No abstract available.
Magnetic Resonance Imaging* ; Xanthomatosis, Cerebrotendinous*

No abstract available.
Magnetic Resonance Imaging* ; Xanthomatosis, Cerebrotendinous*

No abstract available.
Cholestanol ; Spinal Cord* ; Xanthomatosis, Cerebrotendinous*

A xanthoma is a localized collection of tissue histiocytes containing lipid and is usually associated with hyperlipidemia. Tendinous and tuberous xanthomatosis have been found in association with familial hypercholesterolemia, Type III hyperlipidemia, beta-sitosterolemia and cerebrotendinous xanthomatosis. Tendinous and tuberous xanthomatosis without hyperlipidemia have been reported very rarely. Especially tendinous xanthomatosis without hyperlipidemia have not been reported at all in korea. We are reporting a patient with tendinous and tuberous xanthomatosis accompanied by normal plasma lipids
Histiocytes ; Humans ; Hyperlipidemias ; Hyperlipoproteinemia Type II ; Korea ; Plasma ; Xanthomatosis ; Xanthomatosis, Cerebrotendinous

Cerebrotendinous xanthomatosis is a rare, inherited lipid-storage disease clinically characterized by tendon xanthoma, progressive neurologic dysfunction(cerebellar ataxia, spinal cord involvement, mental retardation), premature atherosclerosis and cataracts. Substantial elevation of serum cholestanol and urinary bile alcohols with low to normal plasma cholesterol concentrations establishes the diagnosis. Up to now, there have not been any reported case of cerebrotendinous xanthomatosis in Korea. So, we report herein a 36-year-old Korean woman with the clinical features of cerebrotendinous xanthomatosis.
Adult ; Ataxia ; Atherosclerosis ; Cataract ; Cholestanol ; Cholestanols ; Cholesterol ; Diagnosis ; Female ; Humans ; Korea ; Plasma ; Spinal Cord ; Tendons ; Xanthomatosis ; Xanthomatosis, Cerebrotendinous*

Cerebrotendinous xanthomatosis(CTX) is a rare familial, autosomal disease which seems to be inherited as a Mendelian recessive. It was first described by van Bogaert et al, in 1937 and only about 30 cases have been reported in the literature. CTX is characterized by tendon xanthomas, bilateral juvenile cataracts, progressive dementia and cerebella ataxia. And deposition of cholestanol appears to be the primary lesion in this disease. We experienced a patient, 43-year-old man who sbowed bilateral cataracts, mold cerebellar dysfunction and multiple xanthomas, the tendinous xanthomatosis was confirmed pathologically and the brain CT scan abnormalities were correlated with neuropathologic findings of CTX. We performed extracapsular cataract extraction on both eyes with a significant improvement in corrected vision.
Adult ; Ataxia ; Brain ; Cataract ; Cataract Extraction ; Cerebellar Diseases ; Cholestanol ; Dementia ; Fungi ; Humans ; Tendons ; Tomography, X-Ray Computed ; Xanthomatosis ; Xanthomatosis, Cerebrotendinous*

Cerebrotendinous xanthomatosis(CTX) is a rare familial, autosomal disease which seems to be inherited as a Mendelian recessive. It was first described by van Bogaert et al, in 1937 and only about 30 cases have been reported in the literature. CTX is characterized by tendon xanthomas, bilateral juvenile cataracts, progressive dementia and cerebella ataxia. And deposition of cholestanol appears to be the primary lesion in this disease. We experienced a patient, 43-year-old man who sbowed bilateral cataracts, mold cerebellar dysfunction and multiple xanthomas, the tendinous xanthomatosis was confirmed pathologically and the brain CT scan abnormalities were correlated with neuropathologic findings of CTX. We performed extracapsular cataract extraction on both eyes with a significant improvement in corrected vision.
Adult ; Ataxia ; Brain ; Cataract ; Cataract Extraction ; Cerebellar Diseases ; Cholestanol ; Dementia ; Fungi ; Humans ; Tendons ; Tomography, X-Ray Computed ; Xanthomatosis ; Xanthomatosis, Cerebrotendinous*

Cerebrotendinous xanthomatosis is a very rare lipid storage disease which is inherited as autosomal recessive trait. The disease is due to an abnormality of cholesterol metabolism, in which excess formation of cholestanol and defect of bile acid synthesis were found. So abnormally high concentration of cholestanol is deposited within the nervous system, the tendons and the other tissues. But, the basic biochemical defect has not as yet been identified. Cerebrotendinous xanthomatosis is characterized by bilateral juvenile cataracts and tendinous xanthomas followed by progressive dementia and cerebellar ataxia. The condition progresses slowly. Death usually occurs during the sixth or seventh decade due to progressive pseudobulbar palsy. The authors have experienced and report a case of presumed cerebrotendinous xanthomatosis in 23-year-old Korean female, and the literatures were reviewed briefly.
Bile ; Cataract ; Cerebellar Ataxia ; Cholestanol ; Cholesterol ; Dementia ; Female ; Humans ; Metabolism ; Nervous System ; Pseudobulbar Palsy ; Tendons ; Xanthomatosis* ; Xanthomatosis, Cerebrotendinous ; Young Adult

Cerebrotendinous xanthomatosis is a rare autosomal recessive disease that involves multiple organs, including the peripheral nervous system. The present study is the first to report the ultrasonographic findings of peripheral nerves in a patient with cerebrotendinous xanthomatosis. The patient presented with bilateral Achilles tendon enlargement and foot hypesthesia. Sonographic examination revealed hypoechoic, swollen peripheral nerves with enlarged bilateral Achilles tendons. Since the ultrasonographic findings revealed peripheral involvement, the diagnosis of cerebrotendinous xanthomatosis was established after laboratory and genetic studies along with clinical findings.
Achilles Tendon ; Diagnosis ; Foot ; Humans ; Hypesthesia ; Peripheral Nerves ; Peripheral Nervous System ; Polyneuropathies* ; Ultrasonography* ; Xanthomatosis, Cerebrotendinous*

OBJECTIVETo analyze a case of cerebrotendinous xanthomatosis (CTX) with mental retardation as the initial neurological symptom.

METHODSMedical imaging, histopathological assay and genetic testing were carried out to analyze the patient.

RESULTSNeurological manifestations of the 27-year-old male patient were initiated by mental retardation and subsequently memory lapses, ataxia, spastic paraplegia and fuzzy language. Other symptoms included cataract, xanthomatosis in Achilles tendon, kidney stones and high arches. The total bile acid in serum has risen to 14.7 umol/L. There were symmetrical abnormal signals in bilateral cerebellar dentate nuclei, hypointensities on T1WI and DWI and mixed signals on T2WI. Cholesterol crystallization and cholesterol granulomatous inflammation were found upon pathological examination of the Achilles tendon. The patient was found to have carried a compound heterozygous mutation of the CTX gene, which consisted of two novel mutations including c.379C>T (p.Arg127Trp) in exon 2 and c.1174G>A (p.Glu392Lys) in exon 6 of the CYP27A1 gene.

CONCLUSIONClinicians should be alert to cerebrotendinous xanthomatosis when the patient has mental retardation caused by genetic and metabolic factors beginning at a young age, particularly accompanied with tendinous xanthomatosis and cataracts. CTX can be readily diagnosed by histopathological assay and sequencing of the CYP27A1 gene.

Adult ; Cholestanetriol 26-Monooxygenase ; genetics ; Humans ; Intellectual Disability ; etiology ; Male ; Xanthomatosis, Cerebrotendinous ; complications ; genetics