Cerebrotendinous xanthomatosis - The spectrum of imaging findings

Abstract

Cerebrotendinous xanthomatosis (CTX), also known as Van Bogaert-Scherer-Epstein disease is a rare autosomal recessive genetic disorder of the lipid metabolism. To date, there are less than 300 cases reported worldwide. We present a case of a 30 year old male who presented with mental retardation and swelling of ankles, with the a spectrum of CTX imaging findings. Imaging studies were performed which included plain X-ray, Ultrasound(US) and Magnetic Resonance Imaging(MRI) of both the brain and ankles. These pointed towards the diagnosis of CTX with the entire spectrum of findings which was confirmed with biopsy and laboratory findings. CTX is a potentially treatable condition with replacement therapy, and hence early diagnosis before neurological deterioration is important. This is aided by the imaging findings which are conclusive forte diagnosis of CTX.

Cerebrotendınous Xanthomatosıs: A Case Report

“…1 Only about 300 cases reported worldwide up to the present. 2 In patients with CTX, cholesterol cannot be converted into bile acids (cholic acid and chenodeoxycholic acid) due to mutations in the gene CY27A1, which encodes the mitochondrial enzyme sterol 27-hydroxylase, but is instead converted into cholestanol and bile acid.…”

“…Radiological and biochemical findings are necessary in young patients with early disease signs, such as cataract or diarrhea 1,2 Magnetic resonans imaging of the brain shows focal/ diffuse white matter abnormalities and different degrees of cerebral and cerebellar atrophy in patients with CTX. 2 In our case, white matter abnormalities in MRI were determined. This finding was determined in 71-100% of patients with CTX.…”

“…However in advanced stage, the diagnosis of disease can be made by clinical and radiological evaluation, as in our case. 1,2 Xanthoms seen CTX can interfere with enthesitis related ankylosing spondylitis, rheumatoid nodules, musculoskeletal tumors. [2][3][4][5] In our case, the differential diagnosis in these disorders was made by serological and radiological evaluations.…”

“…3 When the literaturs are evaluated, it was determined that serum cholesterol levels in patients of CTX can be normal, low or high. [2][3][4] As a result high cholesterol and cholestenol levels is important in the diagnosis of CTX, but normal values does not rule out this disease. [2][3][4][5] Nevertheless it is lack of in our case that the serum cholestenol was not evaluated.…”

“…[2][3][4] As a result high cholesterol and cholestenol levels is important in the diagnosis of CTX, but normal values does not rule out this disease. [2][3][4][5] Nevertheless it is lack of in our case that the serum cholestenol was not evaluated. The clinical, biochemical and genetic findings is important determination of CTX in young patients with early disease signs, such as juvenile bilateral catarac.…”