Skip to main content

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