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Table 3 Imaging findings in the musculoskeletal system, central nervous system, and chest

From: Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review

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
  1. FMF familial Mediterranean fever; TRAPS tumor necrosis factor receptor-associated periodic syndrome; MKD mevalonate kinase deficiency; HIDS hyperimmunoglobulinemia D syndrome; NOMID neonatal onset multisystem inflammatory disease; MWS Muckle-Wells syndrome; PAPA pyogenic arthritis, pyoderma gangrenosum, and acne; DIRA deficiency of interleukin-1 receptor antagonist; DADA2 deficiency of adenosine deaminase type 2; IL10 def interleukin 10 deficiency; MAS macrophage activation syndrome; HA20 deficiency haploinsufficiency of A20; SIFD sideroblastic anemia with B cell immunodeficiency, periodic fever, and developmental delay; PAN polyarteritis nodosa; GI gastrointestinal; GU genitourinary; MTP metatarsophalangeal; CT computed tomography; TORCH toxoplasmosis, other (syphilis, varicella-zoster, parvovirus B19), rubella, cytomegalovirus (CMV), and herpes infections; TMJ temporomandibular joint; MCPJ metacarpophalangeal joint; PIP proximal interphalangeal joint; MSK musculoskeletal; CNS central nervous system