Radrev multisystemic diseases Flashcards
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.
Hadju Cheney syndrome inheritance pattern
AD
Acroosteolysis hands and feet. Short stature, craniofacial abnormalities, wormian bones, polycystic kidneys, neuro symptoms.
Hadju Cheney
Deep see divers rise too quickly and develop embolization of nitrogen gas causing infarction of brain, spinal cord and bones.
Caisson disease
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.
Caisson disease treatment
hyperbaric oxygen therapy
Riley-Day syndrome aka 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
Hadju Cheney
Deep sea diver
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 aka 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.
Congenital neuropathy causing neuropathic joints.
Riley-Day syndrom (Familial dysautonomia
autonomic nervous system, motor, and sensory abnormalities. See skeletal changes and chronic pneumonia on imaging.
riley-day syndrome (familial dysautonomia)
familial dysautonomia inheritence pattern
AR
: 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.
Behcet disease
Still’s disease
Highest yield fact(s): Juvenile idiopathic arthritis PLUS systemic findings including spiking fevers and migratory SALMON colored rash
In patients with systemic onset (also known as Still disease), intermittent spiking fevers are typically noted, which helps distinguish JIA from other diseases such as infection, other inflammatory diseases and malignancy. Migratory salmon colored light pink rash involving the trunk and/or extremities and hepatosplenomegaly are also frequently observed in patients with systemic onset.
Other: Large joints over small joints and cervical spine involvement. Look for erosions due to inflammatory arthritis. Can see pleural/pericardial effusions and hepatosplenomegaly.
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.
Still’s disease (Juvenile idiopathic arthritis)
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).
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).
Felty’s 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.
Morquio Syndrome
Jaccoud arthropathy = SLE
Ulnar subluxation of 2nd to 5th MCP joints that is non-erosive and reducible.
Hadju cheney
acro-oteolysis PLUS facial abnormalities
Felty syndrome
RA + big spleen (will also have neutropenia but we can’t see that unless they present with recurrent pneumonia or typhlitis)
patient with RA and recurrent pneumonia
Felty syndrome
recurrent pneumonia due to neutropenia
Still’s disease
Hurler syndrome (muccopolysarccaridosis)
Hurler syndrome (MPS IH) (a-c). a) Flaring iliac wings with distal tapering; capital femoral epiphyses are not dysplastic. b) Hypoplastic L2 vertebral body with dorsal gibbus maximized at this point; inferior beaking (hook shape) throughout the lumbar vertebral bodies; posterior scalloping of the vertebral bodies in the lumbar spine. c) Short metacarpals with tapering and converging of proximal ends; diaphyseal widening through the metacarpals and phalanges; distal radius and ulnar are inclined on their planes towards each other.
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.
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.
