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Primrose syndrome consists of cognitive and motor delay, characteristic facial dysmorphism with enlarged and calcified external ears, cataracts, hearing impairment, spastic paraparesis with joint contractures, and distal muscle wasting. To our knowledge, only 5 cases have been reported in the literature.1–5 We report the sixth case and only the second woman to fulfill all clinical elements of Primrose syndrome, who, in addition, manifested motor tics, hand stereotypies, and self-flagellating behaviors. This patient remained undiagnosed for over 4 decades.
Case report.
A 43-year-old woman, the product of a normal vaginal delivery and negative neurologic family history, was born with congenital heart disease (Ebstein malformation, mitral valve prolapse), congenital hip dysplasia, and agenesis of the corpus callosum. In early childhood, she was found to have hearing impairment, cataracts, a nondescript neoplasm of the bone in the palate, ossification of cartilage, cystic changes in bones, diabetes mellitus, and hypothyroidism. Walking began at the age of 6 years. The limited repertoire of her language included “mommy,” “daddy,” “bye-bye,” and “go to school,” before she lost vocalization altogether in her late 30s. She attended special education for about 18 years and worked at putting bakery projects together for several years thereafter. She had been able to run and roller skate before her gait deteriorated. She slowly lost the ability to ambulate independently. At age 35, she started using a walker, and by age 40 needed …
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