Cerebrotendinous Xanthomatosis (CTX) is a rare, autosomal recessive, lipid storage disorder, characterized by accumulation of cholesterol and cholestanol, predominantly in the brain, spinal cord, peripheral nerves, tendons, lungs, liver and kidneys. The usual conundrum is an amalgam of the primary symptom, as mentioned above, along with features of cerebellar ataxia, juvenile cataract and subcutaneous swellings over tendons. Mental retardation is a very striking and prominent feature in this syndrome.
Prompt diagnosis is vital, as patients benefit from therapy with chenodeoxycholic acid and progress of the disease can be halted prior to irreversible neurological dysfunction.
This is our experience.…show more content… It started with one over each of his tendoachilles, 6 years ago, which later progressed to multiple firm non-tender swellings of varying sizes over his legs and hands. He was not able to progress beyond 6th grade because of his learning disability and was advised further evaluation of his condition. He had cataract surgery performed on his right eye 6 years ago for juvenile cataract.
On clinical examination, the swellings were firm, overlying tendons over the extremities (tendoachilles, patellar tendon, extensor aspect of digits and dorsum of hands and feet) and appeared to be arising from the tendons with free mobility over the underlying skin. Each swelling measured from a range between 3 x 4cms to 15 x 14cms in size.
