PHACE syndrome

Twenty two-days-old female, second child of a non-consanguineous marriage born at 38 week, 3500 g weight, appropriate for Gestational age with no significant Antenatal/intrapartum/ postnatal period, was brought to High-Risk OPD with complaints of gradually increasing rash with excoriations on the left side of the face, including upper lip, nostril, temple, and neck [Figure 1a] noticed after a few days of birth.

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Figure 1:

(a) Haemangioma, (b) fundus showing enlarged disc with vasculature, (c) like morning glory.

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For a complete PHACE survey, -(P)osterior fossa abnormality; (H)emangioma of the face, neck and scalp; anatomical anomalies of cerebral or cervical (A)rteries; (C)ardiac anomalies/ (C)oarctation of aorta; (E)ye abnormalities. If (S)ternal anomalies are present then it is termed as “PHACES” syndrome.^[1] MRA brain was done which revealed left midbrain hypoplasia, prominent and tortuous basilar artery, small caliber fetal origin of a right posterior cerebral artery, prominent left supraclinoid internal carotid artery, and proximal, middle cerebral artery. Fundus examination was done which is as shown in [Figure 1b]. The lesion has got its name from the flower morning glory in [Figure 1c]. Echocardiogram done was normal.

Presently, baby is on regular follow-up on propranolol showing normal growth parameters and normal INFANIB at 9 months.