RSNA 2016Sunday
Image Interpretation Session
Ronald J. Zagoria, MD
• Vice Chair, Clinical Affairs
• Chief, Abdominal Imaging Section
• Professor, University of California, San Francisco
Ronald J. Zagoria, MD
• BA, Johns Hopkins University
• MD, University of Maryland
• Residency & Fellowship, Bowman Gray
• Faculty, Wake Forest University
• Professor & Interim Chair, Wake Forest University
Ronald J. Zagoria, MD
• >130 peer-reviewed publications
• >40 book chapters
• >250 national & international invited lectures
• President, Association of Program Directors in Radiology
• Chair, RSNA Refresher Course Committee
• Chair, Radiology Residency Review Committee
• President, Society of Uroradiology (now SAR)
• Editor-in-Chief, Emergency Radiology
RSNA 2016Sunday Night
Image Interpretation Panel
Moderator: Ron Zagoria
Introducing the Panelists
• Ellen Chung: AFIP/AIRP, USUHS, Pediatric Radiology
• Nancy Fischbein: Stanford University, Neuroradiology
• John Leyendecker: University of Texas, Southwestern, Abdominal Imaging
Introducing the Panelists
• Christian Pfirrmann: University of Zurich, MSK Radiology
• Gautham Reddy: University of Washington, Chest Radiology
RSNA Film Panel 2016
• “Pulling back the curtain”—how it worked behind the scenes
• Selected 5 radiologists who are leaders in their field and famous diagnosticians
• Selected very difficult and interesting cases with the help of UCSF colleagues
RSNA Film Panel 2016
• Sent the cases to panelists 5 months ago
• Panelists contacted last month to make sure they were on track.
• No answers given to the panelists. None needed!
• Confirmed that panelists are “Super Stars” in Radiology!
Many Thanks to UCSF Radiologists
Chris Hess
Thomas Link
John MacKenzie
Brett Elicker
Michael Ohliger
Spencer Behr
Ron Arenson
Ladies and gentlemen, start your motors!
Pediatric Case #1
Ellen Chung
Ellen Chung, MD
• BS, Georgetown University
• MD, Georgetown University
• Radiology: Tripler Army Medical Center
• Pediatric Radiology: Children’s Hospital Boston
Ellen Chung, MD
• Associate Professor and Vice Chair, USUHS
• Chief, Pediatric Radiology, AFIP/AIRP
Pediatric Case #1
1 day old female
*
Findings
• Plain radiograph: Small bell-shaped thorax and bulging flanks; displacement of nondilated bowel centrally
• Contrast enema: normal colon
• UGI: Mass effect on nondilated proximal bowel. Nl DJJ
• CT: Multiple fluid-filled structures between bowel loops with some septations. Some appear tubular.
Differential Diagnosis
• Somewhat tubular cystic structures resemble bowel. If this were bowel then the differential would include distal bowel obstructions:
– Ileal atresia
– Meconium ileus
– Obstructing duplication cyst
– Megacystis-microcolon-intestinal peristalsis syndrome
• But all of these are excluded by lack of microcolon
Differential Diagnosis
• Other considerations for distal obstruction include:
– Colonic atresia
– Functional immaturity of the colon
– Anorectal malformation
• Hirschsprung disease – may have normal enema but why only dilated proximal bowel
• Malrotation with closed loop obstruction due to Ladd band – but DJJ in LUQ
Differential Diagnosis
• So maybe it’s not bowel…
– No dilated proximal bowel on UGI
– No contrast fills these structures after upper and lower GI exams
– Folds/septations are thick
Differential Diagnosis
• What is it then?
• Dilated primordial lymph channels that do not communicate with the central venous system
Dr. Chung’s Diagnosis
• Lymphatic malformation (lymphangioma) of the mesentery
Stop
Correct diagnosis:
Correct diagnosis: Lymphatic Malformation
Older terms
Cystic hygroma
Lymphangioma
Cavernous lymphangioma
Cystic lymphangioma
Lymphangioma circumscriptum
Lymphatic Malformation
• Imaging
– Multicystic
– Fluid levels/hematocrits common
– Flow/enhancement only in walls, septa, microcystic portions
– Mesenteric lesions tend to encase bowel
– May torse – hemorrhage
– Possible associated chylous ascites
Lymphatic Malformation
Three subtypes:
Macrocystic (<2 cm)
Microcystic (>2 cm)
Mixed macro/microcystic
Lymphatic Malformation
Treatment
Sclerotherapy
and/or
Surgical resection
Neuroradiology Case #1
Nancy Fischbein
Nancy Fischbein, MD
• AB, MD: Harvard University
• Diagnostic Radiology: UCSF
• Diagnostic Neuroradiology: UCSF
• To Stanford in 2004
• Professor of Radiology and, by courtesy, of Otolaryngology-H&NS, Neurology, Neurosurgery, and Radiation Oncology
Nancy Fischbein, MD
• Many peer-reviewed papers
• 2 books, multiple chapters
• AJNR Senior Editor, 2011-2015
Neuroradiology Case #1
60-year-old with altered mental status developing over 2 weeks. Urine positive for cocaine, CSF shows lymphocytic pleocytosis
Neuroradiology Case #1
• 60 yr old w AMS developing over 2 weeks
– Broad: neoplastic/paraneoplastic, infectious, inflammatory/demyelinating, vascular (dAVF, vasculitis), traumatic (subacute or chronic SDH), toxic/metabolic
• Urine positive for cocaine
– May be relevant, but not necessarily
• CSF shows lymphocytic pleocytosis
– Ups the ante for infection, inflammation/demyelination
CT scan: normal vs subtle areas of patchy white matter hypodensity
So no subdural hematoma. No cerebral edema or intracranial hemorrhage. We need a better look at the white matter, and for WM,
MR >>>>CT
Multifocal White Matter Lesions
Pre-gad T1
T2
FLAIR
So, what do we think about?
Note: GRE showed no blood products
• Infection
– Cerebritis, brain abscesses, PML
• Neoplasm
– Lymphoma
• Toxic/metabolic
– Usually symmetrical
• Ischemia
– Small-vessel disease
– Multifocal infarcts
– Vasculitis
• Inflammation
– Demyelination
We need more info … we want DWI and Gad
T1 gad
DWI
ADC
Lesions are gad-enhancing, with mixed T2 shine-through and true diffusion restriction (albeit mild) on DWI and ADC
• Best fit diagnostic considerations from our list
– Inflammatory/demyelinating: WM, ovoid, perpendicular, periventricular, perivenular, enhancing
– Vascular: vasculitis or vascular/angiocentriclymphoma
1 week later… the patient has progressed.
Initial imaging
• Our MR thoughts remain reasonable
– Inflammatory/demyelinating
– Vascular: vasculitis or angiocentriclymphoma (though I would like more DWI abnormality)
• Let’s return to hx
– AMS: OK
– CSF: OK
– Cocaine?
Follow-up imaging
Cocaine and the Brain
• 3 major types of cocaine-induced brain injury
– Vascular: ischemic and hemorrhagic stroke
• Vasospasm, increased sympathetic tone, acute HTN, cardioembolism, vasculitis
– Metabolic: cocaine-induced leukoencephalopathy
• Possibly related to mitochondrial dysfunction
• Also post-arrest hypoxic-ischemic encephalopathy
– Immune-mediated multifocal inflammatory leukoencephalopathy 2o to levamisole
Levamisole
• Adulterant commonly found in cocaine
– Antihelminthic or immunomodulatory drug
– Both ANCA+ vasculopathy and demyelination reported
• Also bone marrow suppression
• Associated with acute to subacute brain injury
– Imaging pattern c/w demyelination
– CSF: usually protein and monocytes, can be normal
– May improve w time, steroids, plasmapheresis
• Can recur if challenged w more cocaine
Final Diagnosis for Case #1
Levamisole-induced demyelinating leukoencephalopathy in a patient abusing adulterated cocaine
U.S. DEA in 2011: 82% of seized cocaine contained Levamisole!!
http://www.dailymail.co.uk/health/article-3243134
Stop
Correct Diagnosis: Levamisole-induced leukoencephalopathy
LEVAMISOLE
• Popular cocaine adulterant
• Immune modulator used for colon cancer, RA, and other disorders until 2000
• Multifocal leukoencephalopathy
• Other complications - leukopenia, severe skin disorders, pulmonary hemorrhage, renal failure
• Biopsies show severe demyelination and perivascular lymphocytes
• Testing by urine assay
Abdominal Case #1
John Leyendecker
John Leyendecker
• Professor and Vice Chair, UT Southwestern Medical Center
• MD: University of Pennsylvania
• Residency: Emory University
• Fellowships: Body MRI at Washington University/Mallinckrodt Institute, VIR at Wilford Hall Medical Center
• Before UTSW @ Wake Forest University: Executive Vice Chair and Professor
Abdominal Case #1
49-year-old male with presents to SFGH with altered mental status
• Glioblastoma
• Lymphoma
• Metastasis
• Infection
• Bacterial
• Fungal
• Mycobacterial
• Toxoplasmosis
• Demyelinating disease
?
Ultrasound a few days later
6 months later
Stones/hydro are gone!
49 y.o. man
Ring enhancing brain lesion
• Metastasis
• Lymphoma
• Infection
Kidney stones come and go
Kidney stones are ill-defined and not particularly dense
Stones formed in response to something used to treat the brain lesion
• Stones precipitated rapidly
Treatment induced urolithiasis
Tumor lysis syndrome
Medication induced
• Can occur in context of lymphoma
• Substantial tumor burden
• Acyclovir (Herpes)
• Indinavir (HIV)
• Methotrexate
• Sulf(ph)adiazine(Toxoplasmosis)
Final Diagnosis
Sulfadiazine induced urolithiasis in a patient treated for CNS toxoplasmosis that he got from his pet cat
Sulf(ph)adiazine
• Urolithiasis is a known complication of Sulfonamide therapy.
• Sulfadiazine is first line therapy for HIV-associated CNS toxoplasmosis.
• High dose, urine acidity, and dehydration are contributing factors to agent precipitation, which can occur rapidly in a matter of days to weeks.
• Stopping agent, hydration and alkalynizingurine can result in rapid improvement.
Stop!
Correct Diagnosis:
Correct Diagnosis:Sulfadiazine-Induced Urolithiasis
• SFGH (now ZSFG) did pioneering work in treatment of HIV infection
• Sulfadiazine is a sulfonamide-derived antibiotic
• Therapy for HIV-related CNS toxoplasmosis
• Metabolite:acetylated 2-sulfanilamidopyrimidineis poorly soluble
• Crystalluria or overt stone disease
Sulfadiazine-Induced Urolithiasis
• These stones have attenuation similar to uric acid stones (~120 HU)
• Radiolucent on radiographic studies
• Variable appearance with US
• Treated with drug discontinuation and hydration
• The patient had a cat!
Musculoskeletal Case #1
Christian W. A. Pfirrmann
Christian W. A. Pfirrmann
Christian W. A. Pfirrmann
• Chief of Radiology, Orthopaedic University Hospital Balgrist, University of Zurich
• MD: University of Zurich and Berne
• Radiology: Kantonsspital, Luzern
• MSK Fellowship and Orthopedic Surgery training: Orthopaedic University Hospital Balgrist
• MSK Radiology Research Fellowship: UC San Diego
Musculoskeletal Case #1
57-year-old woman
with short stature
Radiographs of bilateral humerus
Radiograph of the pelvis
CT of the pelvis
MRI of the spine
CT of the chest
Findings
• All bones affected, expanded bones (osteoectasia)
• Pagetoid appearance: Thick cortex & coarse trabeculae
• Loss of definition between cortex and medullary bone
• Diaphysial predominance, but epiphyses also affected
Findings
Spine and thorax:
• Deformation & remodeling
• Pagetoid appearance: Thick cortex & coarse trabeculae
• Osteoblastic/metaplastic/fibrous changes
• Cardiomegaly
Differential Diagnosis
Malfunctioning bone remodeling
Sclerotic bone dysplasia
• Diaphysial dysplasia (Camurati-Englemanndisease type II)
• Hyperostosis corticalis generalisata (Van Buchem’s disease)
• Hyperostosis generalisata with striations
• Hereditary hyperphosphatasia (= Juvenile Paget’s)
• Hyperphosphatasia with osteoectasia
Diagnosis
• Hereditary Hyperphosphatasia
Syn: Juvenile Paget's disease
Stop!
Correct Diagnosis:Hereditary Hyperphosphatasia
Correct Diagnosis:
Synonyms:
• Chronic congenital idiopathic hyperphosphatasemia
• Familial idiopathic hyperphosphatasia
• Familial osteoectasia
• Hyperostosis corticalis deformans juvenilis
• Juvenile Paget's disease
Hereditary Hyperphosphatasia
Genetic disorder (autosomal recessive) or spontaneous mutation with increased bone turnover
Manifests during early childhood with progressive malformations due to abnormally soft bones resulting in short stature
Hereditary Hyperphosphatasia
Imaging findings:
• Increased diameter and density of long
bones, thickened cortices, coarse trabecular pattern
• Enlarged vertebral diameter with decreased
height & increased density
• Bony remodeling and deformity throughout the skeleton
• Cardiomegaly
Chest Case #1
Gautham Reddy
Gautham Reddy
Gautham Reddy
• AB, Harvard
• MD and MPH, George Washington University
• Residency, Thomas Jefferson University
• Fellowship, Cardiac/Thoracic Imaging, UCSF
• Section Chief, Cardiac & Pulmonary Imaging, UCSF
• Residency Program Director, UCSF
• Professor & Vice Chair for Education, Univ. of Washington
Gautham Reddy
• President, North American Soc. for Cardiovascular Imaging
• President, Alliance of Clinician-Educators in Radiology
• Senior Faculty Advisor, A3CR2
• Chair, ABR Cardiac Core Examination Committee
• ACGME Residency Review Committee for Radiology
• Deputy Editor, Journal of Magnetic Resonance Imaging
• Deputy Editor, Journal of Thoracic Imaging (past)
• RSNA: Research Scholar / Honored Educator
Chest Case #1
57-year-old female
3 years
later
5 years
later
3 years
later
5 years
later
CT: 5 years after 1st radiograph
CT: 5 years after 1st radiograph
CT: 5 years after 1st radiograph
CT: 5 years after 1st radiograph
CT: 5 years after 1st radiograph
CT: 5 years after 1st radiograph
CT: 5 years after 1st radiograph
Coronal
Findings: Radiographs
• Reticulation: peripheral / upper lung predominance
• Hilar retraction
• Outward to inward progression over 5 years
Findings: CT
• Fibrosis: peripheral / upper lung predominance
• Honeycombing
• No cysts or nodules
Differential Diagnosis:Peripheral Fibrosis
• Usual interstitial pneumonia
– Idiopathic pulmonary fibrosis
– Asbestosis
– Drug-related fibrosis
• Nonspecific interstitial pneumonia
• Pleuroparenchymal fibroelastosis
Differential Diagnosis:Peripheral Fibrosis
• Usual interstitial pneumonia
– Idiopathic pulmonary fibrosis
– Asbestosis
– Drug-related fibrosis
Progressive
Honeycombing
X Lower lung predominant
(mid-upper uncommon)
Differential Diagnosis:Peripheral Fibrosis
• Nonspecific interstitial pneumonia
– Collagen vascular disease
X Stable or slowly progressive
X No honeycombing
X Lower lung predominant
X Subpleural sparing
Differential Diagnosis:Peripheral Fibrosis
• Pleuroparenchymal Fibroelastosis
Progressive
Honeycombing
Upper lung predominant
Inward progression
Differential Diagnosis:Upper Lung Fibrosis
• Sarcoidosis
• *Drug-related fibrosis*
• Chronic hypersensitivity pneumonitis
• Pleuroparenchymal fibroelastosis / RAS
Differential Diagnosis:Upper Lung Fibrosis
• Sarcoidosis
Can be progressive
Honeycombing
X Central distribution
X Nodules
X Conglomerate masses
Differential Diagnosis:Upper Lung Fibrosis
• Chronic hypersensitivity pneumonitis
Mid lung distribution
Costophrenic sulcus sparing
X Ground glass opacity
X Mosaic perfusion/air trapping
X “Head cheese” sign
Differential Diagnosis:Upper Lung Fibrosis
• *Drug-related fibrosis*
Variable distribution
Honeycombing
X Progression less likely after
initial exposure
X Progression not inward
Differential Diagnosis:Upper Lung Fibrosis
• Pleuroparenchymal Fibroelastosis
Progressive
Honeycombing
Peripheral predominant
Inward progression
Dr. Reddy’s Diagnosis
Pleuroparenchymalfibroelastosis
Stop
Correct Diagnosis:
• Histopathologic pattern of injury
• Upper lobe predominant fibrosis and deposition of elastic fibers
• Fibrosis of visceral pleura
• Nearly identical to apical fibrous cap but more severe
• ? ischemic etiology
Pleuroparenchymal Fibroelastosis (demographics)
• Fibrosis (reticulation, traction bronchiectasis and honeycombing)
• Apical and subpleural distribution
• Progressive nature
• Pleural thickening
Pleuroparenchymal Fibroelastosis (demographics)
• Etiology: idiopathic, familial, stem-cell transplant, lung transplant rejection, drugs, recurrent infection
• Accounts for up to 6% of interstitial lung disease patients
• Mean age: 50s
• Mortality 50% in f/u period (range: 4 mos–2 yrs)
ROUND 2
Pediatric Case #2
Ellen Chung
Ellen Chung
With fellow fellows in Courchevel, France 2004
Ellen Chung
Better at dancing than skiing
Pediatric Case #2
7-year-old male with arm pain
Findings
• Plain radiographs: expansile lytic lesion in the proximal humeral metaphysis with internal septations, pathologic fracture, and possible fallen fragment
Differential DiagnosisMetadiaphyseal lesion w/o soft tissue mass
• Solitary bone cyst
• Fibrous dysplasia
• Nonossifying fibroma – but not eccentric
• Langerhans cell histiocytosis
• Aneurysmal bone cyst - but not eccentric and cortex is not thinned
• Telangiectatic osteosarcoma
Differential DiagnosisMetadiaphyseal lesion w/o soft tissue mass
• Solitary bone cyst
• Fibrous dysplasia
• Langerhans cell histiocytosis
• Telangiectatic osteosarcoma
Findings
• MR: Proximal component is fluid-signal on all sequences with rim enhancement. Distal lateral component is hypointense on T2-WI and enhances
Differential DiagnosisMetadiaphyseal lesion w/o soft tissue mass
• Solitary bone cyst
• Fibrous dysplasia – but there is a cystic component
• Langerhans cell histiocytosis – but there is a cyst
• Telangiectatic osteosarcoma
Differential DiagnosisMetadiaphyseal lesion w/o soft tissue mass
• Solitary bone cyst with hemorrhage and reactive change due to pathologic fracture
• Telangiectatic osteosarcoma
Dr. Chung’s Diagnosis
• Solitary bone cyst with hemorrhage and reactive change due to pathologic fracture
Stop!
Correct Diagnosis:
Correct Diagnosis: Bone cyst with healing fracture
• Solitary bone cyst with healing fracture
• Enhancing tissue due to remodeling and fibrosis
• Key is not to mistake this for osteosarcoma!
Neuroradiology Case #2
Nancy Fischbein
Nancy and Mike with Jenna and Eliana
Nancy and Mike with Emily, Jenna, Eliana and Adam
Nancy and Mike
Neuroradiology Case #2
46-year-old woman with refractory seizures and right hemiparesis since early childhood. Recent declining vision, mild hematuria on screening urinalysis. Family history of early strokes
Neuroradiology Case #2
• 46 yr old F w refractory seizures, R hemiparesis since early childhood
– Which came first? Stroke w 2o seizure vs seizure-induced injury
• Are we going to see brain injury or brain malformation?
• Recent declining vision, mild hematuria on screening urinalysis
– Small vessel pathology w retinal, glomerular injury
– Progressive, not static
• Family history of early strokes
• Genetic/metabolic disorder
Findings
• Diffuse but asymmetrical WM FLAIR/T2 hyperintensity
• “Holes” in WM on the R side
• Ex vacuo enlargement of L lateral ventricle, severe WM volume loss
• Innumerable foci of GRE susceptibility, R>L
– Likely hemosiderin not Ca2+ but hard to be absolutely sure
OMG …PANIC!
TOF MRA
• No diffusion restriction
• No post-gadolinium enhancement
• Occlusion of an MCA
• So large-vessel pathology is potentially at work
• And it looks like one or more aneurysms
Ddx: Thought Process
• No brain malformation
• No evidence for tumor or inflammation
• Vascular etiology reasonable by history, imaging
– Small vessel dz of WM
– Microhemorrhages
– Aneurysm formation
Stroke In the Young w +Family History
• Consider single-gene disorders such as
– CADASIL* and its relatives
– Ehlers-Danlos
– Fabry Disease
– Homocystinuria
– Marfan syndrome
– Sickle Cell Disease
• Small vessels affected more than large
*CADASIL: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebral Autosomal Dominant Arteriopathyw Subcortical Infarcts and Leukoencephalopathy
• Nonatherosclerotic nonamyloid microangiopathy
– Progression: leukoaraiosis/microhemorrhages to recurrent strokes
– Autosomal dominant: mutation in NOTCH3 gene (chr 19)
• Clinical: cognitive dysfunction, migraine, psychiatric symptoms, recurrent stroke/TIA
– Eyes, kidneys may be affected; Aneurysms: rare
– Onset typically in mid-30’s
• Pathology: accumulation of granular osmiophilicmaterial
– Degeneration of vascular smooth muscle cells
Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke (HERNS)
• A.k.a. RVCL, retinal vasculopathy w cerebral leukodystrophy
• Rare genetic condition affecting endothelium
– Clinical: progressive adult onset vision loss, psychiatric disturbance, stroke-like episodes, neurologic decline, kidney disease/hematuria
– Mutations in TREX1 gene (DNA exonuclease, located on chromosome 3)
COL4A1-Related Disorder
• COL4A1 gene (chromosome 13) directs synthesis of one component of type IV collagen
– Important in basement membrane networks
• Phenotypes of COL4A1-related disorders
– Often have overlapping features (and with COL4A2 too)
• AD familial porencephaly
• AD brain small vessel disease w hemorrhage (may see infantile hemiparesis with seizure, WM disease, microbleeds)
• Hereditary angiopathy w nephropathy, aneurysms, and muscle cramps (HANAC syndrome)
– Multisystem: affect brain, eye, kidney, muscle
Differential Diagnosis
• CADASIL, vs
• COL4A1-related disorder (Autosomal dominant brain small-vessel disease with hemorrhage) or COL4A2-related disorder, vs
• HERNS, vs
• Other genetic defect leading to early-onset arteriopathy w cavitatingleukoencephalopathy
My “Best-Fit” Diagnosis
• COL4A1-related disorder (specifically, autosomal dominant brain small-vessel disease with hemorrhage)(OMIM#607595)
• New genetic disorders that affect small vessels are being described all the time!
Chromosome 13: 13q34
OMIM: online Mendelian inheritance in man, www.omim.org
Stop!
Correct Diagnosis: COL4A1 MUTATION
Correct Diagnosis:
• Gene encoding type IV collagen, major component of the vascular basement membrane
• Autosomal dominant (~25% have sporadic mutation)
• Multi-system disease: kidney disease, retinal arteries, muscles, etc
• Brain - leukoencephalopathy, deep hemorrhage, calcification, lacunar infarcts, porencephaly
• Diagnosis by genetic testing
Abdominal Case #2
John Leyendecker
John Leyendecker
John Leyendecker
John Leyendecker
Abdominal Case #2
50-year-old female with abnormal liver function tests
pancreas
liver
spleen
5 minute delay
SMV?
SMA
Aorta
IVC
Aorta
Where’s the portal vein?
Portal circulation drains directly to the IVC
• The vascular anatomy is congenital
• The vascular anatomy is acquired
50 y.o. woman
Portosystemic communication
• There is no evidence of prior surgery
• No other stigmata of portal hypertension
• There is no evidence of a normal portal vein
Avidly enhancing liver lesion
Additional liver lesions
Portosystemic shunt associated with congenital absence of the portal vein and subsequent development of liver tumors
Abernethy Malformation
• Rare congenital anomaly with portosystemic shunting.
– Type 1- No intrahepatic portal vein.
• 1a- separate drainage of SMV and splenic v
• 1b- common trunk
– Type 2- hypoplastic portal vein
Abernethy Malformation
FNH
• Nodular regenerative hyperplasia
• Focal nodular hyperplasia
• Hepatic adenoma
• Hepatoblastoma
• Hepatocellular carcinoma
Adenoma
Final Diagnosis
Type Ib Abernethy malformation with hepatocellular carcinoma
(and a bunch of other liver things)
Stop
Correct Diagnosis:Congenital Portosystemic Shunt with HCC
Correct Diagnosis:
• AKA Abernethy Malformation
• HCC and multiple benign regenerative nodules
• Described in 1793 by John Abernethy
• Shunt causes ischemia, abnormal hepatic growth factors and hormones
• Often associated congenital abnormalities
Congenital Portosystemic Shunt with HCC
• ~50% develop liver masses
• Most benign
• HCC and Hepatoblastoma can develop
• Proven HCC in this patient
Musculoskeletal Case #2
Christian Pfirrmann
Christian Pfirrmann
Musculoskeletal Case #2
18-year-old man with stiffness
Radiographs of bilateral feet
Radiographs
of bilateral hands
MRI of the spine (axial images, T1+/- Gd, T2)
c
Patient had a biopsy of the right kidney when he was a young child
a.p. scoliosis film of the spine
MRI of the pelvis
Findings
• Symmetric malformed great toes - hypoplasticproximal phalanx with hallux valgus
• Symmetric short first metacarpal bone
• Soft tissue ossification
• Fusion of SI joints
Differential Diagnosis
Malformed great toes:
• Fibrodysplasia ossificans progressiva
• Isolated congenital malformation
• Brachydactyly/Morton's toe
Diagnosis
• Fibrodysplasia ossificansprogressiva (FOP)
Stop!
Correct Diagnosis:
Correct Diagnosis:Fibrodysplasia Ossificans Progressiva (FOP)
Stone Man Syndrome:
Discussion
• Prevalence: 1/2,000,000
• Malformations of the great toe
• Progressive heterotopic ossifications
• Flare-ups occur spontaneously – misdiagnosed as tumors
• Avoid soft-tissue trauma (biopsies, injections, surgery)
Fibrodysplasia Ossificans Progressiva
• Autosomal dominant disorder of bone formation
• Heterozygous mutation of a bone morphogenetic protein (BMP) type I receptor
• Developmental skeletal defects and extensive heterotopic ossification within soft tissues during childhood
Chest Case #2
Gautham Reddy
Gautham Reddy
Chest Case #2
21-year-old female
RUL
LLL
RUL
RML
LUL
LLL
RUL
RUL
LUL
LLL
RUL
RML/
RLL
Findings: Radiographs
• Lucency, right hemithorax, upper left hemithorax: emphysema or cysts
• Opacity at bases, especially medial right base
Findings: CT
• Marked lucency, right upper lobe: emphysema more likely than cysts
• Herniation of right lung across the midline, occupying upper left hemithorax
• Collapse of RLL, RML, and LUL
• Normal airways
Differential Diagnosis #1
• Congenital lobar overinflation
• Panlobular emphysema
• Swyer-James syndrome
• Vanishing lung syndrome
Differential Diagnosis
• Congenital lobar overinflation
X LUL most common (40)%
Right upper lobe (20)%
X Overinflation, not emphysema
X Usually presents in childhood
X Thorax may be asymmetric
in adults
Differential Diagnosis
• Panlobular emphysema
– Alpha-1-antitrypsin deficiency
– Methylphenidate (Ritalin) lung
Severe emphysema
X Lower lobe predominance
X Bilateral
Differential Diagnosis
• Swyer-James syndrome
post-infectious obliterative bronchiolitis
Unilateral
X Hyperlucency (and air trapping)
X Lucent lung is small
Differential Diagnosis
N Engl J Med 2014; 370:e14, 2014
• Vanishing lung syndrome
(Idiopathic giant bullous emphysema)
Unilateral or bilateral
Upper lobes
Occupies > 1/3 of hemithorax
X “Trampoline” sign (peripheral)
Differential Diagnosis #2
• Congenital lobar overinflation
• Panlobular emphysema
• Swyer-James syndrome
• Vanishing lung syndrome
• Neurofibromatosis, type 1
• Proteus syndrome
Differential Diagnosis
• Neurofibromatosis, type 1
Emphysema or cysts
Soft tissue abnormalities
X Neurofibromas
X Ribbon deformities of ribs
X Vertebral abnormalities
X Hemihypertropy / dysplasias
Differential Diagnosis
• Proteus syndrome
? “Elephant man”
Emphysema or cysts
Unilateral or asymmetric
Soft tissue overgrowth
X Osseous overgrowth
(Pulmonary embolism)
Dr. Reddy’s Diagnosis
Proteus syndrome
Stop!
Correct Diagnosis:
Correct Diagnosis: Proteus syndrome
• Congenital disorder
• Overgrowth of tissues
• Normal appearance at birth but progressive afterwards
• Heterogeneous (mosaic) distribution within body
• Most common organs affected:
– Skin
– Musculoskeletal (limbs, vertebra, skull)
– Vascular malformations
Pulmonary findings of Proteus syndrome
• Emphysema and bulla
• Often unilateral or strikingly asymmetric, although may also be bilateral
• Hyperinflation with compression of mediastinal structures
• Pulmonary vascular anomalies
• Thromboembolism
RSNA 2016 Unknown Case Panel
CONGRATULATIONS TO ALL OF THE PANELISTS AND THANKS TO THE AUDIENCE FOR YOUR ATTENTIONRON ZAGORIA