Dados do Trabalho

Título

ALL YOU NEED TO KNOW ABOUT GAUCHER DISEASE

Introdução

Gaucher disease (GD) is one of the most common lysosomal disorders with an overall frequency of one in 40,000 newborns worldwide ; it is caused by deficient activity of GBA1-coded lysosomal glucocerebrosidase (acid beta-glucosidase), which leads to a building up of glucocerebroside in macrophages thereby known as “Gaucher cells”. Accumulation inside the macrophages causes malfunction and shifts their activation profile, ultimately leading to systemic inflammatory response and symptoms such as hepatosplenomegaly, thrombocytopenia, osteonecrosis, and, in some patients, neurological deficits.
The aim of this study is to demonstrate the most relevant findings present in Gaucher Disease.

Descrição

Methods:
The work developed followed the precepts of the exploratory study, through a pictorial essay based on scientific articles on the subject accessed in national and international databases, with illustrations of cases from a tertiary hospital in Porto Alegre.
Discussion and Conclusion:
In plain radiographic skeletal involvement is seen in 70-100% of patients and primarily involves long bones (tibia, humerus, femur) as well as vertebrae. Ribs, hands and wrists, ankles and feet, and mandible may also be involved.
In MRI common findings are massive splenomegaly, splenic nodules (30%), splenic infarcts (33%), hepatomegaly: less marked than the degree of splenomegaly, with hyperintense stellate areas representing inflammation and fibrosis in T2. The semiquantitative bone marrow burden (BMB) scoring is based on MRI characteristics of the peripheral skeletal (femurs) and axial skeletal (lumbar spine).skeletal system long bones are most severely affected reduced T1 and T2 signal from involved bone marrow (due to infiltration of Gaucher cells) bone marrow burden (BMB) score may be obtained from MRI images 4 may give a "salt and pepper pattern" due to scattered involvement features of superimposed osteonecrosis metaphyseal notching of humeri pathological fractures Erlenmeyer flask deformity

Palavras Chave

GAUCHER DISEASE, RADIOGRAPHIC FEATURES, PLAIN RADIOGRAPH, MAGNETIC RESONANCE IMAGING, COMPUTERIZED TOMOGRAPHY.