| Description: |
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by progressive neurological and physical degeneration, including growth failure, photosensitivity, and ocular abnormalities. Common ocular manifestations include pigmentary retinopathy, optic atrophy, and cataracts. We report an additional phenotypic feature of bud-like digits associated with CS. A 23-year-old autistic male presented with complaints of difficulty seeing, particularly at night. Ocular examination revealed lagophthalmos, leading to exposure keratopathy, partial optic atrophy, and atypical retinitis pigmentosa. Visual acuity was significantly reduced. The patient had a history of developmental delay, seizure disorder, nephrotic syndrome, and sensorineural hearing loss. Physical examination highlighted short stature, sunken eyes, beak-shaped prominent nose, aged facial features, and notably, “bud-like” digits in the left hand. Molecular genetic analysis and sequencing confirmed homozygosity for Exon 12 deletion of the Excision repair cross-complementing group ( ERCC ) 8 gene on Chromosome 5, previously reported in patients with CS type A. Parental screening confirmed an autosomal recessive inheritance pattern. This case expands the phenotypic spectrum of CS, with the novel feature of bud-like digits. This rare physical manifestation, alongside typical ocular findings, underlines the importance of thorough clinical and genetic evaluation in atypical cases. By documenting this unique feature, this report adds to the limited literature on CS, potentially guiding future diagnostic and therapeutic approaches. |