Patient with two rare diseases—Renal coloboma syndrome and craniopharyngioma

Renal coloboma syndrome (RCS), also known as papillorenal syndrome, is a rare inherited condition caused by PAX2 mutations and typically affects both the eyes and kidneys, while craniopharyngioma is a rare brain tumor of childhood that often grows slowly but can cause significant local compression. We report the case of a 13-year-old Latvian girl who was diagnosed with both conditions, representing an uncommon overlap of a congenital genetic syndrome and an acquired intracranial tumor. She initially presented with long-standing visual impairment related to congenital optic nerve abnormalities and was later found to have a calcified sellar–suprasellar mass consistent with craniopharyngioma, which contributed to progressive optic pathway compression and neurological symptoms. Genetic testing confirmed a pathogenic PAX2 mutation (c.76dup, p.(Val26Glyfs*28)). This case illustrates how pre-existing congenital eye disease can obscure the recognition of a developing brain tumor and highlights the importance of correlating imaging findings with the broader clinical and genetic context. It also underlines the need for coordinated, multidisciplinary care and careful long-term follow-up in patients with rare overlapping conditions.