Bilateral Achilles tendon enlargement

Area of Science:

• Biochemistry
• Genetics
• Orthopedic Surgery

Background:

• Cerebrotendinous xanthomatosis (CTX) is a rare autosomal-recessive lipid-storage disease characterized by cholestanol accumulation, particularly in Achilles tendons.
• Key clinical features include juvenile cataracts, diarrhea, intellectual disability, ataxia, and tendon xanthomas, impacting mobility.

Observation:

• A unique nonsense mutation in sterol 27-hydroxylase (at nucleotide 599) was identified in a patient with CTX.
• Tendon lesions showed muscle fiber loss and significant lipid product accumulation.

Findings:

• Surgical management involved excision of a large Achilles tendon tumor and reconstruction using a tibialis posterior allograft.
• This uncommon surgical approach yielded satisfactory results, with the patient regaining pain-free ambulation.

Implications:

• The described surgical technique offers a viable alternative for repairing extensive Achilles tendon degeneration caused by CTX.
• Early diagnosis and intervention are crucial for managing CTX and preserving patient function.