Bilateral Achilles Tendon Enlargement

Abstract

Cerebrotendinous xanthomatosis is a rare, autosomal-recessive, lipid-storage disease with accumulation of cholestanol in most tissues, particularly within the Achilles tendons. It has been characterized both clinically and biochemically, and recently from the molecular biological aspect as well. Juvenile cataract, childhood diarrhea, mental retardation, cerebellar ataxia, and tendon xanthomas are the most prominent features of this disease. Bilateral symmetrical firm masses of Achilles tendons may be the first symptom the patient recognizes because it can jeopardize his or her ability to walk. However, the treatment strategies for tendon tumors vary. In a recent case, we diagnosed the disease properly, according to the clinical manifestations and the radiological and laboratory examinations. The genetic mutation was characterized by analyzing sterol 27-hydroxylase from the patient's family (located on nucleotide 599) and led to a nonsense mutation. It is a unique type of mutation that has never been reported to our knowledge. Tendon lesions are characterized by the loss of muscle fibers and accumulation of lipid products. To help the patient regain the strength of the Achilles tendon and walking abilities, a large area of tendon tumor was excised, followed by reconstruction with a tibialis posterior allograft, which is the second strongest tendon in the foot and ankle. Although the use of this type of graft is uncommon, the final result was satisfactory. At the 10-month follow-up examination, the patient could walk easily without pain. This case report suggests that the surgical procedure will provide an alternative for the repair of large-area degenerative Achilles tendons.

Reconstruction of bilateral tendoachilles with fascia lata graft

“…[1213] Other differential diagnosis to be considered are ganglion, epidermal inclusion cyst, lipomas, rheumatoid nodule, xanthoma, hemangioma and neurofibromatosis. [5141516]…”

“…[2] This has also been reported in cerebrotendinous xanthomatosis (CTX). [345] CTX is a rare, autosomal recessive, lipid storage disorder characterized by accumulation of cholestanol and cholesterol, predominantly in the brain, spinal cord, peripheral nerves, tendons, lungs, liver and kidneys. [6] Infantile onset diarrhea, childhood onset cataract, adolescent to young adult onset tendon xanthoma and adult onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and cerebellar signs, dystonia, peripheral neuropathy and seizures) are the most prominent features of this disease.…”

Cerebrotendınous Xanthomatosıs: A Case Report

“…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.…”

“…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. Clinically, CTX resembles to familial hypercholesterolemia or hyperlipoproteinemia, but biochemical analysis reveals that these disorders contain high amounts of cholesterol.…”