Headaches in Loyes-Dietz Syndrome

Loeys-Dietz syndrome is a rare connective tissue disorder characterized by cardiovascular, craniofacial, skeletal, and neurocognitive abnormalities. Recurrent headaches may constitute the neurological presentation of Loyes-Dietz syndrome in the absence of an intracranial aneurysm, subarachnoid hemorrhage, or dissection. The etiology of headaches occurring in Loeys-Dietz syndrome can be diverse but underrecognized and underreported. We described 3 children with Loeys-Dietz syndrome and significant headaches who did not develop neurovascular aneurysms or dissections at presentation and during the short follow-up period. One patient had a confirmed Loeys-Dietz syndrome diagnosis previously and presented with an acute headache due to spontaneous intracranial hypotension and other 2 children had intermittent headaches due to migraine and Chiari I malformation, respectively, and subsequent diagnosis of Loeys-Dietz syndrome was made due to characteristic phenotypic and neuroradiologic abnormalities. Migraine, Chiari I malformation, and spontaneous intracranial hypotension are known features of Loeys-Dietz syndrome and these 3 children will require serial angiographic monitoring for development of intra- and extracranial dissections and aneurysms and appropriate interventions to forestall neurologic complications. It is important to raise awareness of headaches in this population so that appropriate counseling can be given to the child and parents at diagnosis. The neurology community must familiarize itself with the phenotype of the disease for earlier recognition and meticulous surveillance for optimum care for these patients.