PHACE syndrome in a preterm infant

Neurology, vol. 95, pp. 751–752

Abstract

In a preterm infant (28 weeks), postnatal cranial ultrasound showed unilateral cerebellar hypoplasia. On day 5, a facial erythematous lesion developed, progressing to a segmental hemangioma during the next 2 weeks (figure 1, A and B). PHACE syndrome (posterior fossa anomalies, most commonly located in the mid brain or hindbrain, such as the Dandy-Walker complex and focal dysplasia and/or hypoplasia of the cerebellum, hemangioma, arterial lesions, cardiac abnormalities or coarctation of the aorta, eye or endocrine abnormalities)1 was suspected. MRI confirmed cerebellar hypoplasia and intracranial hemangioma (figure 2). Magnetic resonance angiography and echocardiogram were normal. Because of obstruction of the visual axis, low-dose atenolol was started (0.5–1.0 mg/kg/d), and continued for 2 years.

Authors 3

1. Sylke Jeanne Steggerda Aachen

   Leiden University · Erasmus MC · Leiden University Medical Center

   Affiliation as printed

   From the Department of Paediatrics (S.J.S., R.N.G.B.T.), Division of Neonatology, Leiden University Medical Centre; and Department of Paediatrics (P.C.J.d.L.), Vascular Anomaly Center, Erasmus Medical Centre, Rotterdam, the Netherlands

   Department of Paediatrics (P.C.J.d.L.), Vascular Anomaly Center, Erasmus Medical Centre, Rotterdam, the Netherlands

2. Ratna N.G.B. Tan Aachen

   Leiden University · Erasmus MC · Leiden University Medical Center

   Affiliation as printed

   From the Department of Paediatrics (S.J.S., R.N.G.B.T.), Division of Neonatology, Leiden University Medical Centre; and Department of Paediatrics (P.C.J.d.L.), Vascular Anomaly Center, Erasmus Medical Centre, Rotterdam, the Netherlands

3. Peter C. J. de Laat Aachen

   Leiden University · Erasmus MC · Leiden University Medical Center

   Affiliation as printed

   From the Department of Paediatrics (S.J.S., R.N.G.B.T.), Division of Neonatology, Leiden University Medical Centre; and Department of Paediatrics (P.C.J.d.L.), Vascular Anomaly Center, Erasmus Medical Centre, Rotterdam, the Netherlands

   Department of Paediatrics (P.C.J.d.L.), Vascular Anomaly Center, Erasmus Medical Centre, Rotterdam, the Netherlands