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Alternating Hemiplegia of Childhood: New Diagnostic Options

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Alternating Hemiplegia of Childhood: New Diagnostic Options View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Via Medica Journals n e u r o l o g i a i n e u r o c h i r u r g i a p o l s k a 4 8 ( 2 0 1 4 ) 1 3 0 – 1 3 5 Available online at www.sciencedirect.com ScienceDirect journal homepage: http://www.elsevier.com/locate/pjnns Review article Alternating hemiplegia of childhood: New diagnostic options Aleksandra Gergont *, Marek Kaciński Department of Neurology of Children and Youth, Jagiellonian University, Collegium Medicum, Krakow, Poland a r t i c l e i n f o a b s t r a c t Article history: A syndrome of alternating hemiplegia of childhood (AHC) is a rare disorder first presented in Received 14 August 2012 1971. AHC is characterized by transient episodes of hemiplegia affecting either one or both sides Accepted 13 May 2013 of the body. Age of onset is before 18 months and the common earliest manifestations are Available online 15 February 2014 dystonic or tonic attacks and nystagmus. Hemiplegic episodes last minutes to days and the frequency and duration tend to decrease with time. Motor and intellectual development is fi Keywords: affected, de cits may also develop later. Epileptic seizures occur in some patients. Neuroimaging of the brain usually reveals no abnormalities. The variability of individual clinical presentations Alternating hemiplegia fi Children and evolution of symptoms have made diagnosis dif cult. Therefore the problems of misdiag- ATP1A3 nosis could account for the low prevalence of this syndrome. This paper hopes to present actual data on AHC, especially of the results of genetic research and new diagnostic tools. # 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved. a symptom of motor migraine aura) suggested that AHC 1. Introduction constitutes migraine precursor or variant of hemiplegic migraine (FHM, familial hemiplegic migraine). Majority of Alternating hemiplegia of childhood (AHC, MIM 104290) was presented cases were predominantly sporadic, however famil- presented by Verret and Steel in 1971 [1]. Alternating hemiplegia ial cases with transmission suggesting autosomal dominant of childhood is a rare syndrome with an early manifestation, trait were presented [3,4]. and its diagnosis is based on the clinical symptoms fulfilling Multicenter research on AHC pathomechanism succeeded the criteria. The incidence has been estimated at 1 in 1000,000 with the identification of ATP1A3 mutation. The research was births but the underestimation of the burden of AHC could be conducted in collaboration with European Network for suspected due to the lack of sufficient knowledge about this Research on Alternating Hemiplegia (ENRAH), an organization syndrome or lack of diagnostic laboratory or radiological test including patients and their families as well as clinicians to confirming diagnosis with certainty [2]. Until recently, no help coordinate epidemiological data and to promote research hypothesis explaining AHC pathomechanism has been con- efforts [5,6]. firmed. Although in single cases pathological changes were The translation of the name of the syndrome into Polish detected suggesting vasculitis or mitochondrial enzymatic was not unified. In the publication of the Polish version of the chain disorders, specific marker of the disease was not defined. International Classification of Headache Disorders 'alternating The phenotypic features common with migraine (hemiplegia as plegia of childhood' (naprzemienne porażenie dziecięce) was * Corresponding author at: Katedra Neurologii Dzieci i Młodzieży, UJ CM ul. Wielicka 265, 30-663 Kraków, Poland. Tel.: +48 12 6581870; fax: +48 12 6581870. E-mail address: [email protected] (A. Gergont). http://dx.doi.org/10.1016/j.pjnns.2013.05.003 0028-3843/# 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved. n e u r o l o g i a i n e u r o c h i r u r g i a p o l s k a 4 8 ( 2 0 1 4 ) 1 3 0 – 1 3 5 131 – presented in a section of childhood periodic syndromes that Table 1 Diagnostic criteria for alternating hemiplegia of are commonly precursors of migraine [7]. A case of a patient childhood. hospitalized at the Department of Developmental Neurology 1. Onset before age of 18 months ń AM in Gda sk was presented in 1976 as 'alternating hemiple- 2. Repeated episodes of hemiplegia involving alternating body gia in a child' [8]. The next case of a girl with AHC hospitalized sides 3. Episodes of bilateral hemiplegia or quadriplegia, starting at the Department of Neurology of Polish Mother's Memorial bilaterally as separate attack or as generalization of a Research Institute Hospital (Centrum Zdrowia Matki Polki) in hemiplegic episode Łodź was described in 1995 as 'alternating hemiplegia' [9]. The 4. Disappearance of all symptoms upon sleeping term 'alternating hemiplegia of childhood' was applied in the 5. Other paroxysmal disturbances, including dystonic spells, fi paper related to the signi cance of neuronal channelopathies abnormal oculomotor symptoms or autonomic phenomena in the pathogenesis of migraine [10]. occurring during hemiplegic spells or independently 6. Evidence of developmental delay or neurologic abnormalities, including choreoatetosis, dystonia, or ataxia 2. The classical course of AHC In majority of children diagnosed with AHC, regardless of early symptoms: abnormal ocular symptoms and dystonia. In climatic region, the key symptom, namely hemiplegia occurred relation to hemiplegia, which occurs in 100% of examined before 18 months of life. A plegia usually occurs during following patients, only the mean age of onset was presented. Table 3 attacks at alternating body sides. Sometimes, however, it begins shows data for most common non-episodic symptoms. The unilaterally but later evolves to bilateral hemiplegia or transfers table contains the year of paper's publication, the duration of to the opposite side of the body during one attack. Bilateral the research, and also the age of children at the time of plegia since the beginning of attacks was also observed during diagnosis [11,16,17]. There is a tendency for earlier AHC some episodes. Deterioration of consciousness was not associ- diagnosis in younger patients. The data presented in papers ated with episodes of hemiplegia. Involuntary movements, listed in references is more precise than included in tables. The including facial dyskinesia, dystonia and athetosis were paper of Sweney et al. presents results of observations, that associated with hemiplegia or occurred independently. In episodic abnormal ocular movements were documented in AHC cases manifesting during first days of life, ocular 93% of patients, within 83% during first 3 months of life, but in movement disorders or involuntary movements are the first 32% in first 2 days of life. Such information may have a to occur [11]. Later on, cerebellar ataxia appeared also with the significant impact on the early AHC diagnosis [4]. disease's progression. Headaches were reported by 58% of children with AHC, although migraine with aura was diagnosed 3. Stages of the course of AHC in 16% [12]. Epileptic seizures were not in a close time relation to hemiplegic episodes, but in some cases hemiplegia could be incorrectly diagnosed as Todd palsy. In majority of children, Authors of the research on AHC noticed changes in clinical symptoms resolved during sleep, they appeared however symptoms with the age of children [4,11]. Mikati et al. [15] during prolonged attacks 10–20 min after awakening [13–15]. proposed three phases of symptoms evolution in AHC Diagnostic criteria of AHC are presented in Table 1 [13,14]. patients. These phases do not mean the constant deterioration The criterion of immediate disappearance of all symptoms of development of patients but rather fluctuations in their while going to sleep was not always included as necessary to condition. Stage I lasts for about one year and manifests itself establish diagnosis of AHC in retrospective research, since during first months of life with episodic abnormal ocular responses in questionnaires did not contain such precise data movements, such as horizontal, vertical or rotatory nystag- [15]. The early clinical signs recognized as most convincing for mus, which can be also unilateral, gaze deviation to one side or diagnosis of AHC in infants included episodic nystagmus, upwards, paralysis of conjugate gaze, loss of convergence or especially monocular [11]. Table 2 provides data related to convergent strabismus. Abnormal ocular movements were the most important episodic AHC symptoms, especially most first to occur in 83% of patients, as a presenting symptom [4]. Table 2 – Review of age of symptoms onset (months) and prevalence of episodic symptoms in patients with alternating hemiplegia of childhood. Author Group Age of hemiplegia Oculomotor abnormalities Dystonia (%) Epilepsy (%) onset (months); mean Age (months); mean % Panagiotakaki et al. [12] 157 7 ND 91 88 53 Sweney et al. [4] 103 6.6 2.4 93 83 41 Mikati et al. [15] 44 <18 (84%) ND 100 95 18 >18 (16%) Silver et al. [16] 10 9 ND ND ND 50 Saito et al. [17] 9 8 3.2 100 89 77.7 Nevsimalová et al. [11] 8 16.3 4.1 ND ND 87.5 ND – no data available. 132 n e u r o l o g i a i n e u r o c h i r u r g i a p o l s k a 4 8 ( 2 0 1 4 ) 1 3 0 – 1 3 5 Table 3 – Review of age of children at the time of diagnosis (months) and prevalence of symptoms significant for diagnosis of alternating hemiplegia of childhood. Author, year of publication Research duration Age at time of diagnosis Developmental Ataxia (%) (months); mean delay (%) Panagiotakaki et al. (2010) [12] 2005–2007 20 92 ND Sweney et al.
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