Discussion

This report describes the first detailed account of the surgical correction of a severe rigid bilateral equinovarus deformity in CS type B with concomitant hepatic dysfunction, providing a reproducible perioperative framework for orthopedic surgeons.

The equinovarus deformity in CS is not a primary skeletal malformation but a secondary consequence of progressive spasticity and leukodystrophy [4, 8]. Demyelination and axonal loss in the corticospinal tracts produce a chronic upper motor neuron pattern of neuromuscular imbalance, with the triceps surae overpowering its antagonists, producing a fixed Achilles tendon contracture. This complication is likely underreported in CS [4].

Fractional ETA is the standard of care for fixed equinus deformity in neurologically impaired children when conservative measures fail [9, 10], restoring the dorsiflexion range, correcting gait biomechanics, and permitting orthotic fitting [10]. In our patient, a two-year trial of physiotherapy produced no improvement and the contracture precluded orthotic tolerance, making surgery both indicated and urgent.

The markedly elevated transaminases represented the principal perioperative risk, likely reflecting accumulated oxidative DNA damage in metabolically active hepatocytes [6, 7]. Khawaja and Tobias previously reported the perioperative management of a CS patient undergoing bilateral clubfoot correction, noting a heightened risk of anesthetic-related hepatotoxicity [6]. Our case extends this experience, showing that safe surgical correction is achievable even with substantially elevated transaminases when hepatotoxic agents are avoided, anesthetic dosing is conservatively titrated, and decisions follow a formal multidisciplinary review. Al Kaissi et al. [4] similarly noted that orthopedic deformities in CS may be underrecognized; our findings extend this to an older, more compromised patient.

Genetic counseling is integral to care: the delineation of mutations, carrier status, and genotype–phenotype correlations—illustrated by the sister’s leukemia-associated death—informs realistic family expectations [3, 7]. Continuous orthopedic surveillance is warranted, as recurrent contractures and new joint deformities are expected even after successful surgery [1].

The principal limitations of this report are its single-case design and the absence of long-term follow-up beyond six months; multi-center case series are needed to establish evidence-based orthopedic management guidelines for CS.