Posterior fossa malformations-haemangiomas-arterial anomalies-cardiac defects-
eye abnormalities-
sternal cleft and supraumbilical raphe syndrome (also known as PHACES syndrome) is a rare
neurocutaneous disorder. Children presenting with these manifestations need careful ophthalmological, cardiac and neurological assessment. They may have one or more of these extracutaneous manifestations, the most common being cerebral and cardiovascular anomalies. There is controversy about treating these children with
propranolol especially if they have cerebrovascular involvement with narrow, dysplastic or absent blood vessels. The concern with
propranolol is that
hypotension may lead to reduced cerebral blood flow and neurological consequences. Prior to
propranolol the systemic treatment for haemangiomas was
prednisolone and then the concern was the opposite, namely
hypertension. Our proposal was whether a combination of these two drugs would provide a safer and faster recovery. We report three retrospective cases of PHACES syndrome, each of whom received treatment with a combination of
propranolol and
prednisolone: two children were started on
prednisolone and
propranolol was added because the haemangiomas failed to respond adequately; the third child was started on
propranolol and developed peripheral ischaemia and ulceration necessitating a reduction in dose addition of a low dose of
prednisolone. All three patients, who failed on the one treatment, responded well to combination
therapy without any significant complications. These outcomes suggest that for some patients with PHACES syndrome the use of combination treatment with
propranolol and
prednisolone could be advantageous, potentially allowing for the introduction of low doses of each with an enhanced combined effect. The doses can be increased gradually depending on the magnetic resonance imaging findings.