Sturge-Weber Syndrome (SWS) (encephelotrigeminal angiomatosis) is a congenital, non-familial disorder caused by the GNAQ gene mutation. It is characterized by a congenital facial birthmark and neurological abnormalities. The facial capillary vascular malformation is also known as “port-wine stain” or “nevus flammeus” and usually is seen in the territory of the trigeminal nerve.
Other symptoms associated with Sturge-Weber can include eye, endocrine and organ irregularities, as well as developmental disabilities. Each case of Sturge-Weber Syndrome is unique and exhibits the characterizing findings to varying degrees. There is no specific treatment for Sturge-Weber syndrome. The primary aim is to minimize seizures activity with anticonvulsive medications.
Mnemonic: “ASHERMAN” A: Acquired Anomaly S: Secondary to Surgery H:
Mnemonic: “4 T’s” • Thyroid enlargement (Retrosternal extension) • Thymoma
Mnemonic: “CAMP” C: Chronic Cirrhosis A: Acute fulminant liver failure
Mnemonic: “ALZHEIMER’S” A: Anterograde amnesia is usually first sign L:
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disorder characterized
Mnemonic: “CLUBBING” C: Cyanotic heart disease L: Lung disease (hypoxia, lung