C6 (Clinical Case) A 5-Year-Old with Headbanging and Hemiparesis

Abstract

Abstract Introduction/Background A 5-year-old boy had a medical history of Phelan-McDermid syndrome; and with that associated autism spectrum disorder; severe, medication-resistant headbanging; and type 1 diabetes. He presented to community hospital with acute onset inability to walk, irritability, and vomiting. Case Description On examination he had left arm weakness and truncal ataxia. CT head identified a left cerebellar infarction. He was transferred to the local children’s hospital, and CT angiogram showed left PICA proximal occlusion. Due to diagnostic delay, the infarct was not amenable to endovascular intervention. Initial management was neuroprotective care, and given his history of headbanging and the risk of further trauma, only ASA monotherapy. MR brain visualized a left vertebral artery dissection, the stroke’s likely cause. Other causes were ruled out with normal echocardiogram and thrombophilia work-up, including antiphospholipid panel. Genetic analysis was negative for connective tissue diseases, bleeding or clotting disorders. On day 5 of admission, he acutely developed worsened left arm weakness and inability to bear weight. Repeat brain imaging showed new bilateral medial thalamic infarcts and diffusion restriction within the right putamen. Given this progression, despite the risk of bleeding, heparin was initiated. On day 9, repeat CT head identified a new lacunar infarct. On day 14, repeat MRI confirmed clinical stability, and he was switched from heparin to enoxaparin. After 27 days, he was discharged for home-based rehabilitation. His three-month follow-up MRI was stable, and anticoagulation was discontinued, while he remained on ASA only. Discussion There is no known association between Phelan-McDermid syndrome and cerebrovascular diseases. However, self-injurious behaviour, such as head banging, is not uncommon in the paediatric population, particularly among neurodiverse patients. These behaviours, in and of themselves, can cause significant injury and morbidity. The case shows how severe headbanging may have caused vertebral artery dissection with thromboembolic consequences. As such, for patients who demonstrate self-injurious behaviour, it is important to counsel these patients and families on potential harms, and inform efforts to mitigate risk, where possible. In cases of acute change to neurological status, stroke should remain on the differential diagnosis, and brain imaging should be considered. Time to central imaging affects therapeutic opportunities, as exemplified in this case where, due to delays in obtaining imaging, endovascular therapy was not an option for the patient. Conclusion Many children engage in self-injurious behaviour that can, as in this case, cause devastating consequences. Clinicians should remain wary of change in neurologic status and have low thresholds for central nervous system imaging, especially for patients with non-verbal communication.