New case of Primrose syndrome with mild intellectual disability

Abstract

We report on a 27-year-old man, who represents the sixth and the youngest published case of Primrose syndrome. Primrose syndrome (PS) (OMIM#295090) is an extremely rare entity of unknown etiology characterized by the progressive wasting of distal muscles of the legs, the small muscles of the hands resulting in contractures, the presence of intellectual disability, hearing problems, cataracts, brain calcification, and the ossification of ear cartilage. All the main manifestations were present in our patient. Despite the phenotypic similarity to five other cases, our patient had mild intellectual disability. Additionally we found hypergonadotropic hypogonadism and a low bone density due to progressive osteoporosis. We discuss our observations in relation to previously published cases, and we stress the need for the detail and phenotypic descriptions of further cases as PS remains rare, and the genetic basis is still undiscovered.