Download Poland Syndrome

Harvard Medical School
Poland Syndrome
Agnieszka Janisiewicz, HMSIII
Gillian Lieberman, MD
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Clinical Case: Patient A.M.
• 82 year old female presented in 2004 for a
routine mammogram
• Breast asymmetry since adolescence
Previously on HRT
• Has had routine yearly screening mammo
at BIDMC since 1991
– difficulty with imaging
– BIRADS1
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Mammogram
• Technique: X-Ray generate images of compressed
breast
• Patient Preparation: no powder, deodorant, or lotion
on day of procedure, ideally in early stage of
menstrual cycle
• Standard Views:
• Cranio-caudal (CC)
• Medio-Lateral-Oblique (MLO)
• ROI: CC: entire breast, QC: posterior fat pad
MLO: entire breast, QC: pectoralis major (extend to nipple)
Valerie Fein-Zachary, M.D. HMS BI Core Radiology lecture 2006
www.primarycareradiology.com
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Mammogram (cont.)
• Benefits: high accuracy (77-80%), inexpensive ($80$100)
• Relative Contraindications: pregnant women,
<30 y.o., <1 wk. post-surgery, breast
reconstruct/mastectomy site
• Limitations: patient discomfort,
negative mammo does NOT rule out CA,
dense breasts and breast tissue adjacent to chest
wall/axilla are difficult to evaluate
www.primarycareradiology.com
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Breast Imaging Reporting
and Data System (BIRADS)
SCORE
ACTION
0 incomplete assesment: need
US, additional images, or
comparison to prior films
If 0: Additional information
needed-US, more images,
compare to prior films
1 negative
If 1-2: Image in 1 year
2 benign findings
3 probably benign
If 3: Follow up in 6mo
4 suspicious lesion
If 4-6: Take appropriate action –
Bx or Sx
5 probably CA
6 known malignancy
Valerie Fein-Zachary, M.D. HMS BI heart Radiology lecture 2006
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Patient A.M. Mammogram 2004
lateral
lateral
CC
R
L
medial
medial
superior
superior
• Breast
Asymmetry
MLO
R
Inferior
L
• Absent pec?
Inferior
PACS, BIDMC
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Differential Diagnosis
Unilateral breast asymmetry and
suspected absence of pectoralis major
•
Breast Asymmetry
– Unilateral decrease in size
ÆBreast hypoplasia
ÆAmastia
ÆAthelia
– Unilateral increase in size
•
Chest Asymmetry
Æ Thoracic hemivertebrae
ÆCHILD Syndrome: hemihypertrophy
•
Combination of Chest and Breast Asymmetry:
ÆPoland Syndrome
•
Other
ÆProgeria
http://www.thefetus.net/page.php?id=434
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Pectoralis Major: Quick Review
Origin: Sternal half of the clavicle, sternum to 7th
rib, cartilages of true ribs, aponeurosis of
external oblique
Insertion: Lateral lip of bicipital groove of the
humerus
Function: Adducts, extends, internally rotates
upper limb
Innervation: medial and lateral pectoral nerve
Vascular supply: pectoral branch of
thoracoacromial artery and the internal
mammary artery
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Patient A.M.
Significant Past Medical History
• Breast deformity “familial in pattern according to
patient”
• Hepatic hemagioma (date N/A)
• Claudication (date N/A)
• 2 weeks lightheadedness, nystagmus,
changes in peripheral vision and gait, memory
loss Æ evaluated for vascular abnormalities
(2000)
• 3 mo. Hx of LEFT hand/arm swelling Æ
evaluated for subclavian vessel abnormality
(2001)
Agnieszka Janisiewicz
Gillian Lieberman, M.D
•
Magnetic Resonance
Imaging
Technique: magnetic field is used to align protons (mainly contained in Hydrogen
in body), radiofrequency pulse then puts protons in higher energy state, when
protons return to equilibrium state coil-detectors capture the radiofrequencies
emitted. Different tissue = different [H] = different signal intensity
•
•
•
•
Patient Preparation: NPO 2-4hr if w/ contrast, sedation for anxious
patients, IM glucagon to decrease intestinal motility
Standard Image Planes: axial, saggital, coronal, and oblique planes
Image Acquisition Protocols:
1. T1 W- CSF = black, discharge of returning to original spatial
of spin vector of proton for ANATOMY
2. T2 W - CSF = white, discharge as a consequence of loss of
coherence of processing protons for EDEMA/PATH
3. Time of Flight - FLOW-RELATED enhancement of spins
entering into an imaging slice, subtract stationary
signal
ROI: depends on region of body imaged
www.primarycareradiology.com
Agnieszka Janisiewicz
Gillian Lieberman, M.D
MRI (cont.)
• Benefits: great soft tissue contrast, imaging in many
planes
• Contraindications: ferromagnetic metallic devices,
cochlear implants, pacemakers
• Limitations:
– Practical
• Limited availability of machines
• Size - obese patients
• Claustrophobia
– Technical
• Insenstivity to calcification and bone findings
• Artifact from dental or other hardware
• Motion sensitivity
www.primarycareradiology.com
Agnieszka Janisiewicz
Gillian Lieberman, M.D
3D Reconstruction: Time of Flight
MR (2000)
Patient A.M.
Normal
PACS, BIDMC
Patient A.M.: Vessel Hypoplasia
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Right ACA
Hypoplastic Left ACA
Right MCA
Left MCA
Left ICA
Right ICA
Basilic
Hypoplastic Right Vertebral
Artery
Left Vertebral Artery
PACS, BIDMC
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Patient A.M.
Additional Findings (2000)
L parotid gland absent
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Patient A.M. T2W MR of Chest
(Axial, 2001): absent pectoralis major and minor
PACS, BIDMC
Patient A.M. T2W MR of Chest
(Axial, 2001): absent pectoralis major and minor,
Agnieszka Janisiewicz
Gillian Lieberman, M.D
breast hypoplasia
PACS, BIDMC
Patient A.M. T2W MR of Chest
(Axial, 2001): absent pectoralis major and breast
Agnieszka Janisiewicz
Gillian Lieberman, M.D
hypoplasia
PACS, BIDMC
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Patient A.M. T1W FS MR Gd+ of
Chest (Coronal, 2001): breast assymetry
Contrast imaging showed no thrombus or
occlusion
PACS, BIDMC
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Review of Findings
• Unilateral hypoplasia of left breast and nipple
• Absence of ipsilateral pectoralis major
• Absence of ipsilateral pectoralis minor
• Vascular hypoplasia
• Absence of ipsilateral parotid gland
Other classical findings related to this syndrome:
• Aplasia or deformity of ipsilateral costal cartilage or ribs
II- IV or III-V
• Alopecia of ipsilateral axillary and mammary region
• Ipsilateral brachysyndactyly “mitten hand” (phalanges 1,
3, 4)
Fokin et. Al. (2002)
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Diagnosis
Poland Syndrome
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Etiology
•
Etiology: Ævascular event, subclavian artery supply disruption
•
•
•
Incidence 1:7,000 to 1:100,000 births
Sex Ratio Æ M:F Æ 2:1 to 3:1 (Folin et. Al. (2002))
Environ. Factors Æ maternal smoking 2-fold inc. risk (Martinez-Frias et. Al. (1999))
sequence (SASDS), during the critical 6th week of gestation with hypoplasia
of the subclavian artery causing musculoskeletal malformations
Æ this occurs when the medial and forward growth of the ribs forces the
subclavian vessel into a U-shaped configuration
Æmore proximal occlusions result in more severe syndromes
Æ Maternal sex hormone intake & vaginal bleeding in 1st trimester?
(Castilla et. Al. (1979))
•
Genetics Æ mostly sporadic
Æ some familial cases: multifactorial w/ 2 predisposing fatctors
1. aberrant vascular formation
2. thrombophilia (Shalev and Hall (2003))
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Findings with Poland Syndrome
http://www.polands-syndrome.com/
www.sindromedipoland.org
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Chest Wall Deformity
http://www.operationrestorehope.org/gallery/images/post-polands-syndrome1.jpg
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Companion Patient #1 Chest X-Ray:
left breast abnormality and pectoralis major
aplasia
PA
LL
PACS, BIDMC
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Companion Patient #2 Chest
X-Ray: 6th Rib Deformity
LL
PA
PACS, BIDMC
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Companion Patient #3 CT w/
Contrast: Aplasia of Pectoralis Major and
Minor w/ No Chest Wall Deformity
PACS, BIDMC
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Companion Patient #4 CT w/
contrast: Chest Wall Deformity
and Missing Pectoralis Major
Axial
PACS, BIDMC
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Syndactyly in Poland Syndrome
Ailiwadi et. Al. (2005)
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Clinical Consequences of
Poland Syndrome
• Paroxysmal movements of the chest wall
due to the malformation
• Reduction of lung capacity
• Lack of vital organ protection
• Muscular weakness
• Chest scoliosis
• Hand malfunction
• Psychological problems
Fokin et. Al. (2002)
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Vascular Anomalies and Poland
Syndrome
• VASCULAR HYPOPLASIA: present in
diseased side (Beer et. Al. (1996))
Æ pre-operative CT suggested for
patients undergoing CABG to verify
patency of LIMA (left internal mammary artery)
Æ Case- Study: apparently normal
LIMA lead to unremarkable post-op course
(Aliwadi et. Al. (2005))
• HEMANGIOMA (Riyaz and Riyaz (2006))
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Importance of Diagnosis!
• Patient A.M. also had:
– ANGINA
– ELEVATED CHOLESTEROL
– HTN
– PERIPHERAL ARTERY DISEASE
Potential future candidate for CABG
• Important to know status of vasculature: pre-op CT
angiogram
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Treatment Options for Poland
Syndrome
• Prenatal screening for Poland synd. by
ultrasound (22 wks) (Paladini et. Al. (2004))
• Corrective Surgery
– Mammoplasty
• Breast Implants (saline, silicone)
• Muscle flaps (Fokin et. Al. (2002))
– Thoracoplasty
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Companion Patient #5 Corrective
Breast Surgery: 71 y.o. female with Poland Syndrome
post- elective contralateral breast reduction, ipsilateral breast
implantation (Mammo MLO view)
PACS, BIDMC
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Fun Facts: Is Poland Syndrome
named after the country?
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Answer: NO!
It is named after Sir Alfred
Poland.
• 1841 Alfred Poland, then a British studentdemonstrator in anatomy in London,
described a cadaver in the Guy’s Hospital
Gazette
– lack of pectoralis major and minor muscles
– ipsilateral syndactyly of phalanx 1, 3, 4
• 1861 promoted to surgeon status
• 1867 died of pulmonary TB
Fokin, et. al. (2002)
Agnieszka Janisiewicz
Gillian Lieberman, M.D
Acknowledgments
• Fabio Komlos, M.D.
• Gillian Lieberman, M.D.
• Pamela Lepkowski
Agnieszka Janisiewicz
Gillian Lieberman, M.D
References
•
Ailiwadi M, Arildsen RC, Greelish JP, and T Nasville (2005) “Poland Syndrome: A
contraindication to the use of the internal thoracic artery in coronary artery
bypass grafting?” J Thorac and Cardiovasc Surg; August: 578-9.
•
Beer GM, Kompatscher P, and K Hergan. (1996) “Poland’s syndrome and
vascular malformations.” British Journal of Plastic Surgery; 49:482-4.
•
Castilla EE, Joaquin EP, and IM Orioli. (1979) “Pectoralis Major Muscle Defect and
Poland Complex.” Am J of Med Genetics; 4:263-269.
•
Fein-Zachary, V (2006) “Breast Imaging 2006” Lecture HMS BI Core
Radiology Clerkship.
•
Fokin AA, and F Robicsek. (2002) “Poland’s Syndrome Revisited.” Ann Thorac
Surg; 74:2218-25.
•
Martinez-Frias ML, Czeizel AE, Rodriguez-Pinilla E, and E Bermejo. (1999)
“Smoking During Pregnancy and Poland Sequence: Results of a PopulationBased Registry and a Case-Control Registry.” Teterology; 59:35-38.
•
PACS, BIDMC
Agnieszka Janisiewicz
Gillian Lieberman, M.D
References (cont.)
•
Paladini D, D’Armiento MR, and P Martinelli. (2004) “Prenatal Ultrasound
Diagnosis of Poland Syndrome.” Obstetrics & Gynecology; Vol 104, 5:1156-9.
Riyaz N, and A Riyaz. (2006) “Poland syndrome (anomaly) with congenital
hemangioma: A new association.” Indian J Dermatol Venereol Leprol; Vol 72,
3:222-3.
•
Samuels TH, Masoom AH, and P Kirkbride. (1996) “Poland Syndrome: A
Mammographic Presentation.” Am J Radiology; 166:347-8.
•
Shalev S and Hall JG. (2003) “Poland Anomaly- Report of Unusual Family.” Am J
of Med Genetics; 118A:180-3.
•
www.primarycareradiology.com
•
www.polands-syndrome.com
•
www.sindromedipoland.org
•
www.thefetus.net/page.php?id=434