Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report.

ABSTRACT:

Background

Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae.

Case presentation

We present a case of a 25-year-old Asian Indian woman who presented with gait difficulty, fusiform swellings of bilateral tendo-Achilles and infrapatellar tendons, along with history of bilateral cataract surgery 1 year earlier. The diagnosis was made on the basis of clinical, biochemical, imaging, and histopathological analysis and replacement therapy was started.

Conclusions

The peculiarity

SUBMITTER: Razi SM 

PROVIDER: S-EPMC4837582 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature