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Table 5 System-based summary of imaging findings for previously reported patients with autoinflammatory diseases according to different imaging modalities

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

Disease Radiographs Ultrasound CT MRI
Musculoskeletal findings
FMF • Joint space narrowing
• Erosions
Joint effusion   • Myositis
• Arthritis
• Enthesitis
TRAPS   Joint effusion   • Joint effusion
• Myositis
• Fasciitis
MKD/HIDS Periarticular osteopenia    
NOMID Enlarged, mass like ossified growth plate
Widening of the non-ossified part of the physis, cupping and fraying of the metaphysis and resorption of the epiphysis.
   Heterogeneous signal with dark calcifications of the enlarged physis on T1- and T2-weighted images with mottled gadolinium enhancement at the physis
MWS Metaphyseal fraying and cupping and widening of the growth plate    Mottled enhancement of osteochondral junction
Blau • Non-erosive polyarthritis
• Dysplasia
Joint effusion   • Non-erosive polyarthritis
• Tenosynovitis
PAPA • Joint effusion
• Joint destruction
Joint effusion   “Similar to septic arthritis”
• Joint effusion
• Synovitis
• Chronic deforming changes
DIRA • Balloon-like widening of the anterior end of the ribs
• Multiple osteolytic lesions
• Periosteal elevation along multiple long bones
• Recurrent osteomyelitis
• Cervical vertebral fusion
• Widening of the clavicles
• Metaphyseal erosions of the long bones
  • Multiple osteolytic lesions
• Periosteal cloacking
• Heterotopic ossification of the proximal femurs
• Recurrent osteomyelitis
NLRC4-MAS   Joint effusion   Joint effusion
SIFD     
HA20 deficiency • Asymmetrical non-deforming polyarthritis with involvement of small and large joints    • Synovitis
• Tendonitis
IL10 def     
DADA2     
Aicardi-Goutieres syndrome • Joint contractures
• Acro-osteolysis
   
CNS findings
FMF     
TRAPS     
MKD/HIDS    Cerebellar atrophy Cerebellar atrophy
NOMID     • Meningeal enhancement
• Cochlear nerve enhancement
MWS     
Blau    Ischemic stroke
PAPA    Parenchymal changes related to vasculitis
DIRA    Parenchymal changes related to vasculitis
NLRC4-MAS    • Volume loss
• Non-specific periventricular white matter signal abnormality
SIFD     
HA20 deficiency     
IL10 def     
DADA2     
Aicardi-Goutieres syndrome     
Chest findings
FMF     
TRAPS     
MKD/HIDS     
NOMID     
MWS     
Blau Interstitial lung disease   Interstitial lung disease  
PAPA     
DIRA     
NLRC4-MAS Alveolar pulmonary opacities   Alveolar pulmonary opacities  
SIFD     
HA20 deficiency     
IL10 def     
DADA2     
Aicardi-Goutieres syndrome     
Gastrointestinal findings
FMF Normal or bowel obstruction due to adhesions • Peritonitis and small ascites without underlying cause
• Bowel obstruction due to adhesions
TRAPS     
MKD/HIDS     
NOMID     
MWS     
Blau   • Hepatitis (enlarged hypoechoic/heterogeneous liver)
• Splenomegaly
PAPA   • Splenomegaly
• Intestinal lesions
• IBD similar to Crohn’s disease
DIRA     
NLRC4-MAS Air-fluid levels • Enterocolitis “bowel wall thickening,” small ascites
• Hepatosplenomegaly
• Gallbladder wall thickening
SIFD   Hepatosplenomegaly
HA20 deficiency     
IL10 def   Early onset IBD:
• colitis ± small bowel involvement
• perianal disease
• fistula formation
DADA2   Hepatosplenomegaly
Aicardi-Goutieres syndrome     
Genitourinary findings
FMF     
TRAPS     
MKD/HIDS     
NOMID     
MWS     
Blau   Nephrocalcinosis  
PAPA   Nephrocalcinosis  
DIRA     
NLRC4-MAS     
SIFD   Nephrocalcinosis  
HA20 deficiency     
IL10 def     
DADA2     
Aicardi-Goutieres syndrome     
Lymphadenopathy
FMF     
TRAPS     
MKD/HIDS     
NOMID     
MWS     
Blau   Generalized lymphadenopathy
PAPA     
DIRA     
NLRC4-MAS   Mediastinal and abdominal lymphadenopathy
SIFD     
HA20 deficiency     
IL10 def     
DADA2    Hemorrhagic stroke
Aicardi- Goutieres syndrome    • Brain calcifications
• Leukodystrophy
• Cerebral atrophy
• Periventricular cysts
Vascular findings
FMF     
TRAPS     
MKD/HIDS     
NOMID     
MWS     
Blau    Large vessel vasculitis
PAPA    CNS vasculitis, aneurysm
DIRA    CNS vasculitis
NLRC4-MAS     
SIFD    Multiple enhancing cerebellar lesions (single case)
HA20 deficiency     
IL10 def     
DADA2    Early onset polyarteritis nodosa (PAN)
• Multiple areas of narrowing-beaded appearance of the medium- sized arteries
• Micro-aneurysms
Aicardi-Goutieres syndrome    • Intracranial aneurysm dysplastic vessels
  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; MSK musculoskeletal; CNS central nervous system; IBD inflammatory bowel disease