A full-term newborn female was born with a mass over her left lower back. The past medical history showed that she was born to a 22 year old G1P1 female with an uneventful pregnancy including a normal prenatal ultrasound. Delivery was uncomplicated except for the previously unrecognized mass. She had voided and stooled soon after birth. The family history was negative for neurological or genetic conditions. A maternal aunt had one spontaneous abortion early in pregnancy but had 2 other normal children.
The pertinent physical exam showed a well appearing female with normal vital signs and growth parameters in the 25-50%. Ballard examination was consistent with a 39-40 week infant. The left lower back had a skin-covered sac measuring 15 x 7.5 cm that crossed the midline and displaced the gluteal cleft. There was a positive fluid wave. She was not bothered by the mass. She had a normal neurological examination and was moving all her extremities well and had normal strength and tone. She had no other stigmata of genetic syndromes. The differential diagnosis of a meningomyelocoele (unlikely because of normal neurological examination), arteriovenous or lymphatic malformation, teratoma, lipoma or dermoid cyst were considered. Less likely was an abscess. Her laboratory evaluation was normal including a complete blood count with no anemia or thrombocytopenia. The radiologic evaluation of a magnetic resonance imaging scan showed weighted MR images of the lumbar spine show a large soft tissue mass composed of large cysts that was most compatible with a lymphatic malformation.. The patient’s clinical course included consulting pediatric surgery and pediatric neurosurgery. After the radiology results were known, the pediatric surgeons decided to attempt sclerosis of the lesion. This decreased the lesion in size to ~5 x 5 cm lesion that was later resected without difficulty.
Figure 111 – Axial T1 (top), T2 (middle) and T1 with contrast (bottom) weighted MR images of the lumbar spine show a large soft tissue mass in the subcutaneous tissues of the left back that is composed of large cysts (best appreciated on the T2 weighted images) separated by thin septations which enhance mildly after the administration of contrast. The findings were most compatible with a lymphatic malformation.
Vascular malformations including those of the arterial, venous and lymphatic systems are due to an arrest of the normal process of angiogenesis, vasculogenesis and remodeling of the vessels. They are not tumors and need to be differentiated from benign and malignant vascular lesions. They occur in 1.5% of the population with 90% present at birth.
The nomenclature of congenital lymphatic malformations can be confusing. They can be present in any location and may have mixed elements within them (i.e. lymphatic and venous, lymphatic and arterial, etc.) and different structural components such as dilatation or hyperplasia. Thus people will use different wording that can be ambiguous or incorrect. Lymphatic malformations and problems can be acquired also usually secondary to trauma or surgery with problems arising in the adjacent tissues. An example in the adult population is lymphedema after breast surgery and in the pediatric population is a chylothorax after congenital open-heart surgery.
Cystic hygromas or true congenital lymphatic cysts, are lymphatic malformations that have normal development of the lymphatic system but do not establish the normal communication with the venous system. These can occur anywhere in the body but occur often in the head and neck, many times on the left side. Some cystic hygromas are associated with chromosomal abnormalities particularly Turner’s syndrome.
Lymphatic malformations may be seen in various syndromes including Down, Gorham-Stout, Hennekam, Klippel-Trenaunay, Noonan, Proteus, and Turner syndromes. Complications include compromise and obstruction of surrounding tissues and structures such as airway or visual compromise, bony changes including overgrowth or various limb discrapencies or dental malocclusions, content leakage with ensuing ascites or effusion, infections, bleeding, and lymphopenia. Radiologic evaluation can include ultrasound, computer tomography, magnetic resonance imagining, or magnetic resonance lymphangiography in some institutions.
Treatment is multi-modal with teams of professionals often involved including surgeons and surgical subspecialties, pediatric subspecialties such as neonatology or gastroenterology, radiology, dental, genetics, physical therapy, nutrition, psychology, and social work. The patient’s specific lymphatic malformation and location will dictate the necessary professional involved. Specific treatment includes supportive care (e.g. compression stocking, custom-made shoes, etc.), sclerotherapy, and surgical including management directly of the lesion and other treatment such as paracentesis, tracheotomy, and reconstructive surgeries. Medical treatment is also available using interferon or octreotide.
Questions for Further Discussion
1. What is in the differential diagnosis of a neck mass?
2. What are physical examination signs in patients with Turner syndrome or Klippel-Trenaunay syndrome?
3. What are indications for a genetics consult in a patient with a suspected vascular malformation?
- Symptom/Presentation: Mass or Swelling
- Age: Newborn
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Blei F. Congenital lymphatic malformations. Ann N Y Acad Sci. 2008;1131:185-94.
Gloviczki P, Duncan A, Kalra M, Oderich G, Ricotta J, Bower T, McKusick M, Bjarnason H, Driscoll D. Vascular malformations: an update. Perspect Vasc Surg Endovasc Ther. 2009 Jun;21(2):133-48.
Liu NF, Lu Q, Yan ZX. Lymphatic malformation is a common component of Klippel-Trenaunay syndrome. J Vasc Surg. 2010 Dec;52(6):1557-63.
Liu NF, Yan ZX, Wu XF. Classification of lymphatic-system malformations in primary lymphoedema based on MR lymphangiography. Eur J Vasc Endovasc Surg. 2012 Sep;44(3):345-9.
ACGME Competencies Highlighted by Case
1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
2. Essential and accurate information about the patients’ is gathered.
3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
4. Patient management plans are developed and carried out.
7. All medical and invasive procedures considered essential for the area of practice are competently performed.
8. Health care services aimed at preventing health problems or maintaining health are provided.
9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.
10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.
23. Differing types of medical practice and delivery systems including methods of controlling health care costs and allocating resources are known.
24. Cost-effective health care and resource allocation that does not compromise quality of care is practiced.
26. Partnering with health care managers and health care providers to assess, coordinate, and improve health care and how these activities can affect system performance are known.
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa Children’s Hospital