ABR Core Exam: Multisystemic Diseases Part 3
Part 3 of my review of selected multisystemic diseases for the ABR core exam. A free downloadable study guide summary of these diseases is located on this website under “Study Guides”.
Study Guide/Show Notes:
Caroli’s disease: Highest yield fact(s): Autosomal recessive. Todani type 5 choledochal cyst with segmental cystic dilation of purely intrahepatic bile ducts. Look for central dot sign with central enhancement due to contrast in portal radicals surrounded by cystic bile ducts. Bile stasis can cause secondary pyogenic cholangitis and intrahepatic abscess, may present in young adulthood with right upper quadrant pain, fever, and jaundice. Other: High association with polycystic kidney disease (autosomal dominant and recessive) and medullary sponge kidney.
Typhlitis: Highest yield fact(s): Neutropenic colitis with marked cecum/TI thickening in setting of HIV/chemotherapy/immunosuppression from transplant, etc. If tested, they will give you clinical history to clue you towards presence of immunosuppression/malignancy such as leukemia/lymphoma. Other: High risk of perforation if perform colonoscopy or barium enema. This can have multisystemic imaging manifestations in terms of the primary disease process (lymphoma, organ transplant) and secondary typhlitis.
Castleman’s disease / giant lymph node hyperplasia: Highest yield fact(s): In adults 30s to 40s with typically large but benign mediastinal lymph adenopathy, adenopathy more common in chest than in abdomen/neck. HIV risk factor, more common in males. Other: Can be localized or systemic. If systemic may have hepatosplenomegaly and ascites.
Lymphangioleiomyomatosis (LAM): Highest yield fact(s): Cystic lung disease with thin-walled cysts uniformly throughout both lungs with often normal surrounding lung parenchyma. Association with tuberous sclerosis. Chylothorax and recurrent pneumothorax. Other: Renal angiomyolipomas, chylous ascites, cystic hygroma in neck, abdominal lymphadenopathy (Can be massive) and multifocal bone osteolysis.
Rosai-Dorfman disease / Sinus histiocytosis with massive lymphadenopathy. Highest yield fact(s): Often presents like lymphoma with lymphadenopathy and B symptoms. Cervical lymphadenopathy most common but can be seen throughout chest, abdomen, pelvis. Other: can have mass-like meningeal involvement, high uptake with FDG-PET, can have lung nodules, orbital involvement.
Erdheim Chester disease: Highest yield fact(s): non-familial histiocytosis, systemic lipogranulomatous disease. Most commonly presents with MSK findings and bone pain with cortical thickening of long bones that spares the axial skeleton. Hairy kidney sign: bilateral perirenal soft tissue infiltration. Cystic lung disease. Other: Soft tissue infiltration can occur at many sites throughout body so many other findings possible. Can be retroorbital, can cause diabetes insipidus due to pituitary infundibulum involvement, can have retroperitoneal fibrosis.
