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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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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. |
format | Online Article Text |
id | pubmed-7764854 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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