B-38: Neurocognitive Phenotype of PHACE Syndrome: A Case Study

Abstract

Objective: Our objective is to add to the general literature surrounding PHACE syndrome, a rare neurocutaneous disorder characterized by Posterior fossa malformations, Hemangioma, Arterial abnormalities, Cardiac deficits, and Eye abnormalities, occurring in 2-3% of patients with infantile hemangioma. This case study will examine the neuropsychological results from a single patient diagnosed with PHACE syndrome. Method/Data Selection: This case describes a young elementary school-aged boy who was referred for neuropsychological assessment to evaluate his current cognitive, behavioral, and developmental functioning, within the context of suspected autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) amid comorbid PHACE syndrome. History was significant for behavioral challenges at home and school contexts, emotional dysregulation, aggression, and difficulties with attention, focus, and impulsivity. Neuropsychological data, parent/teacher report measures, de-identified history, and behavioral observations will be organized and presented. Evaluation procedures included administration, scoring, and interpretation of comprehensive neuropsychological measures, and school observation. Results/Data Synthesis: Neuropsychological assessment results supported the diagnoses of ASD and ADHD, corroborated by parent/teacher reports. Deficits were seen in attention, executive functioning, impulse control, and behavioral regulation. Notable weaknesses were also observed in social pragmatic communication, social reciprocity, and unstructured interactions. Behavioral observations further indicated cognitive rigidity, limited imaginative play, inconsistent eye contact, and a significant need for redirection and re-engagement. Conclusions: Neuropsychological assessment can be used as a tool to further explore patterns of cognitive functioning and neurodevelopmental trajectories among patients diagnosed with PHACE syndrome, thereby contributing to the limited literature and helping characterize the neurocognitive phenotype associated with this condition.