BraveCommunity.com is pleased to offer a series of interactive case studies for healthcare providers.
These case studies have been created by leading experts in the management of rare genetic disorders, and are based on real
cases.
Gaucher disease: Bone Imaging Tutorial
Bone involvement in Gaucher disease can include both trabecular and cortical bone compartments; it can affect bone geometry, bone density, the mineralization of bone, and bone marrow, and cause various complications. Learn about several modalities used to assess bone disease including the use of radiographic methods such as conventional radiography, dual-energy x-ray absorptiometry or DXA and quantitative computed tomography or QCT.
View Bone Imaging Tutorial
Ethan – Hunter syndrome
Learn about Ethan, a 6-year-old boy who was referred to his geneticist from an endocrinologist because of high
BMI, short stature and joint contractures. Ethan experiences developmental delay, behavioral problems, and skeletal
abnormalities.
Learn more about Ethan and Hunter syndrome
Luke – Sanfilippo syndrome
Learn about the difficult diagnosis of Sanfilippo syndrome (MPS III). Luke began exhibiting symptoms at 18 months, and after exhibiting increasingly difficult behavor and decreased mental development, his pediatrician referred Luke to a psychologist who felt there was a somatic cause for Luke's behavior and referred the family to a geneticist.
Learn more about Luke and Sanfilippo syndrome
Matthew – Gaucher disease: Therapeutic Goals
Learn about Matthew, a 36-year-old male who was diagnosed with Gaucher disease when a physical exam revealed a decreased platelet count. After being diagnosed, his physician reviewed his symptoms and developed a treatment plan based on the Gaucher Therapeutic Goals Assessment.
Learn more about Matthew and his Therapeutic Goals plan