When Hemiplegic Migraine Defies Expectations: Diagnostic Complexity in a Rare Genetic Disorder.

Familial hemiplegic migraine (FHM) is a rare type of migraine. It is inherited and can cause various neurological symptoms. These symptoms can make diagnosis very difficult. One case involved a patient with hemiparesis, severe headache, altered consciousness, and fever. Initially, doctors thought it might be a stroke or encephalitis. A detailed clinical history was crucial for diagnosis. Genetic tests were performed to identify specific gene mutations. These tests included CACNA1A, ATP1A2, SCN1A, and PRRT2. This case shows how different symptoms can appear in FHM. Misdiagnosis can happen easily in emergency situations. Early recognition is vital for proper treatment. Careful assessment and genetic testing can lead to better management. This approach helps avoid unnecessary treatments. Understanding FHM can improve patient outcomes and reduce confusion in medical settings. Clinical relevance: This research emphasizes the importance of accurate diagnosis and genetic testing for effective management of familial hemiplegic migraine.