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 | ||
Kidney | 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 | ||
Pancreas | 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 | 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 | |
Diaphragm *[29] | Mesothelial cyst | - Homogeneous bilobulated cystic lesion located between posterolateral aspect of the right liver lobe and the adjacent diaphragm | |
Prostate | 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 | ||
Urachus *[32] | 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 *[33] | 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 | |