Meretoja syndrome

Overview

Meretoja syndrome: A form of familial amyloid polyneuropathy characterized by deposits of a substance called amyloid in the skin on the face as well as the facial nerves which can cause symptoms such as weak facial muscles

Symptoms

Cranial neuropathy Facial palsy Corneal lattice degeneration

Causes

Amyloidosis is sometimes familial, especially in people of Portuguese ancestry. It may occur in conjunction with tuberculosis, chronic infection, rheumatoid arthritis, multiple myeloma, Hodgkin’s disease, paraplegia, and brucellosis. It may also accompany Alzheimer’s disease. In amyloidosis, accumulation and infiltration of amyloid produces pressure and causes atrophy of nearby cells. Reticuloendothelial cell dysfunction and abnormal immunoglobulin synthesis occur in some types of amyloidosis. In the United States, evidence of amyloidosis on autopsy is 0.5%, but true incidence is difficult to determine