mannosidosis /man′ō·si·dō′sis/ , a lysosomal storage disease caused by an enzymatic defect in the metabolism of mannose-containing glycoproteins, resulting in accumulation of oligosaccharides. Characteristics include coarse facies, upper respiratory congestion and infections, profound cognitive deficits, hepatosplenomegaly, cataracts, radiographic signs of skeletal abnormalities, and gibbus deformity. Mannosidosis is divided into type I (infantile onset) and type II (juvenile-adult onset). A severe form manifested as prenatal loss or early death affects the central nervous system (type III). Also called alpha-mannosidosis. ▪ OBSERVATIONS: Characteristics include coarse facies, upper respiratory congestion and infections, profound cognitive deficits, hepatosplenomegaly, cataracts, radiographic signs of skeletal abnormalities, and gibbus deformity. ▪ INTERVENTIONS: Bone marrow transplant has been used with success in some children. Enzymatic treatments are in clinical trials. ▪ PATIENT CARE CONSIDERATIONS: Symptoms range from mild to severe. A coordinated approach by the health care team can increase the quality of life for the individual and family.
