ABR Core Exam: Multisystemic Diseases Part 1
Part 1 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”.
ABR Core Exam: Multisystemic Diseases
Hadju Cheney syndrome: Highest yield fact(s): Acroosteolysis hands and feet. Familial condition, autosomal dominant. Other: Short stature, craniofacial abnormalities, wormian bones, polycystic kidneys, neuro symptoms.
Caisson disease: Highest yield fact(s): Deep see divers rise too quickly and develop embolization of nitrogen gas causing infarction of brain, spinal cord, and bones. Other: Spinal cord lesions more common than brain lesions. Treatment is hyperbaric oxygen therapy.
Riley-Day syndrome / Familial Dysautonomia: Highest yield fact(s): Congenital neuropathy causing neuropathic joints. Autosomal recessive. Other: Disease has many other manifestations from superimposed autonomic nervous system, motor, and sensory abnormalities. See skeletal changes and chronic pneumonia on imaging.
Behcet disease: Highest yield fact(s): Recurrent orogenital ulcers, uveitis. Look for GI ulcers and vascular abnormalities. Other: Can see dural sinus thrombosis, cerebral arterial aneurysm/occlusion/dissection, pulmonary aneurysms.
Still’s disease / juvenile idiopathic arthritis: Highest yield fact(s): most common pediatric chronic arthritis. Other: Large joints over small joints and cervical spine involvement. Look for erosions due to inflammatory arthritis. Can see pleural/pericardial effusions and hepatosplenomegaly.
Felty’s syndrome: Highest yield fact(s): triad of rheumatoid arthritis, splenomegaly, and neutropenia. Other: If see recurrent pulmonary infections in patient with RA, consider Felty syndrome (lung infection due to neutropenia).
Jaccoud’s arthropathy: Highest yield fact(s): Deforming arthritis most classically developing following rheumatic fever or systemic lupus erythematosis. Ulnar subluxation of 2nd to 5th MCP joints that is non-erosive and reducible. Other: If erosions are present think rheumatoid arthritis.
Morquio syndrome: Highest yield fact(s): Autosomal recessive mucopolysaccharidosis. Presents early in life (2-3 years old). Causes dwarfism with many MSK abnormalities. Expect cervical spine imaging showing anterior vertebral beaking, platyspondyly, odonotoid hypoplasia and atlantoaxial subluxation. Other: May show pelvic radiograph with flared iliac wings. May have recurrent pulmonary infection.
Pyknodysostosis: Highest yield fact(s): Autosomal recessive. Osteosclerosis. Dwarfism with micrognathia, straightening (obtuse angle) of mandible, finger agenesis that mimics acroosteolysis, underdeveloped mastoids and sinsuses, dense bones. Other: wormian bones, erosion distal clavicles.
Gaucher’s disease: Highest yield fact(s): Inherited lysosomal storage disorder with glucocerebrosidase deficiency, causes disturbance of reticuloendothelial cells and histiocytes. Affects bone marrow, spleen, and liver. Hepatosplenomegaly, iron overload, pancytopenia. Osteoporosis, lytic bone lesions, Erlenmeyer flask deformities, H-shaped vertebrae, osteonecrosis, pathological fractures.
