RESUMO
CASE REPORT: Congenital disfiguring malformations are rare and usually have a multifactorial aetiology. Here we report on the ocular manifestations seen in a patient with Proteus syndrome. The retina showed retinal dysgenesia, retinal pigmentary abnormalities and optic nerve hypoplasia. Other abnormalities included strabismus and high myopia. DISCUSSION: Proteus syndrome is a complex hamartomatous disorder defined by local overgrowth, subcutaneous tumours and various bone, cutaneous and/or vascular anomalies. The incidence of ocular malformations in Proteus syndrome is unknown, however a meticulous cranio-facial examination and a systematic study of the eye is required to improve the medical care of these patients.
Assuntos
Anormalidades do Olho/diagnóstico , Nervo Óptico/anormalidades , Síndrome de Proteu/diagnóstico , Retina/anormalidades , Diagnóstico Diferencial , Eletroencefalografia , Evolução Fatal , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Síndrome de Proteu/mortalidade , Pigmentos da RetinaRESUMO
Caso clínico: Las malformaciones congénitas deformantes son raras y tienen una etiología multifactorial. Presentamos las manifestaciones oculares de un caso clínico de Síndrome de Proteus. La retina mostraba una desorganización difusa, alteraciones pigmentarias e hipoplasia de nervio óptico. Otras alteraciones eran estrabismo y alta miopía. Discusión: El Síndrome de Proteus es un complejo trastorno hamartomatoso caracterizado por un crecimiento local exagerado, tumores subcutáneos y diversas malformaciones óseas, cutáneas y/o vasculares. La incidencia de las malformaciones oculares en el Síndrome de Proteus es desconocida, precisando un examen craneofacial minucioso y un estudio sistemático ocular en estrecha relación multidisciplinaria para mejorar la asistencia de estos pacientes (AU)
Case report: Congenital disfiguring malformations are rare and usually have a multifactorial aetiology. Here we report on the ocular manifestations seen in a patient with Proteus syndrome. The retina showed retinal dysgenesia, retinal pigmentary abnormalities and optic nerve hypoplasia. Other abnormalities included strabismus and high myopia. Discussion: Proteus syndrome is a complex hamartomatous disorder defined by local overgrowth, subcutaneous tumours and various bone, cutaneous and/or vascular anomalies. The incidence of ocular malformations in Proteus syndrome is unknown, however a meticulous cranio-facial examination and a systematic study of the eye is required to improve the medical care of these patients
