Recurrent cryptogenic strokes in a young female as a novel presentation of Parry Romberg syndrome: a case report and review

IntroductionParry Romberg Syndrome (PRS) is a less common genetic condition presenting with progressive hemifacial atrophy involving skin, underlying connective tissue, muscle and facial bone. Neurological manifestations include seizures, headaches, deafness and trigeminal neuralgia refractory to medications, while stroke is a less common presentation.Materials and methodsA 43-year-old right-handed female with previous history of Lower Motor Neuron (LMN) type facial palsy, seizure disorder and linear scleroderma, presented to our clinic with recurrent cryptogenic strokes. She developed progressive hemifacial atrophy on the left side and left eye ectropion and was eventually diagnosed with rare Parry Romberg Syndrome.ResultsPatient underwent extensive work up for stroke to rule out etiologies like hyperlipidemia, diabetes, lupus and vasculitis. Peripheral labs for inflammatory markers and Cerebrospinal fluid (CSF) studies were unremarkable. Brain imaging at different points in time showed progressive atrophy of brain parenchyma, overlying bone, connective tissue and facial muscles on the left side. Central Nervous System (CNS) vessel imaging and diagnostic cerebral angiogram was unremarkable.ConclusionThis novel case underscores the potential CNS involvement in PRS, which is a rare disease entity. Neurological manifestations are not uncommon, including stroke. Further research is needed to understand the mechanisms of stroke in this rare disease process, that could help develop potential therapeutic targets.