon xanthomas and juvenile cataract. Her neurological symptoms and cranial magnetic resonance imaging (MRI) findings were consistent with cerebrotendinous xanthomatosis. A novel homozygous splicing site mutation (IVS8+2T>C, c.1476+2T>C, NM_000784.3) in CYP27A1 gene was detected. This is the first CTX related mutation reported in the literature.
Key words: Cerebrotendinous xanthomatosis (CTX); CYP27A1; cholestenol; novel mutation
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