Group

HOOK

A pleural effusion occurs when excess fluid accumulates in the pleural space—the area between the lungs and the chest wall. While the condition can make breathing difficult, treatment focuses on relieving symptoms, removing excess fluid when appropriate, and addressing the underlying cause.

HISTORY / OVERVIEW

Pleural effusion is not a disease itself but a complication of many medical conditions, including heart, lung, kidney, liver, infectious, and malignant disorders. The choice of treatment depends on the amount of fluid, the severity of symptoms, and the underlying cause.

COMMON CAUSES

Pleural effusions may result from:

HOOK

Although Pompe disease is a rare inherited disorder, advances in diagnosis and treatment have significantly improved patient outcomes. Early recognition and timely intervention are essential to help preserve muscle function, support respiratory health, and improve quality of life.

HISTORY / OVERVIEW

Pompe disease is caused by mutations in the GAA gene, resulting in a deficiency of the enzyme acid alpha-glucosidase (GAA). Without enough of this enzyme, glycogen accumulates in lysosomes, particularly in skeletal, cardiac, and respiratory muscles, leading to progressive muscle weakness and other complications.

Pompe disease is broadly classified into:

• Infantile-onset Pompe disease (IOPD)