INFANTILE HEMANGIOMAS: A UNIQUE PRESENTATION OF PHACE(S) AND LUMBAR SYNDROME
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Abstract
Infantile hemangiomas are mostly benign tumors of the pediatric age group. We present the case of a 14-year-old female who consulted the Medicine out patients’ department (OPD) of Hayatabad Medical Complex with the chief complaint of severe headache and blurry vision for the last 4 months. The patient had large irregular segmental hemangiomas with bony deformities. Past medical and surgical history was insignificant. Magnetic resonance imaging (MRI) showed finding consistent with cerebellar tonsillar ectopia. The presence of such symptoms helped us in diagnosing her as a case of PHACE(S) syndrome [posterior fossa anomalies (P), hemangiomas (H), arterial anomalies (A), cardiac abnormalities and coarctation of aorta (C), eye abnormalities (E), and the sternal defects (S)] with an unusual presentation of LUMBAR syndrome [Lower body hemangioma and other cutaneous defects, Urogenital anomalies, Ulceration, Myelopathy, Bony deformities, Anorectal malformations, Arterial anomalies, and Renal anomalies]. Diagnosis of such rare cases is important. Proper surgical techniques and use of better medical technology are required to make an early diagnosis. Further studies/case reports around the world would assert our findings that PHACE and LUMBAR can present together in a patient as well.
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