Description

The surviving female monochorionic, diamniotic twin of an in vitro fertilisation assisted pregnancy complicated by prolonged rupture of membranes, chorioamnionitis and antepartum haemorrhage, was delivered at 24 weeks’ gestation, weighing 706 grams following spontaneous preterm labour. Antenatal steroids were incomplete. She was intubated at birth, with Apgar scores of 7 at 1 minute, 9 at 5 minutes, and 10 at 10 minutes.

Mechanical ventilation was required for 36 days. Two courses of steroids, from day 11 to 21 and 26 to 36 (DART regimen),1 were required to facilitate extubation to continuous positive airway pressure for the following 36 days. A third course of steroids (Cummings’ regimen)2 from day 36 to 72 enabled transition to low flow subnasal oxygen. Hypothyroidism required thyroxine treatment from day 100 of life. Retinopathy of prematurity was treated with intravitreal bevacizumab and laser therapy.

Multiple cutaneous haemangiomas evolved over 15 weeks with marked proliferation following cessation of steroids (figure 1). A scheduled cerebral MRI at term corrected gestational age prompted urgent transfer to a tertiary referral centre for specialist assessment (day 116 of life).

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Figure 1

Haemangiomas visible over the right parieto-occipital and the posterior cervical regions.

Abdominal ultrasound and cerebral, neck and thoracic MRI determined extensive internal disease with multiple haemangiomas shown to be compressing and deviating the brainstem and large multilobulated neck haemangiomas extending into the mediastinum, and encasing and compressing the trachea and oesophagus. (figure 2A–C). Rapid progression in growth of the lesions over the subsequent 2 days resulted in critical airway obstruction and hypotension, requiring intubation and vasopressor support. Treatment targeting regression of the haemangiomas was commenced using pulsed-dose steroids, interferon and propranolol and is detailed in table 1. Large fluctuations in blood pressure complicated this treatment, most likely due to a combination of factors involving medication effects, systemic steal phenomenon and compression of both the superior vena cava and brainstem. Over the subsequent 44 days, visible involution of cutaneous haemangiomas was accompanied by symptomatic recovery and a further MRI confirmed accompanying involution of internal haemangiomas with significant reduction in mass effect (figure 2D).

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Figure 2

Cerebral, neck and thoracic MRI (A) Axial T1 postcontrast MRI of the posterior fossa demonstrating the avidly enhancing haemangioma centred on the right cerebellopontine angle, compressing the brainstem (arrow) and extending into the right middle cranial fossa. (B) Coronal T2 fat-saturated MRI of the head and neck demonstrating the right posterior fossa haemangioma causing brainstem compression and bilateral neck haemangiomas. (C) Coronal T2 fat-saturated MRI of the head and neck demonstrating the extent of the bilateral neck haemangiomas extending inferiorly into the mediastinum (arrow). (D) Follow-up MRI performed at 4 months of age. Axial T2 sequence demonstrating a significant reduction in size of the posterior fossa haemangioma with treatment.

PHACE (Posterior fossa malformations, haemangioma, arterial anomalies, coarctation of the aorta/cardiac defects and eye abnormalities) syndrome (table 2) was confirmed on MRI angiography by the demonstration of variant arterial anatomy with hypoplasia of both the right vertebral artery and right anterior cerebral artery (A1 segment), and tortuosity of the internal carotid arteries.

Extubation via non-invasive ventilation to low-flow oxygen to manage her chronic lung disease was successful on day 158 of life. Duration of propranolol treatment will be determined by follow-up MRI over the next 12–24 months.