xanthomatosis cerebrotendinous/seizures

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Epileptic seizure as a presenting symptom of cerebrotendinous xanthomatosis.

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Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease characterized by xanthomata of tendons, osteoporosis, cataracts, cerebellar ataxia, spastic paresis, and dementia. Though electroencephalographic (EEG) abnormalities are frequent in CTX, epileptic seizures have not been recognized as

[A case of cerebrotendinous xanthomatosis with convulsive seizures].

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A 35 year-old male was admitted to our hospital because of convulsive seizures. His parents are first cousins. No other members of his family have similar symptoms. He showed mental retardation since childhood. At age 14, he had generalized convulsive seizures that were intractable. Bilateral

Cerebrotendinous xanthomatosis: clinical and biochemical evaluation of eight patients and review of the literature.

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We present the clinical and laboratory findings of 8 patients with cerebrotendinous xanthomatosis. The clinical features consisted of a combination of bilateral Achilles tendon xanthomas, cataracts, low intelligence, pyramidal signs, cerebellar signs, convulsions, peripheral neuropathy, foot

Cerebrotendinous xanthomatosis: a rare genetic disorder.

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A 32-year-old male patient presented with uncontrolled convulsions to the emergency room. He had epilepsy since childhood and was on tablet phenytoin sodium 100 mg three times a day. However, on detailed history elicitation and clinical examination, he was found to have a constellation of findings.

Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

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Cerebrotendinous xanthomatosis (CTX, MIM 213700) is a rare autosomal recessive lipid storage disorder caused by CYP27A1 mutations. Treatment with chenodeoxycholic acid (CDCA) may slow the progression of the disease and reverse some symptoms in a proportion of patients. In a non-consanguineous

Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.

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We present a two-week old girl who was diagnosed with cerebrotendinous xanthomatosis (CTX), an inborn error of bile acid synthesis, after a diagnostic workup for convulsions which were shown to be caused by a parechovirus encephalitis. The diagnosis of CTX was confirmed with CYP27A1 mutation

A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.

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Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological

[Parkinsonism associated with cerebrotendinous xanthomatosis].

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Two sibling cases of cerebrotendinous xanthomatosis with parkinsonism were reported. One was a woman of 39 years old, and another was her sister of 36 years old. In both cases, febrile convulsion appeared on 1.5 year old, and mental deterioration, ataxic -spastic gait, cataract and swelling of

[A case of cerebrotendinous xanthomatosis with spastic paraparesis, epilepsy, and bradykinesia].

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A 26-year-old female developed mental deterioration, general convulsion, cataract and spastic gait in order since her entrance into elementary school. A diagnosis of cerebrotendinous xanthomatosis (CTX) was made because of hypercholestanolemia. At the time of admission, cataract, a mild thickening

Cerebrotendinous xanthomatosis.

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Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disorder affecting the biosynthetic pathway of bile acids, leading to increased cholestanol formation and its accumulation in various tissues. Patients can present with tendon xanthomas, gait abnormalities, osteoporosis with

Cerebrotendinous xanthomatosis: case report with evidence of oxidative stress.

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Cerebrotendinous xanthomatosis is an autosomal recessive disorder of bile acid synthesis, characterized by mutation in the mitochondrial enzyme 27-hydroxylase that leads to an accumulation of cholestanol and cholesterol. Characterized clinically by premature bilateral cataracts, slowly progressive

Pathophysiology of cerebrotendinous xanthomatosis.

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Cerebrotendinous xanthomatosis (CTX) is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene, which lead to deficiency of the mitochondrial enzyme, sterol 27-hydroxylase, resulting in the accumulation of cholestanol in the serum and many affected lesions. To date,

Cerebrotendinous xanthomatosis: a treatable neurodegenerative disease.

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Cerebrotendinous xanthomatosis is one of the rare forms of treatable hereditary neurodegenerative disorders. It is due to a defect in hydroxylation of cholesterol side chain that impairs oxidative cleavage of cholesterol leading to excess accumulation of cholesterol. Here we present such a case

Cerebrotendinous xanthomatosis associated with immune thrombocytopenia.

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Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease inherited in a autosomal recessive way. CTX is characterised by childhood-onset cataract, adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (dementia, psychiatric disturbances,

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.

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Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pathogenic mutations in the CYP27A1 gene. Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. In this study, we report 7 Turkish CTX patients who

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