Neurology Publish Ahead of PrintDOI: 10.1212/WNL.0000000000010800

Steggerda S.J. 1

PHACE syndrome in a preterm infant

Sylke J. Steggerda, M.D., Ph.D.1, Ratna N.G.B. Tan, M.D.

1, Peter C.J. de Laat, M.D., Ph.D.

2

1Department of Paediatrics, Division of Neonatology, Leiden University Medical Centre, Leiden, the

Netherlands

2Department of Paediatrics, Vascular Anomaly Center, Erasmus Medical Centre, Rotterdam, the

Netherlands

Corresponding author: Sylke Steggerda, Email: s.j.steggerda@lumc.nl

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Published Ahead of Print on September 10, 2020 as 10.1212/WNL.0000000000010800

Steggerda S.J. 2

Wordcount: 100; Legends 47

Figures: 2

References: 1

Study funding: No targeted funding reported.

Disclosure: The authors report no disclosures relevant to the manuscript.

In a preterm infant (28 weeks) postnatal cranial ultrasound showed unilateral cerebellar hypoplasia.

Day 5 a facial erythematous lesion developed, progressing to a segmental haemangioma during the

next two weeks (Figure 1 A,B). PHACE syndrome was suspected. MRI confirmed cerebellar

hypoplasia and intracranial haemangioma (Figure 2). MRA and echocardiogram were normal.

Because of obstruction of the visual axis low dose atenolol was started (0.5-1.0mg/kg/day), and

continued for two years.

Regression of the haemangioma started within the first week of treatment (Figure 1 C,D). MRI at 1.5

years showed complete resolution of intracranial haemangioma. Neurodevelopment and

ophthalmologic outcome at two years were normal. He developed bilateral conductive hearing loss.

Reference:

Garzon MC, Epstein LG, Heyer GL, et al. PHACE Syndrome: Consensus-Derived Diagnosis and Care

Recommendations. J Pediatr 2017; 178: 24-33. https://doi.org/10.1016/j.jpeds.2016.07.054

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Steggerda S.J. 3

Legends:

Figure 1; Title: Evolution of facial haemangioma in a preterm infant with PHACE syndrome

(A) Day 5, erythematous lesion in left frontotemporal segment; (B) at two weeks; (C,D) 6 months and

two years

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Steggerda S.J. 4

Figure 2; Title: Ultrasound and MRI of the brain in a preterm infant with PHACE syndrome

Postnatal ultrasound (A) and MRI at 31 weeks (B,C) showing unilateral cerebellar hypoplasia (blue

arrows), and ipsilateral periorbital and cerebellopontine angle haemangioma (white arrows)

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DOI 10.1212/WNL.0000000000010800 published online September 10, 2020Neurology 

Sylke J. Steggerda, Ratna N.G.B. Tan and Peter C.J. de LaatPHACE syndrome in a preterm infant

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