Facing PHACES - Plastic Surgery Start Feeding with Haberman Bottle Preterm Delivery and a Persistent Right Umbilical Vein on Fetal Ultrasound

CASE PRESENTATION THERAPY & DISCUSSION History of Present Illness Based on the results of the work up, specialists were consulted. JB is a 1 month old female presenting for a well-child exam. JB was born to a 32 year old - Neurosurgery no intervention; repeat MRA in 6 months G2P2 female at 40 weeks, 0 days gestation via spontaneous vaginal delivery. The patient’s - Dermatology start propranolol prenatal course was uncomplicated except for maternal Makena injections due to prior Facing PHACES - Plastic Surgery start feeding with Haberman bottle preterm delivery and a persistent right umbilical vein on fetal ultrasound. Non-invasive - Ophthalmology no ocular abnormalities noted Ann Lopez, DO, MS; Amy Trinh, DO; Diana prenatal testing and echocardiogram were normal. Hricova, DO; Karrie Kiskaddon, MD Non-selective beta-blockers are the treatment of choice for APGAR scores were 8 and 9 (at 1 minute and 5 minutes, respectively), and she weighed 6 Penn Highlands Healthcare, DuBois, PA hemangiomas. The initial dose is 0.5-1.0 mg/kg/day in the first lb. 15 oz. at delivery. week with gradual increase to 2-3 mg/kg/day twice daily. 2,6,7 Use should be considered carefully due to the risk of decreased INTRODUCTION Family History flow and cerebrovascular accidents, especially when there are Patient‘s family history was positive for Hodgkin’s lymphoma in father and paternal uncle CNS arterial anomalies present.8,9 Furthermore, the medicine PHACES is a rare syndrome of multiple congenital but negative for hemangiomas or vascular malformations. 1,2 should be taken with meals to prevent hypoglycemia.1,10 malformations associated with hemangiomas. *Image 1. JB at 1 month old exam Posterior fossa anomalies Physical Exam The mechanism of action of beta-blockers in treating Physical exam was significant for large, red, thickened plaques on bilateral forehead hemangiomas is unknown. Current theories propose that non- Hemangiomas extending down below the eyes. On the right, the plaque extended down to the cheek, selective beta-blockers may play a role in downregulating nose, philtrum, upper lip, tip of tongue, and right upper palate. The remainder of the Arterial anomalies angiogenic factors, apoptosis of capillary cells, and local patient’s exam was unremarkable. vasoconstriction. 1,8,11 Cardiac anomalies Eye anomalies After 3 months of propranolol, there was improvement in the patient’s hemangioma (Image 2). Sternal defects WORK UP - JB was admitted to a pediatric hospital for further testing and consultation. TAKE HOME POINTS - EKG, echocardiogram, MRI & MRA of the head and neck were ordered 1 The hemangiomas appear in the first few weeks after - MRA was significant for absent left carotid artery, persistent trigeminal - 1/3 of infants with large hemangiomas will have PHACES. birth, grow rapidly for a few months, stabilize, and then artery, and tortuosity of right basilar artery and right internal carotid - Pathogenesis of PHACES is unknown. 11 1 finally involute. The time course varies from patient to artery - Associated congenital malformations include: posterior 2 patient. *Image 2. JB at 4 months old exam after - No intracranial aneurysms were noted but could not be excluded due to fossa abnormalities, hemangiomas, arterial anomalies, 3 months of propranolol therapy the tortuous nature of the vessels cardiac anomalies, eye anomalies, and sternal defects. The location of the hemangioma correlates with the - There is a correlation between the hemangioma location associated defects; e.g. hemangiomas of the upper face DIAGNOSTIC CRITERIA and the associated defect. 1,8 Diagnostic criteria for PHACES include the presence of a hemangioma greater than 5 cm involving more than one segment of are associated with ocular anomalies, and mandibular - Treatment should be geared toward alleviating the face/scalp/neck associated with 1 major or 2 minor criteria; having 2 major criteria alone can also make the diagnosis.1,9,11 hemangiomas are associated with sternal and complications of organs or systems that underlie the 1,2,3 cardiovascular defects. While the hemangioma may hemangioma. 3,9 eventually heal, the congenital defects are lasting. Arterial Anomalies Brain Anomalies Cardiovascular Anomalies Ocular Anomalies Ventral/Midline Anomalies REFERENCES 1. Rotter A, Samorano L, Rivitti-Machado M, Oliveira Z, and Bernardo Gontijo B. PHACE syndrome: clinical manifestations, diagnostic criteria, and management. An Bras Dermatol. 2018 May-Jun; 93(3): 405–411. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001075/ Due to the varying presentation, there is no definitive 2. Siegel, DH. PHACE Syndrome. In T.W. Post, M. Levy & R. Corona (Eds). UptoDate. Available from: https://www.uptodate.com/contents/phace- treatment. Therapy should consist of a multidisciplinary Major Criteria: Major Criteria: Major Criteria: syndrome?search=PHACE&source=search_result&selectedTitle=1~11&usage_type=default&display_rank=1 September 4, 2019. Last Aortic arch anomaly accessed November 11, 2019. team approach with the goal of mitigating complications in Abnormal cerebral vessels Major Criteria: Hyperplastic vitreous Major Criteria: 3. Metry, DW. (2020) Infantile hemangiomas: Epidemiology, pathogenesis, clinical features, and complications. In T.W. Post, M. Levy & R. 4,5 Coarctation of aorta Corona (Eds). UptoDate. Available from: https://www.uptodate.com/contents/infantile-hemangiomas-epidemiology-pathogenesis-clinical- areas marked by hemangiomas. As such, prognosis and Arterial stenosis Posterior fossa anomaly retinal vascular anomalies Sternal defects (pit/cleft) features-and-complications?search=PHACE&source=search_result&selectedTitle=2~11&usage_type=default&display_rank=2 February 2, Aneurysm 2020. Last accessed February 5, 2020. Persistent carotid Dandy-Walker complex Optic nerve anomalies Supraumbilical raphe 4.Siegel DH, Tefft KA, Kelly T, et al. Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation quality of life is dependent on the severity of the Aberrant origin of subclavian of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature. Stroke 2012; 43:1672. anastomoses Peripapillary staphyloma 5. Kilcline C, Frieden IJ. Infantile hemangiomas: how common are they? A systematic review of the medical literature. Pediatr congenital anomalies. artery Dermatol. 2008;25:168–173. 6. Metry DW, Haggstrom AN, Drolet BA, Baselga E, Chamlin S, Garzon M, et al. A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet A. 2006;140:975–986. Minor Criteria: Minor Criteria: 7. Chiller KG, Passaro D, Frieden IJ. Hemangiomas of infancy: clinical characteristics, morphologic subtypes, and their relationship to race, Minor Criteria: Minor Criteria: Minor Criteria: ethnicity, and sex. Arch Dermatol. 2002;138:1567–1576. Extra-axial lesions Microphthalmia, Cataracts 8. Haggstrom AN, Lammer EJ, Schneider RA, Marcucio R, Frieden IJ. Patterns of infantile hemangiomas: new clues to hemangioma Persistent embryonic Ventricular septal defect Hypopituitarism pathogenesis and embryonic facial development. Pediatrics. 2006;117:698–703. Intracranial hemangioma Sclerocornea, Coloboma 9. Garzon MC, Epstein LG, Heyer GL, et al. PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations. J Pediatr 2016; arteries Right or double aortic arch Cortical/Midline brain Congenital 3rd nerve palsy Midline sternal 178:24. Cerebral artery aneurysm Systemic venous anomalies papule/hamartoma 10. Heyer GL, Dowling MM, Licht DJ, et al. The cerebral vasculopathy of PHACES syndrome. Stroke 2008; 39:308. malformations Horner syndrome 11. Hess CP, Fullerton HJ, Metry DW, Drolet BA, Siegel DH, Auguste KI, et al. Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. AJNR Am J Neuroradiol. 2010;31:1980–1986.