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Related Experiment Video

Updated: May 26, 2026

Measurement of Healthy and Injured Triceps Surae Morphology

Measurement of Healthy and Injured Triceps Surae Morphology

Published on: October 27, 2023

Bilateral Achilles tendon enlargement.

Lu Huang¹, Xu-dong Miao, Di-sheng Yang

¹Department of Orthopedics, 2nd Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

|December 8, 2011

Summary

This summary is machine-generated.

Cerebrotendinous xanthomatosis (CTX) is a rare lipid disorder causing Achilles tendon xanthomas. Surgical excision and tibialis posterior allograft reconstruction successfully restored walking ability in a unique CTX case.

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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.