Primrose Syndrome - Cases

Cases

There have been very few reported cases of Primrose syndrome worldwide. The first known case was described by D.A. Primrose in 1982. The patient was a 33-year-old mentally retarded male whose outer ears had ossified. Additional symptoms included muscle atrophy in the legs and hands, deafness, cataracts, and a tissue mass covering the roof of his mouth.

In 1986, Calacott et al. described a mentally handicapped patient whose pinnae had ossified. The patient also experienced deafness, cataracts, skeletal deformities, and muscle atrophy. As the second reported case of such symptoms, it suggested that these symptoms were part of one entity, named "Primrose syndrome"

In 1996, Lindor et al. reported a 43-year-old male patient with schizophrenia, as well as other neurological disorders, and severe pinnae calcification. Additional symptoms included hearing loss, stiffened joints, and facial deformities.

In 2006, Mathijssen et al. described an adult male mentally retarded patient who had calcified pinnae and a neoplasm of the palate. The patient also had extensive hearing loss, little to no body hair, distorted facial features, and joint contractures. The patient also developed testicular cancer, but it is unknown whether or not it is related to the syndrome. The patient experienced cryptorchidism, a birth defect where one of the testes is not present at birth, that may have played a part in the formation of the tumor.

In 2010, another similar case was studied extensively by Dalal et al. The patient was a mentally retarded 43-year-old woman who had hearing impairment, distorted facial features, muscle atrophy, cataracts, and ossification of cartilage. Additionally, she was born with Ebstein malformation, a congenital heart defect, agenesis of the corpus callosum, and hip dysplasia. Other symptoms included hypothyroidism, diabetes, and muscle control problems. A brain MRI showed that her basal ganglia had partially calcified, which may have contributed to her paraparesis and motor tics.