Two Cases of Periodic Paralysis Associated With MCM3AP Variants.

OBJECTIVES: Periodic paralysis is a rare genetic condition characterized by episodes of neuromuscular weakness, often provoked by electrolyte abnormalities, physiologic stress, physical exertion, and diet. In addition to mutations in genes coding for skeletal muscle ion channels, in 2019, Gustavasson et al discovered that the MCM3AP gene could be responsible for periodic paralysis. In this study, we present 2 individuals with clinical episodes of periodic paralysis who have variants in the MCM3AP gene. METHODS: Two unrelated probands were independently evaluated with clinical, genetic, and electrodiagnostic testing. RESULTS: Proband 1 is a 46-year-old man who presented with decades of ongoing episodic weakness and fatigue, clinically diagnosed with periodic paralysis and supported by electrodiagnostic studies. Proband 2 is a 34-year-old woman with a history of episodic paralysis since childhood. Genetic testing in both individuals revealed potentially pathogenic variants in the MCM3AP gene. CONCLUSIONS: Periodic paralysis is a condition that significantly affects the lives of those diagnosed. The results illustrate that MCM3AP gene variants can been associated with a clinical and electrodiagnostic presentation of periodic paralysis. Additional future research should focus on clarifying any relationship between these genetic variants and the disease, as well as other possible genetic causes.

Transient Global Amnesia Masquerading as Transient Ischemic Attack.

Transient global amnesia (TGA) is a rare self-limited syndrome characterized primarily by anterograde amnesia. It shares multiple characteristics with a transient ischemic attack and ischemic stroke, which carry a more ominous outlook. There is a debate with respect to what is sufficient for ruling out more serious pathologies. Additionally, there is data that challenge the historical view that TGA is a benign condition requiring no long-term management. Here, we present the case of a 70-year-old female who was admitted to a free-standing emergency room with confusion, memory loss, and hypertensive crisis that was diagnosed as TGA. The patient was evaluated by a neurologist and transferred to the hospital. The patient was discharged after more serious pathologies were excluded after an extensive workup. This scenario showcases how physicians have to balance the risk of serious diseases with the need for further testing. Future research should focus on how to accurately identify or rule out serious diseases leading to a reduction in adverse events and patient costs. It is also not clear if TGA is truly benign or has an association with stroke.