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Hypokalemic Periodic Paralysis in a 10-year-old Child: Case Study

https://doi.org/10.15690/vsp.v25i2.3013

Abstract

Background. Hypokalemic periodic paralysis is a rare form of paralysis in children resulting from genetically determined electrolyte disorders. Its diagnosis is complicated due to transient nonspecific symptoms. Case description. The disease onset was at the age of 5 with episodes of muscle weakness and severe fatigue. Later, the number of these episodes has increased. After the surgery child was diagnosed with paralysis of lower limbs (mostly) accompanied by decreased level of potassium in blood serum. Next-generation sequencing, neuromuscular diseases gene panel, has revealed pathogenic variant in the CACNA1S gene (c.3716G>A, p.Arg1239His). The pathological allele was verified via Sanger sequencing in the proband, but not in his parents (de novo mutation). Diagnosis of “Hypokalemic periodic paralysis” was established. The child was transferred from parenteral administration of potassium solutions to oral therapy with KCl (4%) solution. Acetazolamide was added to the treatment regimen, and was subsequently discontinued due to an adverse reaction (persistent metabolic acidosis). Conclusion. Spontaneous paralysis in the patient, accompanied by decrease in serum potassium level, is a reason to suspect hypokalemic periodic paralysis. Administration of potassium medications allows us to prevent any symptoms of disease without reducing patient's quality of life.

About the Authors

Artem A. Ivanov
Pirogov Russian National Research Medical University
Russian Federation

Moscow


Disclosure of interest:

Not declared.



Tatiana V. Kulichenko
Pirogov Russian National Research Medical University
Russian Federation

Moscow


Disclosure of interest:

Not declared.



Julia S. Lashkova
Pirogov Russian National Research Medical University
Russian Federation

Moscow


Disclosure of interest:

Not declared.



Nataliya S. Ershova
Pirogov Russian National Research Medical University
Russian Federation

Moscow


Disclosure of interest:

Not declared.



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Review

For citations:


Ivanov A.A., Kulichenko T.V., Lashkova J.S., Ershova N.S. Hypokalemic Periodic Paralysis in a 10-year-old Child: Case Study. Current Pediatrics. 2026;25(2):115–122. (In Russ.) https://doi.org/10.15690/vsp.v25i2.3013

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