AndreaLaghi,MD

ProfessorofRadiologyandNuclearMedicine,Sapienza–UniversityofRome

Chairman,DiagnosticandInterventionalRadiologyUnit,Sant’AndreaUniversityHospital,Rome

?MD:MedicineandSurgery,Sapienza

?ResidencyinDR:Sapienza

?ResidencyinNuclearMedicine,Sapienza-UniversityofRome

Expertise/researchcontributions:CT(liver,CTcolonographyandCTA),MRI(liverandbiliaryducts,smallbowelandcontrastmedia)

History

?66year-oldmalewithchronicabdominalpain

?Acuteexacerbation

?Chronicmedicalhistory,includes

–Gout

–Hypertension

–“Congenitalemphysema”:Rxinhalersandprnsteroids

?Recurrentpneumothoraces

?Recurrentinfections

?Chronicallyshortofbreath

History

?RelevantSurgicalhistory

–Bilateralcarpaltunnelreleases;rightside’s

–Bilateralfingeramputations:etiology?

–Hxofintussusception:smallbowelresection

?RelevantSurgicalhistory

?Bilateralcarpaltunnelreleases;rightside’s

?Bilateralfingeramputations:etiology?

Findings:X-ray

?Thirdfingeramputation

?Macrodactyly(disproportionateovergrowth)

?Coursetrabeculationofenlargedphalanxes

?Softtissuehypertrophy(metacarpusandaroundseconddigit)

?Abnormallycalcifiedconnectivetissue

Findings:MR

?Soft-tissuefibroticlesion(lowsignalonT1/T2),i.e.fibroushamartoma

?Bonecysticlesions

Findings

?Overgrowthofconnectivetissues(bone,fat)

?Progressivedisease

?Onsetatyoungage

Findings

?“Congenitalemphysema”:Rxinhalersandprnsteroids

?Recurrentpneumothoraces

?Recurrentinfections

?Chronicallyshortofbreath

Findings

?ChestX-ray

?Asymmetrichemithoraces;hyperinflationofleft

lung

?Redistributionofbloodflowtotheupperlung

zoneswithabnormalenlargementoftheupper

lobevessels

?Prominenthilawithreticularandstreaky

densitiesinbothperihilarareas

Findings

?LungCT

?Hyperinflationoftheleftlung

?Emphysematouschanges

?Areasofscarringandcysticchangesintheleftlowerlobe

History

?Hxofintussusception:smallbowelresection

Findings

?Multipleencapsulatedlipomasinthestomach,duodenumandjejunum

?Fattyovergrowthintheomentum

?Lipohypoplasiaofsubcutaneousfat

?Dysregulatedadiposetissue

?Splenomegaly

??Thickwalloftherightventricle

DIFFERENTIALDIAGNOSIS

?Macrodystrophialipomatosa

–Proliferationofallmesenchymalelements,disproportionateincreaseinfattissue;mostlyunilateral;lowerlimbupperlimb;second/thirddigits;noextra-skeletal/visceralinvolvement

?Multiplesymmetriclipomatosis(Madelungdisease)

–Noboneinvolvement

?CLOVE(CongenitalLipomatousOvergrowth,Vascularmalformations,andEpidermalnevi,Skeletal)syndrome

–Nolunginvolvement

?Proteussyndrome

–Cerebriformconnectivetissuenevi;asymmetricovergrowthofbodyparts,particularlybones;cysticlungdisease/emphysema;aggressiveabdominallipomas

FinalDiagnosis

ProteusSyndrome

ProteusSyndrome

?Rarecongenitalhamartomatoussyndrome

?Prevalence1per1,,livebirths

?Overgrowthofmultipletissues,especiallybone,fat,andotherconnectivetissuesinapatchyormosaicpattern

–disproportionate,asymmetricovergrowthofbodyparts

–characteristiccerebriformconnectivetissuenevi

–epidermalneviinearlylife(by18months)

–soleoffootinvolvementrareinotherdifferentialconsiderations

–vascularmalformations(capillary,venous,orlymphatictypes)

–dysregulatedadiposetissue(lipomas,lipohypoplasia,fattyovergrowth,localizedfatdeposits)

–unusualfeatures:bullouslungalterations;specificneoplasms;facialphenotypeassociatedwithintellectualdisabilityand/orseizures,and/orbrainmalformations;deepveinthrombosis

ClinGenet:85:–

DiagnosisLiveTM

WhichismostcorrectregardingProteusSyndrome?

A.NamedafteraGreekseagod

B.NamedforJoseph(“John”)Merrick’shometown

C.AfflictedAbrahamLincoln

D.ThemodelfortheMichelinman

相关链接

RSNA读片会病例挑战（4）：Erdheim-Chester（非朗格汉斯细胞组织细胞增多症）

RSNA读片会病例挑战（3）：肺结节病样肉芽肿病

RSNA读片会病例挑战（2）：乳腺假血管瘤样间质增生

RSNA读片会病例挑战（1）：自身免疫胶质纤维酸性蛋白（GFAP)星形细胞病

RSNA读片会、每日病例挑战答案公布

RSNA读片会病例挑战（1）：男，10岁，发热、疲乏5天，意识障碍

AutoimmuneGlialFibrillaryAcidicProtein(GFAP)Astrocytopathy

RSNA读片会病例挑战（2）：女，37岁，左乳进行性无痛性增大1年

GiantPseudoangiomatousStromalHyperplasia(PASH)

RSNA读片会病例挑战（3）：中年男性，咳血

Sarcoid-likegranulomatosisofthelung

RSNA读片会病例挑战（4）：57岁女性，劳累后气短三月，伴疲劳及游走性背痛

Erdheim-Chester(non-Langerhans-cellhistiocytosis)

RSNA读片会病例挑战（5）：66岁，慢性腹痛急性加重，既往有痛风、高血压及“先天性肺气肿”病史

ProteusSyndrome

RSNA读片会病例挑战（6）：63岁女性，右腹痛，体重下降5kg，既往有长期癫痫史

Perivascularepithelioidcelltumor(PEComa)

RSNA病例（7）：男，60余岁，全身疼痛、疲乏、肌力弱及步态异常数年，有多发骨折、前列腺癌史，右大腿疼痛不适2-3年

PhosphaturicMesenchymalTumor

RSNA读片会病例挑战（8）：女，2岁，腹胀、肾脏异常，活检病理报“Wilms瘤”

PIK3CA-RelatedOvergrowthSpectrum(PROS):CLOVESSyndrome

RSNA：SundayCaseoftheDay（UnknownCases）

1、Galactoceleinabreast-feedingwoman；

2、AORPA(Anomalousoriginoftherightpulmonaryarteryfromtheascendingaorta)；

3、Epipericardialfatnecrosis；

4、Bouveret’ssyndrome；

5、Hepatospleniccandidiasiswithmycotichepaticarterypseudoaneurysm；6、Tensionhematocelecausingtesticularischemia；

7、GiantCellArteritis

8、RecurrentprostatecarcinomawithrightpelviclymphnodemetastasisandcoexistingPaget’sdisease；

9、RetainedRAY-TECSponge(Gossypiboma/Textiloma)

10、InvasiveAspergillosis；

11、ComplexRegionalPainSyndrome(ReflexSympatheticDystrophy)；

12、Tuberoussclerosis；

13、Alobarholoprosencephaly

14、C.Externalsourceofradiationbeingpartiallyblockedbytheedgeofthecameracrystal；

15、Hepaticadenoma,likelyinflammatorysubtypegivendemographicsandpresenceofmetabolicsyndromeandhepaticsteatosis

RSNA：MondayCaseoftheDay（UnknownCases）

1、Extremeweightloss(cachexia)；

2、Carney