No abstract

PHACE syndrome is the association of segmental facial hemangiomas with congenital arterial, brain, cardiac, and ocular anomalies. Structural brain malformations affect 41-52% of PHACE patients and can be associated with focal neurologic deficits, developmental delays, and/or intellectual disability. To better characterize the spectrum of structural brain and other intracranial anomalies in PHACE syndrome, MRI scans of the head/neck were retrospectively reviewed in 55 patients from the PHACE Syndrome International Clinical Registry and Genetic Repository. All registry patients with a diagnosis of definite PHACE syndrome who had MRI scans of satisfactory quality were included. Of 55 patients, 34 (62%) demonstrated ≥1 non-vascular intracranial anomaly; structural brain malformations were present in 19 (35%). There was no difference in the prevalence of brain anomalies between genders. Brain anomalies were more likely in patients with S1 and/or S2 distribution of facial hemangioma. The most common structural brain defects were cerebellar hypoplasia (25%) and fourth ventricle abnormalities (13%). Dandy-Walker complex and malformations of cortical development were present in 9% and 7%, respectively. Extra-axial findings such as pituitary anomalies (18%) and intracranial hemangiomas (18%) were also observed. Six patients (11%) had anomalies of the globes or optic nerve/chiasm detectable on MRI. Brain malformations comprise a diverse group of structural developmental anomalies that are common in patients with PHACE syndrome. Along with brain malformations, numerous abnormalities of the pituitary, meninges, and globes were observed, highlighting the need for careful radiologic assessment of these structures in the neuroimaging workup for PHACE syndrome.

A 4-year-old female presented to the neurofibromatosis clinic with a congenital anomaly of the right forearm, numerous café au lait spots, axillary and inguinal freckling, and several soft, flesh-colored papules and nodules on the back consistent with neurofibromas (Figure, A). A prior magnetic resonance imaging study of the brain revealed optic pathway gliomas, for which she was undergoing chemotherapy. Family history was significant for a diagnosis of neurofibromatosis type 1 (NF1) in the mother and maternal grandmother. Radiographic images of the right arm were diagnostic of pseudoarthrosis of the ulna (Figure, B). The patient met clinical diagnostic criteria for NF1 based on café au lait spots, intertriginous freckling, neurofibromas, optic glioma, and a positive family history. 1,2 In patients who present with congenital long bone pseudoarthrosis, 50%-80% have an underlying diagnosis of NF1. The prevalence of pseudoarthrosis among patients with NF1 is 5%. 3 Pseudoarthrosis occurs when there is nonunion of bone fragments at the site of a long bone fracture forming a false joint. This can occur in NF1 from bone dysplasia causing impaired healing. 4 The most common location for this to occur is the tibia. Pseudoarthrosis of the forearm is rare, usually involving the ulna. 5 Management can be complex and an orthopedic surgeon should be consulted. Consensus guidelines for the treatment of pseudoarthrosis by the Children's Tumor Foundation include bone fixation to appropriately stabilize the bone, debridement of the fibrous pseudoarthrosis tissue between bone segments, optimizing bone repair by creating healthy vascular beds to promote osteogenesis, and preventing recurrence of fracture. 6 Owing to the strong association with NF1, any child presenting with congenital pseudoarthrosis of a long bone should undergo further clinical evaluation for NF1. ■