De Sanctis- Cacchione Syndrome (DSC) is a rare, autosomal recessive, severe variant of xeroderma pigmentosum characterized by extreme photosensitivity, neurodegeneration, microcephaly, intellectual disability, sensorineural deafness, and hypogonadism. This case report describes a 10-year-old boy with typical features of DSC—progressive neurological deterioration, skin changes, developmental delay, and sensorineural deficits—but with intact gonadal function, which is uncommon.
Neuroimaging showed cerebral and cerebellar atrophy with hydrocephalus ex vacuo. This case highlights the clinical variability of DSC and underscores the importance of early recognition and supportive care in such progressive neurocutaneous syndromes.
