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A Child Who Suddenly Freezes While Trying to Cross Crosswalks—Unique Clinical Manifestation of Paroxysmal Kinesigenic Dyskinesia: A Case Report

(1) Background: We report the case of a patient with a unique clinical presentation of inability to cross crosswalks due to paroxysmal kinesigenic dyskinesia (PKD). (2) Case presentation: A 14-year-old boy presented with the inability to move his right leg at gait initiation from the standing positi...

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Autores principales: Kim, Sae Yoon, Ahn, JiYoung, Kwak, Soyoung, Chang, Min Cheol
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7764854/
https://www.ncbi.nlm.nih.gov/pubmed/33327426
http://dx.doi.org/10.3390/children7120290
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author Kim, Sae Yoon
Ahn, JiYoung
Kwak, Soyoung
Chang, Min Cheol
author_facet Kim, Sae Yoon
Ahn, JiYoung
Kwak, Soyoung
Chang, Min Cheol
author_sort Kim, Sae Yoon
collection PubMed
description (1) Background: We report the case of a patient with a unique clinical presentation of inability to cross crosswalks due to paroxysmal kinesigenic dyskinesia (PKD). (2) Case presentation: A 14-year-old boy presented with the inability to move his right leg at gait initiation from the standing position. This episode lasted for approximately 20–30 s and manifested 1–3 times a day. The difficulty in gait initiation usually occurred when the patient tried to cross crosswalks when the traffic light turned from red to blue. His right arm stiffened occasionally while trying to write with a pencil and eat food with a spoon or chopsticks. Other neurological manifestations and pain were absent during these episodes. No neurological symptoms were observed between the attacks. Brain magnetic resonance imaging did not reveal any abnormalities. A next-generation sequencing study revealed a pathological variant in the proline-rich transmembrane protein 2 (PRRT2) gene. The patient was diagnosed with PKD. His symptoms disappeared completely after treatment with carbamazepine (100 mg/day). (3) Conclusions: The symptoms of PKD can be successfully controlled using antiepileptic medications. Therefore, clinicians should be aware of the clinical manifestations of PKD to provide appropriate treatment.
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spelling pubmed-77648542020-12-27 A Child Who Suddenly Freezes While Trying to Cross Crosswalks—Unique Clinical Manifestation of Paroxysmal Kinesigenic Dyskinesia: A Case Report Kim, Sae Yoon Ahn, JiYoung Kwak, Soyoung Chang, Min Cheol Children (Basel) Case Report (1) Background: We report the case of a patient with a unique clinical presentation of inability to cross crosswalks due to paroxysmal kinesigenic dyskinesia (PKD). (2) Case presentation: A 14-year-old boy presented with the inability to move his right leg at gait initiation from the standing position. This episode lasted for approximately 20–30 s and manifested 1–3 times a day. The difficulty in gait initiation usually occurred when the patient tried to cross crosswalks when the traffic light turned from red to blue. His right arm stiffened occasionally while trying to write with a pencil and eat food with a spoon or chopsticks. Other neurological manifestations and pain were absent during these episodes. No neurological symptoms were observed between the attacks. Brain magnetic resonance imaging did not reveal any abnormalities. A next-generation sequencing study revealed a pathological variant in the proline-rich transmembrane protein 2 (PRRT2) gene. The patient was diagnosed with PKD. His symptoms disappeared completely after treatment with carbamazepine (100 mg/day). (3) Conclusions: The symptoms of PKD can be successfully controlled using antiepileptic medications. Therefore, clinicians should be aware of the clinical manifestations of PKD to provide appropriate treatment. MDPI 2020-12-14 /pmc/articles/PMC7764854/ /pubmed/33327426 http://dx.doi.org/10.3390/children7120290 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Kim, Sae Yoon
Ahn, JiYoung
Kwak, Soyoung
Chang, Min Cheol
A Child Who Suddenly Freezes While Trying to Cross Crosswalks—Unique Clinical Manifestation of Paroxysmal Kinesigenic Dyskinesia: A Case Report
title A Child Who Suddenly Freezes While Trying to Cross Crosswalks—Unique Clinical Manifestation of Paroxysmal Kinesigenic Dyskinesia: A Case Report
title_full A Child Who Suddenly Freezes While Trying to Cross Crosswalks—Unique Clinical Manifestation of Paroxysmal Kinesigenic Dyskinesia: A Case Report
title_fullStr A Child Who Suddenly Freezes While Trying to Cross Crosswalks—Unique Clinical Manifestation of Paroxysmal Kinesigenic Dyskinesia: A Case Report
title_full_unstemmed A Child Who Suddenly Freezes While Trying to Cross Crosswalks—Unique Clinical Manifestation of Paroxysmal Kinesigenic Dyskinesia: A Case Report
title_short A Child Who Suddenly Freezes While Trying to Cross Crosswalks—Unique Clinical Manifestation of Paroxysmal Kinesigenic Dyskinesia: A Case Report
title_sort child who suddenly freezes while trying to cross crosswalks—unique clinical manifestation of paroxysmal kinesigenic dyskinesia: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7764854/
https://www.ncbi.nlm.nih.gov/pubmed/33327426
http://dx.doi.org/10.3390/children7120290
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