Disease | Imaging findings | ||
---|---|---|---|
MSK | CNS | Chest | |
FMF | Bilateral sacroiliitis | None | None |
TRAPS | None | None | None |
MKD/HIDS | None | None | None |
NOMID | • Small bilateral knee effusions with synovitis • T6 osteoporotic compression fracture • dysmorphic vertebra | MRI: • Subtle enhancement of vestibular nerves • Macrocephaly • Absent bight posterior pit • Bilateral papilledema • Prominent ventricular and supratentorial CSF spaces • Thin left cerebral convexity subdural collection with pachymeningeal enhancement | None |
MWS | None | MRI brain: • Non-specific FLAIR signal in the left centrum Semiovale • Empty sella • Tiny right cerebellar hemisphere focus of bleed or calcification. | None |
PAPA | • Growth recovery lines • Right knee: small effusion, extensive synovitis • TMJ: chronic inactive right TMJ arthritis • Right elbow: joint effusion with fluid collection • Hand MRI septic arthritis of the 4th MCPJ with osteomyelitis and adjacent fluid collection at the dorsum of the hand. • Right elbow X-ray: effusion with synovial thickening and enhancement with abscess extending from the joint into the soft tissue anteromedially | None | None |
Blau syndrome | • Knee radiographs: effusion and ST swelling around the knees • Ankles and hands, MRI wrists: bilateral tenosynovitis of the extensors and bone edema of the phalangese and metacarpals- improvement after anti-TNF, then worsening, then improvement after Humira and MTX with longitudinal split tear of the extensor carpi-ulnaris, follow up stable minimal synovitis and tenosynovitis- no erosions | None | None |
DIRA | • Chest radiographs and CT: chest deformity with multiple bone lesions • Mandible: left lytic lesion • Bone scan: multiple areas of increased uptake, • Hand radiographs: multiple bilateral metaphyseal lytic lesions with cortical thinning and distal phalangeal soft tissue thickening • Heterotopic ossification of the proximal right femur | Brain CT and MRI: posterior circulation parenchymal changes representing ischemia, can be cyclosporin induced (treatment related) | CT chest: • Chronic lung changes (alveolar and interstitial) • Worsening heart disease and pulmonary edema |
DADA2 | None | MRI brain: • left thalamic infarct- gliosis- recurrent areas of diffusion restriction • Abnormal enhancement of the right intraconal orbital nerve | None |
IL10 deficiency | Skeletal survey: delayed maturation-otherwise normal | • US brain at 20 days of life: right parietal subdural collection with meningeal thickening • hematoma on MRI | None |
NLRC4-MAS | • Right hip effusion on ultrasound • Delayed skeletal maturation | Brain MRI: focal right cerebellar astrogliosis with widened folia, related to old insult | None |
HA20 deficiency | • Osteopenia • Delayed skeletal maturation. • Feet radiographs: 1st MTP joint narrowing, dystrophic calcifications along the tendons of previous injections • Radiographs, CT and MRI of the feet and ankles: bilateral asymmetrical tibiotalar, subtalar and intertarsal arthritis changes with degenerative changes of the right subtalar joint, tenosynovitis and retrocalceneal bursistis | None | None |
SIFD | Skeletal survey: growth recovery lines | MRI brain: pachymeningeal enahnecment of porus acousticus | None |
Aicardi-Goutieres syndrome | • Spine radiographs: thoracic kyphosis- no scheuermann's disorder • Hands: soft tissue swelling around the right 2, 3, 4 and left 3,4 PIPs. • Delayed skeletal maturation | None | None |