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

INTRODUCTION: Parry 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 METHODS: A 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. RESULTS: Patient 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. CONCLUSION: This 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.

Motor Band Sign in Primary Lateral Sclerosis: A Case Report Proposing the Need for an Imaging Biomarker.

Motor neuron disease is a degenerative condition involving both upper motor neurons (UMN) and lower motor neurons (LMN). While amyotrophic lateral sclerosis (ALS) is an overlap of upper and lower motor neuron involvement, primary lateral sclerosis (PLS) is predominantly an upper motor neuron involvement with lower motor involvement seen in the later stages of illness. Diagnostic criteria rely on clinical features and electrodiagnostic tests such as electromyography (EMG). EMG predominantly helps in determining lower motor neuron involvement. No definitive objective measures are currently available to determine upper motor neuron involvement. We describe a patient diagnosed with PLS based on consensus diagnostic criteria. The patient had absent LMN features both clinically and on EMG. Magnetic resonance imaging (MRI) was significant for hypointense signals in the bilateral motor strip area on susceptibility weighted sequence, suggesting a surrogate marker of degeneration involving motor neurons in the brain. Early recognition of this MRI pattern called motor band sign (MBS) can help determine the earlier diagnosis of this neurodegenerative condition, potentially translating to better treatment and outcome measures.

Open-field arena boundary is a primary object of exploration for Drosophila.

Drosophila adults, when placed into a novel open-field arena, initially exhibit an elevated level of activity followed by a reduced stable level of spontaneous activity and spend a majority of time near the arena edge, executing motions along the walls. In order to determine the environmental features that are responsible for the initial high activity and wall-following behavior exhibited during exploration, we examined wild-type and visually impaired mutants in arenas with different vertical surfaces. These experiments support the conclusion that the wall-following behavior of Drosophila is best characterized by a preference for the arena boundary, and not thigmotaxis or centrophobicity. In circular arenas, Drosophila mostly move in trajectories with low turn angles. Since the boundary preference could derive from highly linear trajectories, we further developed a simulation program to model the effects of turn angle on the boundary preference. In an hourglass-shaped arena with convex-angled walls that forced a straight versus wall-following choice, the simulation with constrained turn angles predicted general movement across a central gap, whereas Drosophila tend to follow the wall. Hence, low turn angled movement does not drive the boundary preference. Lastly, visually impaired Drosophila demonstrate a defect in attenuation of the elevated initial activity. Interestingly, the visually impaired w(1118) activity decay defect can be rescued by increasing the contrast of the arena's edge, suggesting that the activity decay relies on visual detection of the boundary. The arena boundary is, therefore, a primary object of exploration for Drosophila.