Pediatric. Vascular Anomalies. Rameez Qudsi, Harvard Medical School. Gillian
Lieberman, MD. Beth Israel Deaconess Medical Center. Children's Hospital ...
Pediatric Vascular Anomalies Rameez Qudsi, Harvard Medical School Gillian Lieberman, MD Beth Israel Deaconess Medical Center Children’s Hospital Boston
Agenda • • • • • •
Index Patient Introduction Disease Classification Disease Descriptions Imaging Workup Treatment Options Interventional Management
Index Patient: Baby B.G. • History • 2 mo M with left neck mass first seen prenatally at 37wk U/S. Pt born via c/s at 39wk, otherwise unremarkable birth. Lesion has not changed size since birth. No problems with growth, airway, feeding.
• Physical Exam
Companion Patient #1
• AVSS, boggy, 5x6cm left neck mass, no overlying rash, warmth, or bruit.
• Brief Differential Diagnosis • • • • •
Vascular anomaly – most likely Infection - smaller, transient, usually after birth Solid tumor - (benign/malignant) – usually firm, midline Branchial cleft cyst - later age, firm, smaller Thyroglossal duct cyst - later age, central location
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ISSVA Classification z
ISSVA - Int’l. Society for the Study of Vascular Anomalies z
z
Drs. Mulliken & Glowacki - Children’s Hospital Boston
Biologic Classification – differing course & treatments Tumor vs Malformation • “oma” = proliferation
• abnormal morphogenesis
• ↑ EC turnover / hyperplasia, thick BM
• Normal EC, BM, pathology
• ↑ Surface markers VEGF, bFGF, (PCNA)
• Minimal surface marker expression
• Usually infancy/childhood
• Present at birth
• Naturally involuting
• Naturally persistent
• >3:1 female:male
• 1:1 female:male
Classes of Congenital Vascular Anomalies z
Tumors z
Hemangiomas z
Infantile
z
Congenital
z
Tufted Hemangioma
z
Hemangioendothelioma
z
Acquired dermatologic
z
Other syndromes
z
Malformations z
z
z z z
Capillary z Dermatologic z Superficial laser tx Lymphatic z Microcystic z Macrocystic Venous Arterial / Arteriovenous Combined Forms / Syndromes
Hemangioma z
Benign endothelial cell tumor z Tightly packed mass of vascular channels’ z 2 main types
z
1. Infantile Hemangioma z z
Usually has overlying patch of redness (superficial) Most common tumor of infancy/childhood z z
z
z
4-10% prevalence in Caucasian infants 3-5:1 females:males
Appears weeks/months after birth Natural course - 3 stages z z z
1. Proliferating - first year 2. Involuting - few years 3. Involuted - most resolved by age 10
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Hemangioma (cont.) z
2. Congenital Hemangioma z Blue/gray hue w/ pale halo (skin) z Rare (compared to infantile) z Present at birth z 2 types z
1. Non-Involuting (NICH) - persistent
z
2. Rapidly Involuting (RICH) - resolved by 1-2 yrs
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z
Complications z Ulceration, bleeding, infection, obstruction/displacement of organs, high-output cardiac failure due to high flow/shunting
z
There are NO new-onset adult hemangiomas
Lymphatic Malformation (LM) z z z z z
Collection of lymph-filled channels/cysts Present at birth (5-6 wks G.A.) ↑ Swelling w/ infections Soft w/ no overlying rash Most common: z z z
z
1. head/neck 2. extremities/axilla 3. trunk
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2 Types
1. Microcystic: multiple small vesicles z 2. Macrocystic: few large septated cysts z Complications: infection, bleeding, obstruction/displacement of organs, overgrowth of involved tissue z
z
A.K.A. - “cystic hygroma”, “lymphangioma”
Venous Malformation (VM) z
Thin-walled, dilated veins z
z
Present at birth z
z Companion Patients #2 and #3
z
z
z
VM growth proportional to child’s growth Possible association with trauma, hormones
Complications z
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Often unseen until symptomatic in childhood
Soft w/ bluish skin hue Waxing/waning size and symptoms z
z
Inadequate smooth muscle layer
Thrombosis, bleeding
A.K.A. - “cavernous hemangioma”
Arterio-Venous Malformation (AVM) z
z z z
High-flow arterio-venous communication - absence of developed capillary bed Present at birth Reddish vascular hue (skin), often warm Complications z
z
Bleeding, compression / displacement of organs, high-output cardiac failure
Seen in hereditary hemorrhagic telangiectasia (Osler-WeberRendu)
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Baby B.G. - Focused DDx z z
Review: soft left neck mass since birth, no change in size, no warmth/redness Narrowed Differential Diagnosis? z
Vascular anomaly z
Hemangioma?
z z z
Infantile? - No - present since birth Congenital? – Possible – too soon to distinguish NICH vs RICH
Lymphatic? – Possible Venous? - Less likely but possible - no growth but only 2 months old, no bluish hue but not always present Arterial / AV? - Less likely - no warmth/redness
With a focused differential diagnosis based on history and physical, we proceed to radiologic imaging to further characterize our patient’s vascular malformation.
Imaging Options for Vascular Malformations z
Ultrasound z
z
MRI z
z
Critical, often definitive
Radiographs z z
z
Assess flow pattern
Limited benefit - bony structures, calcification Quick and Cheap
Angiography
Imaging Workup Decision Tree
High flow
Mass-like
Hemangioma
MRI No mass
AVM
Ultrasound Low flow
MRI
Diffuse enhancement with contrast No/rim enhancement with contrast
Venous
Lymphatic
Ultrasound Reference Images z
High Flow Lesions z z
Hemangioma Arterio-venous Malformation PACS, CHB, courtesy Dr. C. Johnson
z
Low Flow Lesions z z
Lymphatic Malformation Venous Malformation PACS, CHB, courtesy Dr. G. Chaudry
MRI Findings Table Hemangioma
AVM
Lymphatic
Venous
T1
Isointense
Isointense
Hypointense
Hypo/isointense
T2
Hyperintense
Hyperintense
Hyperintense
Hyperintense
Post-contrast
Intense enhancement
Intense enhancement
No / Rim enhancement
Diffuse enhancement
MRI Images - High Flow Lesions Axial MRI, T1
Axial MRI, T2 with fat saturation
*
Enjolras et al, Color Atlas of Vascular Tumors and Vascular Malformations, Cambridge Univ. Press 2007.
z
Hemangioma z
PACS, CHB, courtesy Dr. C. Johnson
z
Arterio-Venous Malformation z
Protruding mass (*)
z
No mass Flow voids – high-speed flow
Hemangioma
AVM
Lymphatic
Venous
T1
Isointense
Isointense
Hypointense
Hypo/isointense
T2
Hyperintense
Hyperintense
Hyperintense
Hyperintense
Post-contrast
Intense enhancement
Intense enhancement
No / Rim enhancement
Diffuse enhancement
MRI Images - Low Flow Lesions Sagittal MRI, upper extremity T1 T1 post-contrast T2
Axial MRI T1 post-contrast w/ fat sat.
T1
*
www.imaging.consult.com
*
PACS, CHB, courtesy Dr. H. Padua * Representative non-contrast image
PACS, CHB, courtesy Dr. C. Johnson
z
Venous Malformation z
z
Diffuse enhancement w/ contrast
Lymphatic Malformation z
Septal (Left) / Rim (Rt) enhancement
Hemangioma
AVM
Lymphatic
Venous
T1
Isointense
Isointense
Hypointense
Hypo/isointense
T2
Hyperintense
Hyperintense
Hyperintense
Hyperintense
Post-contrast
Intense enhancement
Intense enhancement
No / Rim enhancement
Diffuse enhancement
Radiographic / (CT) Findings Left upper extremity z z
Generally of limited use Phleboliths seen w/ X-ray z
Calcifications z
z
Enjolras et al, Color Atlas of Vascular Tumors and Vascular Malformations, Cambridge Univ. Press 2007.
Post venous thrombus
Suggest Venous malformations
Angiography z z z
Performed to characterize AVM architecture Encouraged prior to any injected therapy No longer necessary for diagnosis of venous malformation Arterio-venous malformation, Left thigh
PACS, CHB, courtesy Dr. C. Johnson
Venous malformation, Rt upper extremity PACS, CHB, courtesy Dr. Watanabe
Baby B.G.’s Radiologic Studies and Diagnosis PACS, CHB, courtesy Dr. Padua
Radiograph
Ultrasound L Neck
Ultrasound w/ Doppler
• No phlebolith • Low flow • Large cysts • T1 hypointense Axial MRI L Neck, T1 (contrast study not performed at outside referring hospital)
Axial MRI L Neck, T2
• Final Diagnosis?
Macrocystic Lymphatic Malformation
Further Workup Options z
Biopsy z
z
Aspirate of lesion z z
z
Pathology / Microbiology Blood vs Lymph Pathology / Microbiology
Molecular Markers z z
Of lesion sample Of patient’s serum/urine
Treatment Options z z
Observation Dermatologic z
z
Pharmacologic z
z z
Laser therapy – capillary malformation Hemangioma – steroids, IFN-α, vincristine
Surgical (excision) Interventional Radiology (IR): minimally invasive z z
Sclerotherapy - LM & VM (low-flow lesions) Embolization - AVM
Sclerotherapy Overview z z
Primary IR treatment for VM/LM Intralesional injection of irritant/sclerosant z z
z
U/S & fluoroscopically guided Induces fibrosis, contraction over 4-8 weeks
Sclerosants z z
Doxycycline: sufficient for LM Bleomycin: experimental for microcystic LM z
Theoretical concern for systemic effects – pulmonary fibrosis
z
Sodium Tetradecyl Sulfate (STS): detergent for VM/LM
z
OK-432: experimental, lyophilized S. pyogenes cells EtOH: avoided in children
z
Sclerotherapy Setup
Dr. Konez, http://www.birthmarks.us/sclerotherapy.htm
U/S Pre & Post VM Sclerotherapy
PACS, CHB, courtesy Dr. C. Johnson
U/S Normal Muscle Fascicular horizontal lines noted
U/S Pre STS Venous channels circled, fibrotic (grainy echogenicity) muscle surrounding
4-6wks Post Sclero Reduced channel size, sclerotic/fibrotic muscle surrounding
Baby B.G. Sclerotherapy: Left Neck Ultrasound
Lymphatic Macrocyst (Fluid = black)
*
Injection Doxycycline after fluid aspiration
U/S guided needle insertion
*
PACS, CHB, courtesy Dr. Padua
Post injection
Baby B.G. Sclerotherapy: Fluoroscopy
*
PACS, CHB, courtesy Dr. H. Padua
Fluoroscopy – Doxycycline injection of cyst
Post injection with contrast/sclerosant filled cyst
Pre & Post Doxycycline for LM Companion Patient #4
P. Burrows et al. Percutaneous sclerotherapy of lymphatic malformations with doxycycline. Lymphatic Research and Biology. December 2008, 6(3-4): 209-216.
Representative images of neck lymphatic malformation pre and 2 years post sclerotherapy with doxycycline
Pre & Post Sclerotherapy for VM Companion Patient #5
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Summary z z
Classification: Tumor vs Malformation Imaging Workup z z
z
1. Ultrasound - High vs Low Flow 2. MRI - T2/T1, contrast enhancing (blood), flow voids (high flow) Hemangioma
AVM
Lymphatic
Venous
T1
Isointense
Isointense
Hypointense
Hypo/isointense
T2
Hyperintense
Hyperintense
Hyperintense
Hyperintense
Post-contrast
Intense enhancement
Intense enhancement
No / Rim enhancement
Diffuse enhancement
Treatment: Pharmacologic, Surgical, Interventional z z z z
Hemangioma - Steroids Lymphatic Malformation - Surgery / Sclerotherapy (Doxycycline) Venous Malformation - Surgery / Sclerotherapy (STS) Arterial - Embolization
Acknowledgements z z z z z z z z z
Dr. Craig Johnson – CHB IR Dr. Meguru Watanabe – CHB IR Dr. Horacio Padua – CHB IR Dr. Gulraiz Chaudry – CHB IR Dr. Ahmad Alomari – CHB IR Dr. Steven Fishman – CHB Surgery Dr. Diana Rodriguez – CHB Radiology Dr. Gillian Lieberman – BIDMC Radiology Maria Levantakis – BIDMC Radiology
References z z z z
z z
z z
O. Enjolras, M. Wassef, R. Chapot. Color Atlas of Vascular Tumors and Vascular Malformations. Cambridge University Press, 2007. G. Fleisher, S Ludwig, F. Henretig, R. Ruddy, B. Silverman. Pediatric Emergency Medicine. Lippincott Williams & Wilkins, 2005. L. Donnelly. Pediatric Imaging, The Fundamentals. Saunders Elsevier, 2009. P. Burrows, R. Mitri, A. Alomari, H. Padua, D. Lord, M. Sylvia, S. Fishman, J. Mulliken. Percutaneous sclerotherapy of lymphatic malformations with doxycycline. Lymphatic Research and Biology. December 2008, 6(3-4): 209-216. Children’s Hospital Boston. Vascular Anomalies Center. http://www.childrenshospital.org/clinicalservices/Site1964/mainpageS1964P0.html M. Cohen, S. Maimon, D. Ben-Amitai, E. Bensimon. Vascular, Lymphatic Malformations. Emedicine from WebMD. http://emedicine.medscape.com/article/1296163-overview Konez, Orhan. Hemangiomas and Vascular Anomalies. http://www.birthmarks.us/ Imaging Consult. Elsevier Health, 2009. http://imaging.consult.com/
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