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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