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Table 4 Imaging findings in the gastrointestinal system, genitourinary system, lymphadenopathy, and vascular system

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

Disease

Imaging findings

GI

GU

Lymphadenopathy

vascular

FMF

Peritonitis without a primary cause (echogenic fat on ultrasound and fat stranding on CT with small ascites)

None

None

None

TRAPS

Splenomegaly, then resolved

None

None

None

MKD/HIDS

Splenomegaly

None

Bilateral cervical

None

NOMID

None

None

None

None

MWS

None

None

None

None

PAPA

US abdomen: wall thickening of the right colon, splenomegaly

None

None

None

Blau

None

None

None

None

DIRA

None

Renal US: enlarged echogenic kidneys.

None

None

DADA2

None

None

None

Angiogram of the abdominal aorta: suggestive of small vessel arteritis such as PAN

IL10 deficiency

US abdomen:

• Marked gallbladder wall thickening

• Moderate ascites

• Small and large bowel wall thickening with hyperemia and lack of peristalsis, no pneumatosis

• Large echogenic liver,

• Splenomegaly

Lower GI: colitis, terminal ileitis.

X-ray: markedly distended bowel loops

Renal ultrasound:

• Echogenic kidneys

• Abnormal cortical foci, crystal deposition vs. TORCH

None

None

NLRC4-MAS

US abdomen:

• Increased periportal echos in the liver

• Splenomegaly

None

Mediastinal and intra-abdominal

None

HA20 deficiency

None

None

Axillary and inguinal

None

SIFD

None

None

Submental

None

Aicardi-Goutieres syndrome

None

None

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