The natural history of type 2 Gaucher disease in the 21st century: A retrospective study.

Objective: To gather natural history data to better understand the changing course of type 2 Gaucher disease (GD2) in order to guide future interventional protocols.

Methods: A structured interview was conducted with parents of living or deceased patients with GD2. Retrospective information obtained included disease presentation, progression, medical and surgical history, medications, family history, management, complications, and cause of death, as well as the impact of disease on families.

Asymmetric Lower Extremity Involvement and Facial Palsy: An Atypical Case of Guillain-Barre Syndrome.

Guillain-Barre syndrome (GBS) represents the most common cause of acute flaccid paralysis and is characterized by muscle weakness frequently accompanied by respiratory and bulbar paralysis which oftentimes can be life-threatening. Early recognition and intervention are essential to prevent potential complications and help hasten recovery. Herein, we report a case of a middle-aged female who presented with nonspecific gastrointestinal symptoms that were shortly followed by a unique combination of new-onset facial diplegia and asymmetric lower extremity areflexia.

White vitreous opacities in five patients with Gaucher disease type 3.

Fundal abnormalities, including preretinal and retinal changes, are a rare finding in patients with the autosomal recessive lysosomal storage disorder Gaucher disease, most often described in patients with the chronic neuronopathic form (type 3). We evaluated whether these ophthalmological findings correlated with other manifestations of type 3 Gaucher disease. Reviewing the records of 40 patients with type 3 Gaucher disease, we identified five with white vitreous opacities and reviewed their clinical course in depth.