Proteus syndrome with neurological manifestations: A rare presentation

Abstract

Proteus syndrome (PS) is an extremely rare and complex disorder. Approximately 200 cases have been reported, and it seems to affect people of all ethnic and racial groups. PS is characterized by segmental overgrowth of multiple tissues and organs including vascular malformations, lipomatous overgrowth, hyperpigmentation, and various types of nevi. We hereby present a 7-year-old boy who presented with seizures and overgrowth of one-half of the body. Although classical physical features have been described, epilepsy and other neurological manifestations are rarely reported features of PS. Early detection of association of epilepsy and hemimegalencephaly with PS can prevent/minimize the neurological complications, disability, morbidity, and mortality.

Síndrome de Proteus: Reporte de un caso y revisión de la literatura

“…3 A nivel neurológico se describe hemimegalencefalia, agenesia del cuerpo calloso, malformaciones arteriovenosas cerebrales, retraso mental, convulsiones y meningiomas. 6 En lo oftalmológico presentan estrabismo, nistagmus, colobomas, cataratas y tumores epibulbares, siendo frecuentemente subdiagnosticadas por ser oligosintomáticas. A nivel pulmonar pueden presentar malformaciones venosas y enfermedad bulosa, desarrollando complicaciones como tromboembolismo pulmonar (TEP) o ruptura de las várices hacia el espacio pleural o bronquios.…”