Downbeat nystagmus: a practical approach based on a clinical case.
Spontaneous downbeat nystagmus (DBN) is the most common form of acquired nystagmus, characterized by a slow upward ocular drift and a corrective downward quick phase. The pathophysiology involves a final common pathway leading to decreased inhibition of the superior vestibular nucleus, often seconda…
Spontaneous resolution of syringomyelia associated with an unruptured intracranial aneurysm: A case report.
We report a rare association of an unruptured basilar artery aneurysm with cervicothoracic syringomyelia that spontaneously regressed without surgical intervention. A 56-year-old female presented with chronic unilateral neuropathic pain as well as a thoracic sensory level involving pain and temperat…
Central Sleep Apnea and Hypoventilation Disorders in Children.
This chapter presents a comprehensive overview of central sleep apnea (CSA) and central hypoventilation disorders in the pediatric population. It places particular emphasis on children with complex medical conditions and genetic syndromes, including congenital central hypoventilation syndrome (CCHS)…
Challenges in the care of rare vascular liver diseases: Insights from patients, health care providers, and patient organizations.
Patients with rare vascular liver diseases (VLDs), including non-cirrhotic portal vein thrombosis and Budd-Chiari syndrome, may develop severe complications from an early age. Yet, little is known about their healthcare experience and unmet needs. This study aimed to identify key challenges in the c…
Quantifying the Burden of Cerebellar and Ophthalmologic Disease in Lambdoid Craniosynostosis.
Lambdoid craniosynostosis may restrict posterior brain development, particularly involving the cerebellum and occipital lobe, with potential implications for vision and balance. However, due to its rarity, evidence linking lambdoid craniosynostosis to adverse ophthalmologic and intracranial outcomes…
Chiari I Malformation as a Human Disease Model of Cerebellar Cognitive-Affective Dysfunction.
Chiari malformation type I (CM1) is traditionally viewed as a structural disorder of the posterior fossa characterized by cerebellar tonsillar herniation. However, growing evidence indicates that CM1 is frequently accompanied by disturbances in cognition, emotion, and behavior that cannot be fully e…
Stroke Following Facial Laser Resurfacing Procedure-A Case Report.
To describe the first reported case of embolic stroke with hemorrhagic conversion following a dermatologic energy-based device procedure, highlighting its mechanism and clinical implications. A detailed case review was conducted, including clinical presentation, imaging, and subsequent diagnostic wo…