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Table 1 Congenital and hereditary cystic diseases of the abdomen. Associated radiological findings.

From: Congenital and hereditary cystic diseases of the abdomen

Organ Disease Typical imaging findings
Liver and biliary tract
Polycystic liver disease - Cysts located within the peripheral parenchyma
- Peribiliary cysts
- Fluid level, cyst wall thickening, calcification and endocavitary air bubbles, if infection is present
- Hyperdensity on CT and hyperintensity on T1W MR images could be seen due to the hemorrhage or infection
Caroli disease - Cystic appearing enlarged intrahepatic bile ducts
- Central dot sign (portal radicle within the dilated bile duct)
- Endoluminal stones or sludge may be observed
Choledochal cysts Type-I - Type IA: Diffuse cystic dilation of the extrahepatic bile duct
- Type IB: Focal cystic dilation of the extrahepatic bile duct
- Type IC: Diffuse fusiform dilation of the entire extrahepatic bile duct
Type-II - Focal diverticular outpouching of the common bile duct
Type-III - Intramural dilation of the most distal portion of the common bile duct (choledochocele)
Type-IV - Type IVA: Combined saccular shaped dilations in the intrahepatic and extrahepatic bile ducts
- Type IVB: Saccular dilations restricted to extrahepatic bile ducts
Type-V - Caroli disease
Biliary hamartomas(von Meyenburg complex) - Innumerable subcentimeter cysts spread throughout the liver parenchyma
Ciliated hepatic foregut cyst - Unilocular cystic lesion located in the subcapsular area along the anterior surface of the liver with segment 4 being the most common location
Autosomal dominant polycystic kidney disease - Early stage: Single or multiple cysts in one or both kidneys
- Final stage: Multiple cysts completely replacing the entire renal parenchyma
- Hyperdensity on CT (a) and hyperintensity on T1W(b) MR(c) images in case of hemorrhage
Autosomal recessive polycystic kidney disease - Enlarged kidneys with thickened hyperechoic parenchyma caused by microcysts
- Larger cysts (>1 cm) may accompany in some cases
- Suggestive findings of hepatic abnormalities including congenital hepatic fibrosis, Caroli disease, and bile duct ectasia
Multicystic dysplastic kidney disease - Unilateral cysts in disorganized pattern completely replacing the renal parenchyma, which may be observed on antenatal US(d)
Nephronophthisis and medullary cystic kidney disease - Early stage: Hyperechoic renal parenchyma with the loss of corticomedullary differentiation
- Advanced stage: Cysts, of varying size, in medullary and corticomedullary locations. The kidneys appear small due to parenchymal fibrosis
Von Hippel-Lindau disease - Bilateral renal cysts of varying histopathologic features, ranging from simple and hyperplastic cysts to cystic clear cell carcinomas
Tuberous sclerosis complex - Bilateral simple renal cysts with accompanying angiomyolipomas
Von Hippel-Lindau disease - Simple cysts
- Serous cystadenomas
- Cystic or solid neuroendocrine tumors
Multiple endocrine neoplasia type I - Cystic or solid neuroendocrine tumors
Cystic fibrosis - Complete or partial fatty replacement of the pancreas
- Atrophy of the pancreas
- Simple cysts completely replacing the parenchyma (pancreatic cystosis)
Gastrointestinal tract
Duplication cysts - Cyst within the close proximity of the bowel segment
- The double wall sign (inner hyperechoic mucosa and outer hypoechoic muscularis propria)
- “Y configuration” that is indicative of a shared wall with the cyst and the neighboring bowel wall
- Internal septation or luminal debris may be observed due to the infection
Lymphatic system
*[27, 28]
Lymphatic malformations - Well-circumscribed cystic lesion with internal septations
- The fluid content of the lesion may contain fat
- Small lesions may change location on follow-up imaging
Mesothelial cyst - Homogeneous bilobulated cystic lesion located between posterolateral aspect of the right liver lobe and the adjacent diaphragm
*[30, 31]
Prostatic utricle cyst - Midline cyst communicating with the prostatic urethra and not extending above the base of the prostate
Mullerian duct cyst - Teardrop-shaped midline cyst extending above the superior margin of the prostate and not communicating with the prostatic urethra
Urachal cyst - Homogeneous midline cyst along the trajectory of the urachus (between the bladder dome and umbilicus)
- Inhomogeneous cyst content, cyst wall thickening, and inflammatory stranding adjacent to the cyst indicate infection
Zinner’s syndrome
Seminal vesicle cysts - Ipsilateral renal agenesis, seminal vesicle cysts, and ejaculatory duct obstruction
- In case of hemorrhage or infection the cyst content may appear as bright on T1W MR images
  1. *: References , (a) CT: Computed tomography, (b) T1W: T1-weighted, (c) MR: Magnetic resonance, (d) US: Ultrasonography