Table 2.

Anatomical and functional imaging characteristics of patients

Patient	Age	CT	MRI	[18F]-FDG	[18F]-FDOPA	[18F]-FDA	[68Ga]-DOTATATE*	[123I]-MIBG**
1	18	R adrenal, one abdominal lesion, bilateral renal cysts		+	+ + +	+ + +	ND	# #
	22–24	ND	pericaval focus, breast cysts	+	+ +	+ +	+ + (+)	ND
2	44 – 46	multiple retroperitoneal lesions and jugular foramen lesion		+	+ + +	+ + +	+ +	ND
		lung cysts	cysts in cervix
3	29	multiple abdominal lesions, asc. aortic aneurysm		+ +	+ + +	+ + +	ND	# # #
	29–31	multiple abdominal lesions, R>L adrenal lesion pericardial cyst, physiologic R pelvic cyst on MRI		+ +	+ + +	ND	ND	# #
	33	L adrenal, 6 abdominal lesions		+ + +	+ +	+ +	+ +	ND
4	25	2 abdominal lesions	ND	+	+ + +	+ +	ND	ND
		hemangioma of the liver since age 20
5	9	mesentericadenopathy of uncertain significance		-	ND	ND	ND	ND
	11	ND	5 abdominal lesions	+ +	+ + +	ND	ND	ND
6	39	abdominal lesions, pancreatic cyst, liver lesion on MRI		+ +	+ + (+)	+ + (+)	ND	ND
	39–40	ND	abdominal lesions	+ (+)	+ +	+ +	+ +	ND
7	17	ND	R adrenal	ND	+ + +	ND	-	ND

^*Not initially performed in previous studies, [⁶⁸Ga]-DOTATATE, a new functional imaging modality, was included as further means of disease localization in five out of 7 patients; [⁶⁸Ga]-DOTATATE PET/CT was not performed in the teenage girl and complete series is also lacking for patient No. 4;

^**[¹²³I]-MIBG scintigraphy was less accurate compared to PET/CT imaging, and was used for eligibility to MIBG treatment after approval of [⁶⁸Ga]-DOTATATE for our protocol only.

Abbreviations: asc.=ascending; CT=computed tomography; L=left; MRI=magnetic resonance imaging; ND=Not Done; R=right; positron emission tomography (PET)/CT using: [¹⁸F]-FDG=[¹⁸F]-fluorodeoxyglucose, [¹⁸F]-FDOPA=[¹⁸F]-fluorodihydroxyphenylalanine, [¹⁸F]-FDA=[¹⁸F]-fluorodopamine, and [⁶⁸Ga]-DOTATATE=[⁶⁸Ga]-(DOTA)-[Tyr3]-octreotate as radiopharmaceuticals, with “-“, “+”, “+ +”, and “+ + +” signifying “no”, “weak”, “moderate”, and “good” uptake; [¹²³I]-MIBG=[¹²³I]-metaiodobenzylguanidinescintigraphy, with “# #” and “# # #” signifying “moderate” and “strong” uptake;

Because the pancreatic cyst of patient No. 6 developed in the interval between two surgeries and was fading to disappearance on imaging over the course of several months, there is the possibility that this cyst was iatrogenically induced by the first surgery. Patients also presented with adnexal cysts but, because of time dependent changes, these were regarded as physiological or not part of the cystic lesions related to the syndrome. For instance, patient No. 3 had been diagnosed with polycystic ovary syndrome (PCOS) in the past and we could identify a persisting pelvic cyst on MRI, patient No. 4 had an enlarged ovarian cyst (30×28 mm) at the age of 11, and patient No. 6 had been operated on for polycystic ovaries at the age of 31.