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Insights into Imaging

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
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