Cerebrotendinous xanthomatosis - The spectrum of imaging findings

Authors

  • Arunachalam Pudhiavan
  • Alka Agrawal
  • Sangit Chaudhari
  • Anil Shukla

DOI:

https://doi.org/10.3941/jrcr.v7i4.1338

Keywords:

Cerebrotendinous xanthomatosis, CTX, Cholestanol, CYP27A1, Chenodeoxycholic acid

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.

Author Biographies

Arunachalam Pudhiavan

Junior Resident,

Department of Radiodiagnosis,

M.G.M.M.C. & M.Y. Hospital, Indore - 452001

India

Alka Agrawal

Associate Professor

Department of Radiodiagnosis

MGMMC & MYH, Indore - 452001

India

Sangit Chaudhari

Senior Consultant

S.R.L. diagnostics,

M.Y. Hospital campus, Indore - 452001

India

Anil Shukla

Junior Resident

Department of Radiodiagnosis

M.G.M.M.C. & M.Y. Hospital, Indore - 452001

India

Published

2013-04-19

Issue

Section

Neuroradiology