Pediatric Neurology xxx (2015) 1e2
Contents lists available at ScienceDirect
Pediatric Neurology journal homepage: www.elsevier.com/locate/pnu
Visual Diagnosis
Paroxysmal Kinesigenic Dyskinesia: Seeing is Believing Margie Ream MD, PhD a, *, Bethanie Morgan-Followell MD a, Debabrata Ghosh MD b a b
Nationwide Children’s Hospital, Columbus, Ohio Nationwide Children’s Hospital, Ohio State University Medical Center, Columbus, Ohio
Patient 1 This 12-year-old girl complained of daily episodes of imbalance, finger tingling, and loss of arm control resolving after rest. She was asymptomatic between episodes with a normal electroencephalograph. She had seizures from 4 months until 5 years old, with normal subsequent development. Running provoked dystonic posturing of both hands (Fig 1, Video 1). Her mother had neonatal seizures and similar episodes. Symptoms resolved shortly after starting carbamazepine at 4 mg/kg/d. Patient 2 This 14-year-old boy had complained for several months of “spasms” upon walking that were worsening in frequency and duration, occurring daily for up to 1 minute (Fig 2, Video 2). Symptoms resolved after initiation of carbamazepine at 200 mg twice daily. He developed Drug Reaction with Eosinophilia and Systemic Symptoms and was changed to phenytoin. Thereafter he had adequate but incomplete symptom control.
Discussion
Paroxysmal kinesigenic dyskinesia is an autosomal dominant disorder characterized by episodic dystonia with or without chorea or sensory symptoms. Attacks are elicited by sudden movements; they can involve one or multiple limbs as well as axial or facial muscles. Episodes start in childhood or adolescence, usually last less than a minute, and can occur many times per day.1 Attacks are not associated with loss of consciousness or pain and are alleviated in approximately 80% of patients with
The authors have no conflicts of interest in relation to this manuscript. This article has neither been submitted for publication in any other journal, nor presented in any conference before, and is being solely submitted to Pediatric Neurology. No funding was required for this project. Author contributions: M.R. was the managing neurology attending and wrote the initial manuscript and revision; B.M.F. assisted in writing the initial manuscript and later revision; D.G. helped in conceptualizing and participated in revision of the manuscript.
* Communication should be addressed to: Dr. Ream; Division of Neurology; Department of Pediatrics; Nationwide Children’s Hospital; The Ohio State University; 700 Children’s Dr; Columbus, OH 43205, United States. E-mail address: [email protected] 0887-8994/$ e see front matter Ó 2015 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.pediatrneurol.2015.03.003
FIGURE 1. Hand dystonia beginning after brief exercise and remitting with a few seconds of rest (patient 1). This child’s video can be found at http://dx.doi. org/10.1016/j.pediatrneurol.2015.03.003.
carbamazepine or phenytoin.2 Up to 25% of cases are sporadic. Most individuals with paroxysmal kinesigenic dyskinesia are due to mutations in the proline-rich transmembrane protein 2 (PRRT2) gene that participates in synaptic vesicle membrane docking.3 Mutations in PRRT2 are also associated with benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome, hemiplegic migraine, migraine with aura, febrile seizures, and childhood absence epilepsy.4
2
M. Ream et al. / Pediatric Neurology xxx (2015) 1e2
Paroxysmal kinesigenic dyskinesia must be differentiated from exercise-induced dyskinesia that usually requires prolonged heavy exercise to provoke attacks, which are rare (less than one per month) and prolonged (minutes to hours). Exercise-induced dyskinesia is often caused by a mutation in a glucose transporter and may require ketogenic diet for treatment.2 Conditions provoking an attack should be reproduced in a clinic, if possible, when events are not life-threatening. Observation of our patients’ episodes was necessary for diagnosis, proper treatment, and avoidance of unnecessary testing such as long-term electroencephalograph monitoring, which is often used in patients with paroxysmal abnormal movements. References 1. Bruno MK, Hallett M, Gwinn-Hardy K, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004;63:2280-2287. 2. Bhatia KP. Paroxysmal dyskinesias. Mov Disord. 2011;26:1157-1165. 3. Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet. 2011;43:1252-1255. 4. Gardiner AR, Bhatia KP, Stamelou M, et al. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology. 2012;79:2115-2121.
FIGURE 2. Arm and leg dystonia upon walking (patient 2). This patient’s video can be found at http://dx.doi.org/10.1016/j.pediatrneurol.2015.03.003
Contents lists available at ScienceDirect
Pediatric Neurology journal homepage: www.elsevier.com/locate/pnu
Visual Diagnosis
Paroxysmal Kinesigenic Dyskinesia: Seeing is Believing Margie Ream MD, PhD a, *, Bethanie Morgan-Followell MD a, Debabrata Ghosh MD b a b
Nationwide Children’s Hospital, Columbus, Ohio Nationwide Children’s Hospital, Ohio State University Medical Center, Columbus, Ohio
Patient 1 This 12-year-old girl complained of daily episodes of imbalance, finger tingling, and loss of arm control resolving after rest. She was asymptomatic between episodes with a normal electroencephalograph. She had seizures from 4 months until 5 years old, with normal subsequent development. Running provoked dystonic posturing of both hands (Fig 1, Video 1). Her mother had neonatal seizures and similar episodes. Symptoms resolved shortly after starting carbamazepine at 4 mg/kg/d. Patient 2 This 14-year-old boy had complained for several months of “spasms” upon walking that were worsening in frequency and duration, occurring daily for up to 1 minute (Fig 2, Video 2). Symptoms resolved after initiation of carbamazepine at 200 mg twice daily. He developed Drug Reaction with Eosinophilia and Systemic Symptoms and was changed to phenytoin. Thereafter he had adequate but incomplete symptom control.
Discussion
Paroxysmal kinesigenic dyskinesia is an autosomal dominant disorder characterized by episodic dystonia with or without chorea or sensory symptoms. Attacks are elicited by sudden movements; they can involve one or multiple limbs as well as axial or facial muscles. Episodes start in childhood or adolescence, usually last less than a minute, and can occur many times per day.1 Attacks are not associated with loss of consciousness or pain and are alleviated in approximately 80% of patients with
The authors have no conflicts of interest in relation to this manuscript. This article has neither been submitted for publication in any other journal, nor presented in any conference before, and is being solely submitted to Pediatric Neurology. No funding was required for this project. Author contributions: M.R. was the managing neurology attending and wrote the initial manuscript and revision; B.M.F. assisted in writing the initial manuscript and later revision; D.G. helped in conceptualizing and participated in revision of the manuscript.
* Communication should be addressed to: Dr. Ream; Division of Neurology; Department of Pediatrics; Nationwide Children’s Hospital; The Ohio State University; 700 Children’s Dr; Columbus, OH 43205, United States. E-mail address: [email protected] 0887-8994/$ e see front matter Ó 2015 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.pediatrneurol.2015.03.003
FIGURE 1. Hand dystonia beginning after brief exercise and remitting with a few seconds of rest (patient 1). This child’s video can be found at http://dx.doi. org/10.1016/j.pediatrneurol.2015.03.003.
carbamazepine or phenytoin.2 Up to 25% of cases are sporadic. Most individuals with paroxysmal kinesigenic dyskinesia are due to mutations in the proline-rich transmembrane protein 2 (PRRT2) gene that participates in synaptic vesicle membrane docking.3 Mutations in PRRT2 are also associated with benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome, hemiplegic migraine, migraine with aura, febrile seizures, and childhood absence epilepsy.4
2
M. Ream et al. / Pediatric Neurology xxx (2015) 1e2
Paroxysmal kinesigenic dyskinesia must be differentiated from exercise-induced dyskinesia that usually requires prolonged heavy exercise to provoke attacks, which are rare (less than one per month) and prolonged (minutes to hours). Exercise-induced dyskinesia is often caused by a mutation in a glucose transporter and may require ketogenic diet for treatment.2 Conditions provoking an attack should be reproduced in a clinic, if possible, when events are not life-threatening. Observation of our patients’ episodes was necessary for diagnosis, proper treatment, and avoidance of unnecessary testing such as long-term electroencephalograph monitoring, which is often used in patients with paroxysmal abnormal movements. References 1. Bruno MK, Hallett M, Gwinn-Hardy K, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004;63:2280-2287. 2. Bhatia KP. Paroxysmal dyskinesias. Mov Disord. 2011;26:1157-1165. 3. Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet. 2011;43:1252-1255. 4. Gardiner AR, Bhatia KP, Stamelou M, et al. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology. 2012;79:2115-2121.
FIGURE 2. Arm and leg dystonia upon walking (patient 2). This patient’s video can be found at http://dx.doi.org/10.1016/j.pediatrneurol.2015.03.003
