2. ASPNR
Moderators
Susan Palasis, MD
Children’s Healthcare
of Atlanta
Emory University
V. Michelle Silvera, MD
Boston Children’s Hospital
Harvard University
Ashley Robinson, MD
Sidra Medicine
Timothy Booth, MD
Dallas Children’s Hospital
UT Southwestern
Caroline Robson, MBChB
Boston Children’s Hospital
Harvard University
Presenters
Aylin Tekes, MD
Johns Hopkins
3. Trivia Question
A. Eight pairs of grey squirrels
B. The Gastown Vancouver Steam Clock
C. Stanley Park
D. The Vancouver Canucks (previously
known as New Jersey Devils)
What gift did NYC give to Vancouver in 1909?
4. Trivia Question
A. Eight pairs of grey squirrels
B. The Gastown Vancouver Steam Clock
C. Stanley Park
D. The Vancouver Canucks (previously
known as New Jersey Devils)
What gift did NYC give to Vancouver in 1909?
5. Trivia Question
A. Eight pairs of grey squirrels
B. The Gastown Vancouver Steam Clock
C. Stanley Park
D. The Vancouver Canucks (previously
known as New Jersey Devils)
What gift did NYC give to Vancouver in 1909?
6. Trivia Question
A. Eight pairs of grey squirrels
B. The Gastown Vancouver Steam Clock
C. Stanley Park
D. The Vancouver Canucks (previously
known as the New Jersey Devils)
What gift did NYC give to Vancouver in 1909?
7. Trivia Question
A. Eight pairs of grey squirrels
B. The Gastown Vancouver Steam Clock
C. Stanley Park
D. The Vancouver Canucks (previously
known as New Jersey Devils)
What gift did NYC give to Vancouver in 1909?
8. Trivia Answer
A. Eight pairs of grey squirrels
B. The Gastown Vancouver Steam Clock
C. Stanley Park
D. The Vancouver Canucks (previously
known as New Jersey Devils)
What gift did NYC give to Vancouver in 1909?
9. Fetal ENT & orbit
Ashley J Robinson MBChB
Department of Radiology
Sidra Medicine, Doha, Qatar
Associate Professor
Weill Cornell Medical College
Pediatric Interesting
Case Session
lisanilssonart.com
14. Micrognathia
• Small mandible
• Frequent in:
• Syndromes:
• Pierre Robin
• Goldenhar / Hemifacial microsomia
• Treacher Collins
• Chromosomal anomalies
• Tri 18/13
• Triploidy
cf. normal >65°
Inferior facial angle
15. Cleft palate
• Failure of secondary
palate formation
• Without cleft lip
• Less common
• Difficult to diagnose
• Look for uvula
• Strong association with
Pierre-Robin
uvula 1° palate
21. A. Cleft palate
B. Choanal atresia
C. CHARGE syndrome
D. Syndromic/genetic/chromosomal
What is the diagnosis?
22. A. Cleft palate
B. Choanal atresia
C. CHARGE syndrome
D. Syndromic/genetic/chromosomal
What is the diagnosis?
23. Cleft palate
• Failure of secondary
palate formation
• Without cleft lip
• Less common
• Difficult to diagnose
• Look for uvula
• Strong association with
Pierre-Robin
uvula
35. Tubulinopathy
• Most frequently:
• Lissencephaly (neuronal
migration defect)
• ACC (defective axonal
guidance)
• Z-shaped brainstem
• Abnormal cerebellum but braintem
can be normal
Prominent
ganglionic
eminences
Callosal
agenesis
36. X-linked hydrocephalus
• Callosal dysgenesis
• Ventriculomegaly
• Adducted thumbs
• =L1CAM
Timor-Tritsch. Transvaginal sonographic detection of adducted thumbs, hydrocephalus, and agenesis of the corpus callosum at
22 postmenstrual weeks: the masa spectrum or L1 spectrum. Prenatal diagnosis. Prenat Diagn. 1996;16(6):543-8.
Adducted thumb
50. • Midline facial clefting
• Frontonasal dysplasia
• Associated eye & ear anomalies
• Deficient migration of neural crest
cells in lamina terminalis of
prosencephalon
• Eyes stay on side of head (lesser
mammals, fish, birds)
• Deficient formation of corpus
callosum
Primary hypertelorism
Mid sagittal facial cleft
51. Secondary hypertelorism
• Underlying skull defect:
• Anterior cephalocele
(commonest)
• Commonest in south-east
Asia
• Especially children of tea
garden workers in Assam
• Craniosynostosis
syndromes
Anterior cephalocele
60. Trivia Question
Who were the first television couple to be shown in bed
together on prime time television in the U.S.?
A. Fred and Wilma from “The
Flintstones”
B. Sam and Darren from “Bewitched”
C. Archie Bunker and Edith from “All in
the Family”
D. George and Joan from “The Jetsons”
61. Trivia Question
Who were the first television couple to be shown in bed
together on prime time television in the U.S.?
A. Fred and Wilma from “The
Flintstones”
B. Sam and Darren from “Bewitched”
C. Archie Bunker and Edith from “All in
the Family”
D. George and Joan from “The Jetsons”
62. Trivia Question
Who were the first television couple to be shown in bed
together on prime time television in the U.S.?
A. Fred and Wilma from “The
Flintstones”
B. Sam and Darren from “Bewitched”
C. Archie Bunker and Edith from “All in
the Family”
D. George and Joan from “The Jetsons”
63. Trivia Question
Who were the first television couple to be shown in bed
together on prime time television in the U.S.?
A. Fred and Wilma from “The
Flintstones”
B. Sam and Darren from “Bewitched”
C. Archie Bunker and Edith from “All in
the Family”
D. George and Joan from “The Jetsons”
64. Trivia Question
Who were the first television couple to be shown in bed
together on prime time television in the U.S.?
A. Fred and Wilma from “The
Flintstones”
B. Sam and Darren from “Bewitched”
C. Archie Bunker and Edith from “All in
the Family”
D. George and Joan from “The Jetsons”
65. Trivia Answer
A. Fred and Wilma from “The
Flintstones”
B. Sam and Darren from “Bewitched”
C. Archie Bunker and Edith from “All in
the Family”
D. George and Joan from “The Jetsons”
Who were the first television couple to be shown in bed
together on prime time television in the U.S.?
66. Pediatric cystic lesions
and masses
Caroline D. Robson, MBChB
Department of Radiology
Division of Neuroradiology
Boston Children’s Hospital
Harvard Medical School
Pediatric Interesting
Case Session
lisanilssonart.com
85. Most likely diagnosis?
A. Foregut duplication cyst
B. Thyroglossal duct cyst
C. Dermoid cyst
D. Lymphatic malformation
86. Most likely diagnosis?
A. Foregut duplication cyst
B. Thyroglossal duct cyst
C. Dermoid cyst
D. Lymphatic malformation
87. Foregut
duplication
cyst
T2 MR
Gd FS T1
DWI ADC
JAMA Otolaryngol Head Neck Surg. 2014 Nov;140(11):1065-9. doi: 10.1001/jamaoto.2014.2331.
Management of a large antenatally recognized foregut duplication cyst of the tongue causing respiratory distress at birth.
Gantwerker EA, Hughes AL, Silvera VM, Vargas SO, Rahbar R.
88. Look for:
- Mural nodularity
- Ca++ in TGDC
TGD cyst
Pap CA arising in TGDC
Sistrunk procedure
89. Midline cyst ddx
Vallecular cyst Foregut duplication cystDermoid cyst LM + heme
T2 MR shows low
signal due to heme
DWI ADC
116. Trivia Question
Test your Trump tweet knowledge. Which one of the below
is a FAKE?
A. “It’s freezing and snowing in New York - - we need
global warming!”
B. “Giving Canada their independence was one of the
biggest mistakes America ever made. If elected I
promise to #MakeCanadaAmericanAgain”
C. “Not only are wind farms disgusting looking, they
are bad for people’s health”
D. ”Despite the constant negative press covfefe”
117. Trivia Question
Test your Trump tweet knowledge. Which one of the below
is a FAKE?
A. “It’s freezing and snowing in New York - - we need
global warming!”
B. “Giving Canada their independence was one of the
biggest mistakes America ever made. If elected I
promise to #MakeCanadaAmericanAgain”
C. “Not only are wind farms disgusting looking, they
are bad for people’s health”
D. ”Despite the constant negative press covfefe”
AMERICAN
118. Trivia Question
Test your Trump tweet knowledge. Which one of the below
is a FAKE?
A. “It’s freezing and snowing in New York - - we need
global warming!”
B. “Giving Canada their independence was one of the
biggest mistakes America ever made. If elected I
promise to #MakeCanadaAmericanAgain”
C. “Not only are wind farms disgusting looking, they
are bad for people’s health”
D. ”Despite the constant negative press covfefe”
119. Trivia Question
Test your Trump tweet knowledge. Which one of the below
is a FAKE?
A. “It’s freezing and snowing in New York - - we need
global warming!”
B. “Giving Canada their independence was one of the
biggest mistakes America ever made. If elected I
promise to #MakeCanadaAmericanAgain”
C. “Not only are wind farms disgusting looking, they
are bad for people’s health”
D. ”Despite the constant negative press covfefe”
120. Trivia Question
Test your Trump tweet knowledge. Which one of the below
is a FAKE?
A. “It’s freezing and snowing in New York - - we need
global warming!”
B. “Giving Canada their independence was one of the
biggest mistakes America ever made. If elected I
promise to #MakeCanadaAmericanAgain”
C. “Not only are wind farms disgusting looking, they
are bad for people’s health”
D. ”Despite the constant negative press covfefe”
121. Trivia Answer
Test your Trump tweet knowledge. Which one of the below
is a FAKE?
A. “It’s freezing and snowing in New York - - we need
global warming!”
B. “Giving Canada their independence was one of the
biggest mistakes America ever made. If elected I
promise to #MakeCanadaAmericanAgain”
C. “Not only are wind farms disgusting looking, they are
bad for people’s health”
D. ”Despite the constant negative press covfefe”
AMERICAN
122. Pediatric Interesting
Case Session
Pediatric Temporal Bone
Timothy N. Booth, M.D.
Department of Radiology
Pediatric Neuroradiology
Children’s Health Dallas
University of Texas Southwestern
lisanilssonart.com
125. Select the best classification
A. Incomplete Partition type I
B. Incomplete Partition type II
C. Incomplete Partition type III
D. Incomplete Partition type IV
126. A. Incomplete Partition type I
B. Incomplete Partition type II
C. Incomplete Partition type III
D. Incomplete Partition type IV
Select the best classification
127. Incomplete Partition type II
• Imaging findings
• Lack of lateral notch (>1150
,<3mm)
• Distance osseous spiral
lamina to R2 septum
(>1.2mm)
• Associated ELD enlargement
• Scala communis
Booth TN, et al. Evaluation of the Normal Cochlear Second Interscalar Ridge Angle and Depth on 3D T2-Weighted Images:
A Tool for the Diagnosis of Scala Communis and Incomplete Partition Type II. AJNR 2018
Reinshagen KL, et al. Measurement for Detection of Incomplete Partition Type II Anomalies on MR Imaging. AJNR 2017
134. Granulocytic Sarcoma (Chloroma)
• Most common with AML
• Poor prognosis with established
dx
• Aggressive chemotherapy for
remission with initial presentation
• Imaging
• Look for restricted diffusion!
• Not necessarily destructive
135. Other Considerations
Rhabdomyosarcoma
Chevallier KM, et al. Differentiating Pediatric Rhabdomyosarcoma and Langerhans
Cell Histiocytosis of the Temporal Bone by Imaging Appearance. AJNR 2016
Langerhans Cell Histiocytosis
148. A. Oval window atresia
B. High riding jugular bulb
C. Round window atresia
D. Persistent stapedial a.
What is the cause of the
CHL?
149. A. Oval window atresia
B. High riding jugular bulb
C. Round window atresia
D. Persistent stapedial a.
What is the cause of the
CHL?
150. High Riding Jugular Bulb
• High riding, dehiscent,
protrusion or diverticulum
• Three mechanisms
• Interference with TM
• Ossicular chain contact
• Obstruction round window niche
Moore AM, et al. Conductive Hearing Loss From a Jugular Bulb Anomaly. Otol Neurotol 2017
156. What is the best diagnosis?
A. Normal variant
B. Osteogenesis Imperfecta
C. Retrofenestral
otosclerosis
D. Paget disease
157. A. Normal variant
B. Osteogenesis Imperfecta
C. Retrofenestral
otosclerosis
D. Paget disease
What is the best diagnosis?
158. Osteogenesis Imperfecta
• Genetic disorder of connective tissue
matrix
• Hearing loss in 50%
• All patterns (SNHL, CHL, mixed)
• Predominantly mild phenotype (type I,
tarda)
• Otosclerosis in older children and adults
• Fracture of ossicles
• Cochlear degeneration
• Don’t forget the round window
Alkadhi H, et al. Osteogenesis Imperfecta of the Temporal Bone: CT and MR Imaging in Van der Hoeve-de Kleyn Syndrome. AJNR 2004
160. 1 year old with normal cochlear cleft IAC diverticulum
Pippen KJ, et al. Prevalence of Internal Auditory Canal
Diverticulum and Its Association with Hearing Loss and
Otosclerosis. AJNR 2017
161. I do not have a case of pediatric
Paget disease!
Lymphohistiocytic chronic inflammation
162. Case 6
1 year old with suspected
Auditory Neuropathy
Spectrum Disorder
164. What is the best diagnosis?
A. Congenital disorder of
glycosylation
B. Dandy Walker malformation
C. Cytomegalovirus
D. Pontine tegmental cap
dysplasia
165. A. Congenital disorder of
glycosylation
B. Dandy Walker malformation
C. Cytomegalovirus
D. Pontine tegmental cap
dysplasia
What is the best diagnosis?
166. ANSD – Pontine Tegmental Cap
Dysplasia
• Normal cochlear outer hair function
• Disordered neural conduction deep to cochlea
• Difficult hearing noise
• Fluctuating
• Poor speech perception
• Imaging – high incidence of cochlear nerve and
hindbrain abnormalities
Huang BY, et al. Brain Stem and Inner Ear Abnormalities in Children with Auditory Neuropathy
Spectrum Disorder and Cochlear Nerve Deficiency. AJNR 2010
169. Trivia Question
A. Miami Beach, FL
B. San Francisco, CA
C. Atlanta, GA
D. New Orleans, LA
Where is the 1st Annual ASPNR Meeting in January 2019
going to be held?
170. Trivia Question
A. Miami Beach, FL
B. San Francisco, CA
C. Atlanta, GA
D. New Orleans, LA
Where is the 1st Annual ASPNR Meeting in January 2019
going to be held?
171. Trivia Question
A. Miami Beach, FL
B. San Francisco, CA
C. Atlanta, GA
D. New Orleans, LA
Where is the 1st Annual ASPNR Meeting in January 2019
going to be held?
172. Trivia Question
A. Miami Beach, FL
B. San Francisco, CA
C. Atlanta, GA
D. New Orleans, LA
Where is the 1st Annual ASPNR Meeting in January 2019
going to be held?
173. Trivia Question
A. Miami Beach, FL
B. San Francisco, CA
C. Atlanta, GA
D. New Orleans, LA
Where is the 1st Annual ASPNR Meeting in January 2019
going to be held?
174. Trivia Answer
A. Miami Beach, FL
B. San Francisco, CA
C. Atlanta, GA
D. New Orleans, LA
Where is the 1st Annual ASPNR Meeting in January 2019
going to be held?
175. ⚜️ Keynote lectures
⚜️ International session
⚜️ Rapid fire interesting cases
⚜️ Oral abstracts and posters
⚜️ Gala jazz cruise
⚜️ Fun, fun, fun
www.aspnr.org
Twitter
Facebook
Instagram
176. Pediatric Interesting
Case Session
Aylin Tekes, MD.
Associate Professor of Radiology and
Radiological Sciences, JHH
Division of Pediatric Radiology, Section of
Pediatric Neuroradiology
Soft Tissue Vascular
Anomalies in the
Pediatric Head and Neck
178. What is the most commonly used
classification system for vascular
anomalies?
A. ISSVA (International Society for the
Study of Vascular Anomalies)
B. WHO (World Health Organization)
C. Weiss and Enzinger
D. Hamburg
179. What is the most commonly used
classification system for vascular
anomalies?
A. ISSVA (International Society for the
Study of Vascular Anomalies)
B. WHO (World Health Organization)
C. Weiss and Enzinger
D. Hamburg
180. • Multidisciplinary care is essential for diagnosis and management of VA
• All disciplines involved in the care can use ISSVA classification and
common language aids in proper communication, prompt diagnosis and
management
– Morbidity and treatment differs significantly between different groups of
vascular anomalies
Why ISSVA classification?
181. Presented in part at the 3rd international workshop for the study of vascular anomalies, on June 6, 1980, at St. Thomas Hospital London
Plast Reconstr Surg. 1982 Mar;69(3):412-22.
182. Presented in part at the 3rd international workshop for the study of vascular anomalies, on June 6, 1980, at St. Thomas Hospital London
Plast Reconstr Surg. 1982 Mar;69(3):412-22.
186. Misleading term
• Strawberry hemangioma
• Capillary hemangioma
• Cavernous hemangioma
• Port wine stain
• Lymphangioma
Appropriate term
Infantile hemangioma
Infantile hemangioma
Venous malformation
Capillary malformation
Lymphatic malformation
Phleboliths are seen in
VENOUS MALFORMATIONS!
187. • Strawberry hemangioma
• Capillary hemangioma
• Cavernous hemangioma
• Port wine stain
• Lymphangioma
Infantile hemangioma
Infantile hemangioma
Venous malformation
Capillary malformation
Lymphatic malformation
Misleading term Appropriate term
188. • Strawberry hemangioma
• Capillary hemangioma
• Cavernous hemangioma
• Port wine stain
• Lymphangioma
Infantile hemangioma
Infantile hemangioma
Venous malformation
Capillary malformation
Lymphatic malformation
Misleading term Appropriate term
189. • Strawberry hemangioma
• Capillary hemangioma
• Cavernous hemangioma
• Port wine stain
• Lymphangioma
Infantile hemangioma
Infantile hemangioma
Venous malformation
Capillary malformation
Lymphatic malformation
Misleading term Appropriate term
190. • Strawberry hemangioma
• Capillary hemangioma
• Cavernous hemangioma
• Port wine stain
• Lymphangioma
Infantile hemangioma
Infantile hemangioma
Venous malformation
Capillary malformation
Lymphatic malformation
Misleading term Appropriate term
191. • Strawberry hemangioma
• Capillary hemangioma
• Cavernous hemangioma
• Port wine stain
• Lymphangioma
Infantile hemangioma
Infantile hemangioma
Venous malformation
Capillary malformation
Lymphatic malformation
Phleboliths are seen in
VENOUS MALFORMATIONS!
Misleading term Appropriate term
192. Case 2
4 month old female with left neck
mass demonstrating rapid growth
193. A. Infantile hemangioma
(IH) and spontaneous
resolution
B. Capillary hemangioma
and surgery
C. Cavernous hemangioma
and embolization
D. Rhabdomyosarcoma
T2, +FS
T1, +FS, -C T1, +FS, +C
T2, +FS
What is the most likely diagnosis
and treatment?
194. A. Infantile hemangioma
(IH) and spontaneous
resolution
B. Capillary hemangioma
and surgery
C. Cavernous hemangioma
and embolization
D. Rhabdomyosarcoma
What is the most likely diagnosis
and treatment?
T2, +FS
T1, +FS, -C T1, +FS, +C
T2, +FS
195. T1, +FS, +C
Infantile Hemangioma
• T2 bright, solid,
homogenously
enhancing
• No peritumoral edema
• Serpiginous flow voids
representing arterial
feeders
• Enhancement starts in
the arterial phase on
dynamic MRA
T2, +FS
TWIST
196. • The most common tumor of infancy
• Appears in the first few weeks of life, not
present at birth!
• Most commonly located in the H&N(60%)
• Risk factors: white newborns, females,
and prematurity
• Sporadic
• Stain positive for immunologic markers
such as Glucose transporter 1 (Glut-1)
and S-100
• Glut-1 is also positive in endothelial cells of
the placenta
T2, + FS
Infantile Hemangioma
197. • Proliferative phase:
• Increased endothelial turnover & mast cells
• ~ all IH double in size during the 1st 2 mo
• 80% of the growth occurs by 3 mo
• 80% have completed growth by 5 mo
• Involuting phase:
• thinning of endothelial lining
• Involuted phase:
• >90% complete involution by 3.5-4 yo
IH: Natural history
200. IH: The Propranolol Era
Beta-
blockers
Propranolol,
Timolol,
Atenolol, Nadolol
Wound
care
(ulcer)
Systemic
steroids
IL
and/o
r
topica
l
steroi
ds
PDL
Surgery
Interferon
Vincristine
c/o Kate Puttgen, MD.
201. • Vasoconstriction of supplying capillaries
• Visible color change in first 48 hours
• From decreased release of nitric oxide
• Inhibition of angiogenesis
• Effects on pro-angiogenic growth factors,
VEGF & bFGF, MMP-2 & MMP-9
• Arrest of growth
• Induction of apoptosis
• Regression of IH
• Response rate: 98%
• Propranolol resistant IH; 0.9% Brit J Dermatol, 2010 163, pp269–274
How propranolol works?
202. Case 3
45 day old infant coming from the
Middle East for a rapidly growing
mass
DAY OF LIFE 1
4 WEEKS OF LIFE
203. T2
T1+C
What is the most likely diagnosis?
A. Congenital hemangioma
B. PHACES
C. Congenital malignant rhabdoid
tumor
D. Kaposiform hemangioendothelioma
204. A. Congenital hemangioma
B. PHACES
C. Congenital malignant rhabdoid
tumor
D. Kaposiform hemangioendothelioma
HETEROGENOUS T2 SIGNAL AND ENHANCEMENT!
T2
T1+C
What is the most likely diagnosis?
206. DDX: Congenital Hemangioma: RICH
Newborn, prenatally diagnosed with a facial mass
T2 T1 +CT1
newborn 10 mo2 mo
Solid T2 bright, enhancing mass, infiltrating the skin with somewhat irregular inner contours
Progressive reduction in size over time along with normalization of the skin color: rapidly involuting
207. DDX: Locally aggressive vascular tumor:
Kaposiform Hemangioendothelioma
T2, +FS
arterial
T1 +FS +C
venous
Medscape e medicine
Typical KHE for comparison
Coagulopathy!
Our Patient
212. A. Venolymphatic
malformation
B. Venous malformation
C. Lymphatic malformation
D. Arteriovenous malformation
T2+FS
T1 +C
What is the most likely diagnosis?
213. A. Venolymphatic
malformation
B. Venous malformation
C. Lymphatic malformation
D. Arteriovenous malformation
T2+FS
T1 +C
What is the most likely diagnosis?
214. T2+FS
T1 +C
• Infiltrative, doesn’t respect tissue planes
• T2 bright lesion intersepted with fibrous fatty tissue
• Heterogenous (variable) contrast enhancement
Venous Malformation
PHLEBOLITHS!
• Localized intravascular coagulopathy
• Occurs in ½ of patients with large
and/or multifocal VMs
• D-dimer level ↑
• Fibrinogen level ↓
216. T2 T1
T1 +C Subtraction
TWIST
Large, macrocystic mass in the posterior cervical
triangle with fluid-fluid levels (not specific!)
Only peripheral cyst wall and septa enhance
No arterial or venous enhancement
Note the displacement of the external
jugular vein due to mass effect
3 yo presents with an enlarging left lower neck mass which was present at birth
DDX: Lymphatic malformation
217. Entensive, infiltrative, mixed type (macro and microcystic) LM
T2
HASTE
T1, -C T1, +C
Internal hemorrhage can be noted within the cysts
Only peripheral contrast enhancement of the cysts are noted!
DDX: Lymphatic malformation
218. T2 T1
T1 +C Subtraction
TWIST
T2 dark, serpiginous flow voids infiltrating subcutaneous
fat of the right cheek. Note the increased T2 signal in the
surrounding soft tissues and enhancement
12 yo presenting with pulsatile mass in the right face
Early arterial enhancement with feeders
from ECA. Note the nidus formed by the
tangle of vessels
DDX:Arteriovenous Malformation
222. T2
T1-C T1+C+FS
A. Radiation
B. Surgery
C. Sirolimus
D. Evarolimus
Which of the following would offer the best
treatment response when sclerotherapy is no longer
an option for this patient?
223. Macro- and Micro-cystic
LM
T2
T1-C T1+C+FS
A. Radiation
B. Surgery
C. Sirolimus
D. Evarolimus
Which of the following would offer the best
treatment response when sclerotherapy is no longer
an option for this patient?
226. Journal of the American Academy of Dermatology 2015 72, 879-889DOI: (10.1016/j.jaad.2015.01.014)
227. What is the most likely genetic mutation in
this patient?
A. PIK3CA
B. PTEN
C. LIS-1
D. TSC-1
228. CLOVES
Congenital, Lipomatous, Overgrowth, Vascular
Malformations, Epidermal Nevi and Spinal/Skeletal
Anomalies and/or Scoliosis
What is the most likely genetic mutation in
this patient?
A. PIK3CA
B. PTEN
C. LIS-1
D. TSC-1
229. PIK3CA RELATED OVERGROWTH SPECTRUM
• Group of disorders with overlapping
clinical features
• Somatic gain of function mutations
• PIK3/AKT/mTOR pathway
• Vascular anomalies, hemihypertrophy
or segmental hypertrophy, lipomatous
overgrowth, skeletal anomalies, and
megalencephaly
Vahidnezhad H et al. Br J Dermatol. 2016 Oct;175(4):810-4.
230. Am J Med Genet A. 2015 Feb; 0(2): 287–295.
Klippel-Trenaunay
232. Trivia Question
A. Montreal, Toronto, Vancouver
B. Montreal, Calgary, Vancouver
C. Calgary, Quebec, Toronto
D. Calgary, Quebec, Vancouver
In which 3 Canadian cities have the winter Olympics been
held?
233. Trivia Question
A. Montreal, Toronto, Vancouver
B. Montreal, Calgary, Vancouver
C. Calgary, Quebec, Toronto
D. Calgary, Quebec, Vancouver
In which 3 Canadian cities have the winter Olympics been
held?
234. Trivia Question
A. Montreal, Toronto, Vancouver
B. Montreal, Calgary, Vancouver
C. Calgary, Quebec, Toronto
D. Calgary, Quebec, Vancouver
In which 3 Canadian cities have the winter Olympics been
held?
235. Trivia Question
A. Montreal, Toronto, Vancouver
B. Montreal, Calgary, Vancouver
C. Calgary, Quebec, Toronto
D. Calgary, Quebec, Vancouver
In which 3 Canadian cities have the winter Olympics been
held?
236. Trivia Question
A. Montreal, Toronto, Vancouver
B. Montreal, Calgary, Vancouver
C. Calgary, Quebec, Toronto
D. Calgary, Quebec, Vancouver
In which 3 Canadian cities have the winter Olympics been
held?
237. Trivia Answer
A. Montreal, Toronto, Vancouver
B. Montreal, Calgary, Vancouver
C. Calgary, Quebec, Toronto
D. Calgary, Quebec, Vancouver
In which 3 Canadian cities have the winter Olympics been
held?
