Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures

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Objectives: (CSA), often clinically overlaps with cerebral palsy (CP), leading to misdiagnosis. This study evaluates the role of genetic testing in differential diagnosis, examines hepatic dysfunction as a biomarker of disease severity, and delineates clinical characteristics of CSA-related CS. Methods: A retrospective case series of eight CSA-related CS patients was conducted. Clinical data, neuroimaging, genetic profiles, and hepatic function were analyzed. Disease severity was classified according to established CS subtypes (I-III). Results: variants, including exon deletions (Exon4; Exon6-12), a nonsense (c.856A>T), frameshift (c.394_398del), and splice-site (c.618-2A>G) variant, confirming autosomal recessive inheritance (compound heterozygous/homozygous). Subtype distribution included CS I (n = 5), CS II (n = 2), and CS III (n = 1). CS II cases exhibited earlier diagnosis and classic CS features. Hepatic dysfunction correlated with disease severity, worsening with progression. Achilles tendon contractures developed in all patients; systematic rehabilitation (n = 5) significantly reduced contracture severity compared to non-rehabilitated cases (n = 3). Two patients displayed anhidrosis, a rarely reported dermatological manifestation. Conclusion: Genetic testing is essential to differentiate CSA-related CS from CP. Hepatic dysfunction serves as a biomarker for disease progression, warranting routine monitoring. Rehabilitation therapy mitigates Achilles tendon contractures, underscoring its clinical value. This study expands the phenotypic spectrum of CSA-related CS by identifying anhidrosis as a rarely reported feature, providing insights for diagnosis and management.

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