Cerebrotendinous Xanthomatosis (CTX; OMIM #213700) is a rare lipid storage metabolic disease with autosomal recessive inheritance. It is characterized by deficiency of mitochondrial sterol 27-hydroxylase (CYP27) which is a key enzyme in bile acid biosynthesis. The enzyme converts cholesterol into bile acids hence deficiency results in abnormal deposition of cholesterol and cholestenol in multip...

We present a rare case of multisite xanthomatosis occurring in a 38-year-old normocholesterolemic man without a familial history. More commonly, these conditions are associated with familial hypercholesterolemia and cerebrotendinous xanthomatosis. Tendon xanthomas should prompt clinicians to perform a thorough investigation of the patient's metabolic panel and family history. Rarely, these cond...

PURPOSE Cerebrotendinous xanthomatosis is a storage disease that usually leads to severe mental and neurologic deterioration before the diagnosis and start of treatment are established. We identified major ocular and systemic characteristics that may enable a diagnosis to be made earlier. METHODS Ten patients (group 1) of the University Hospital Nijmegen, with a diagnosis of cerebrotendinous ...

Brijesh P. Mehta, MD Robert H. Shmerling, MD A 57-year-old man with cerebrotendinous xanthomatosis (CTX) was admitted to the hospital after a fall. He had been diagnosed with CTX in his 30s and had had numerous complex-partial seizures, which occur in 50% of adult patients.1 Seizures were characterized by staring spells and speech deficits, occasionally generalizing to tonic-clonic leg movement...

Two unrelated individuals were referred to Lipid Clinics in The Netherlands and Chile with extreme xanthomatosis and hypercholesterolemia. Both were diagnosed with heterozygous familial hypercholesterolemia (heFH) after molecular genetic analysis of the low-density lipoprotein (LDL) receptor gene. Since heFH by itself could not account for the massive xanthomas, the presence of an additional he...