Objectives: In this case, a five year-old girl without a similar history in the family, having hypokalemic periodic paralysis attacks without an obvious trigger factor is presented.
Case: 5-year-old girl was brought to our clinic with repeated complaints of weakness. She had the history of polymyositis diagnosis and the use of deltacortril and received intensive care treatment in another clinic with a similar complaint about a year ago. There was no significant family medical history. Physical examination was normal. Pathology was not observed in the tests in previous clinics except hypokalemia at 1.6 meq/L (3.5-5 meq/L) level. Cranial and spinal MR in previous clinics was normal. Hypokalemic periodic paralysis (HypoPP) was considered. CACNA15 gene was sent for the diagnosis of the patient. Spironolactone and oral potassium therapy was started. The patient was discharged with recommending proposing outpatient follow-up. At outpatient follow-up, CACNA15 gene was found to be positive. Genetic counseling was offered to the family.
Results: It is important to keep in mind hypopotassemic periodic paralysis disease, although rare, in patients applying with weakness and malaise, and possible fatal cases can be prevented by giving genetic counseling to the family and early diagnosing the undiagnosed patients after the diagnosis is genetically verified. This study has been presented for the consideration of the rare HypoPP in patients presenting with sudden muscle weakness.
Nesrin C, Ummu A, Zeynep Selen K, Birce Dilge T and Cahide Y
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