Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in Proteus syndrome.

Abstract

Because clinical evidence suggests that Proteus syndrome may be caused by a somatic mutation during early development, resulting in mosaicism, the possible types of abnormalities and their clinical distributions are highly variable. Here, we report on an unusual patient with Proteus syndrome. Manifestations included multiple meningiomas, polymicrogyria, and periventricular heterotopias. Both eyes had epibulbar cystic lesions. The retina showed diffuse disorganization with nodular gliosis, retinal pigmentary abnormalities, chronic papilledema, and optic atrophy. Other abnormalities included progressive cranial, mandibular, maxillary, and auditory canal hyperostoses, epidermal nevi, and mental deficiency. The limbs were proportionate, and the hands and feet were normal.

• Authors: E Gilbert-Barness, M M Cohen Jr, J M Opitz
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 93 Issue 3 Pg. 234-40 (Jul 31 2000) ISSN: 0148-7299 [Print] United States
• PMID: 10925389 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Bone and Bones (abnormalities, pathology)
• Craniofacial Abnormalities (diagnosis, genetics, pathology)
• Facies
• Fatal Outcome
• Female
• Humans
• Hyperostosis (diagnosis, genetics, pathology)
• Meningioma (diagnosis, genetics, pathology)
• Mutation
• Phenotype
• Proteus Syndrome (diagnosis, genetics, pathology)
• Retina (abnormalities, pathology)