Case presentation

History and diagnosis

A 10-year-old boy of non-consanguineous parentage presented with a two-year history of progressive gait deterioration. Cutaneous photosensitivity noted at four months of age prompted genetic evaluation and a diagnosis of CS. A sister with the same diagnosis died at age five from leukemia-associated complications, consistent with the genomic instability reported with specific ERCC6 variants [3, 7].

Genetic analysis

Molecular testing identified two pathogenic ERCC6 variants, one inherited from each parent, confirming a compound heterozygous state consistent with CS type B. Two siblings were confirmed heterozygous carriers; one carried wild-type alleles at both loci [3].

Clinical progression and examination

At age eight, the patient developed a waddling gait; physiotherapy compliance was inconsistent, and progressive spasticity culminated in the complete loss of ambulation by age ten, with severe rigid bilateral equinovarus deformity (Fig. 1). Anthropometric parameters were below the third percentile, consistent with the growth failure and microcephaly characteristic of CS [1]. Findings included dysmorphic facial features, bilateral Achilles tendon rigidity, spasticity with hyperreflexia, mild axial hypotonia, a hand tremor, and intellectual disability. Gastrointestinal symptoms included constipation, abdominal pain, and oropharyngeal dysphagia.

Figure 1: Severe rigid bilateral equinovarus deformity at presentation, demonstrating marked plantar flexion, hindfoot varus, and forefoot adduction of both feet.

Perioperative hepatic concern

Preoperative biochemistry revealed markedly elevated liver transaminases (ALT 682 U/L; AST 183 U/L), a recognized but infrequently detailed complication of CS attributed to impaired TC-NER in hepatocytes [6]. This prompted a formal multidisciplinary review—hepatology, anesthesiology, and orthopedic surgery—to stratify perioperative hepatic risk.

Surgical procedure and perioperative management

Surgery was indicated given the severity and rigidity of the deformity, the failure of a two-year course of physiotherapy, and the patient’s inability to tolerate orthotic devices. Following multidisciplinary consensus, the patient underwent bilateral fractional ETA. Hepatotoxic agents, including metronidazole, were strictly avoided; volatile anesthetic agents with favorable hepatic safety profiles were selected; and sedative and opioid doses were titrated conservatively with enhanced monitoring [6]. Adequate elongation was confirmed intraoperatively by achieving passive ankle dorsiflexion to neutral with the knee in full extension. The intraoperative and postoperative course was uneventful, and the patient was discharged the following day with oral analgesics and prophylactic antibiotics.

Post-operative management and outcome

The patient was immobilized in bilateral below-knee casts for six weeks, then transitioned to bilateral ankle-foot orthoses to maintain correction and support rehabilitation. At the six-month follow-up, the patient was able to stand with support and remained engaged in structured physiotherapy; independent ambulation had not yet been achieved but remained the ongoing rehabilitation goal.