Alternating hemiplegia of childhood is a rare neurodevelopmental disorder.Most cases are reported as sporadic disorder due to de novo variants,and few with family members involved.Two boys were hospitalized due to epi...Alternating hemiplegia of childhood is a rare neurodevelopmental disorder.Most cases are reported as sporadic disorder due to de novo variants,and few with family members involved.Two boys were hospitalized due to epileptic seizures occurred initially at age of six to seven months.During the course of the disease,there were repeated episodes of paroxysmal weakness or paralysis affecting one side of the body.Genetic testing showed that both patients carried heterozygous missense mutations in the ATP1A3 gene(OMIM:614820):c.3025(exon 22)A>G(p.K1009E)and c.2443(exon 18)G>A(p.E815K).Flunarizine can significantly improve the paroxysmal motor symptoms of pediatric patients with alternating hemiplegia.展开更多
Background Alternating hemiplegia of childhood(AHC)is a rare pediatric syndrome characterized by recurring episodes of hemiplegia or quadriplegia,and frequently accompanied by dystonic posturing,choreoathetosis moveme...Background Alternating hemiplegia of childhood(AHC)is a rare pediatric syndrome characterized by recurring episodes of hemiplegia or quadriplegia,and frequently accompanied by dystonic posturing,choreoathetosis movements,anomalous ocular motions,and a gradual deterioration in cognitive function.The principal etiology of this disorder is traced back to mutations in the ATP1A3 gene.Case presentation Here,we report a 16-year-old girl with recurrent hemiplegia since her infancy.This patient has experienced paroxysmal limb weakness and aphasia for over 15 years,and has kept seeking medical attention but without receiving effective treatment.A misdiagnosis of hysteria persisted for over 4 years until the patient’s admission to our hospital.Whole-exome sequencing identified a known pathogenic heterozygous c.2270T>C(p.Leu757Pro)mutation in her ATP1A3 gene.Notably,her clinical manifestations,including pathological emotional responses and autonomic dysfunction,differed from the established profile associated with the same ATP1A3 mutation,which typically present with intellectual disability,a rostrocaudal symptom gradient,choreoathetosis,and dysarthria.The patient was finally diagnosed with AHC and treated with flunarizine thus significantly ameliorated hemiplegic episodes.Conclusions This case enhances our understanding of the intricate clinical manifestations of AHC,which require careful differentiation from various diseases such as epilepsy,hysteria,and paroxysmal dyskinesias.In the diagnosis of patients presenting with suspected symptoms,adhering to a systematic approach for localizing and diagnosing neurological disorders is crucial to prevent misdiagnosis and inappropriate treatments.Additionally,when AHC is suspected in a patient,genetic testing should be considered as part of the diagnostic approach.展开更多
Dyke Davidhoff Masson syndrome (DDMS) was first described by Dyke Davidhoff and Masson in 1933 in a series of 9 patients [1]. It’s a very rare condition presenting in childhood ranging from infancy to late adolescenc...Dyke Davidhoff Masson syndrome (DDMS) was first described by Dyke Davidhoff and Masson in 1933 in a series of 9 patients [1]. It’s a very rare condition presenting in childhood ranging from infancy to late adolescence [2]. It is characterised by cerebral hemiatrophy, unilateral ventriculomegaly, calvarial thickening, skull and facial asymmetry, sometimes even contralateral hemiplegia in childhood and seizures [2]. An adult presentation is seen in late adolescence or teen age. However in literature the latest presentation reported so far is at 19 years of age [3]. We report a case of Dyke Davidhoff Masson syndrome who presented first time at the age of 28 years which is probably the oldest presentation of this rare entity reported in the literature.展开更多
基金Research Fund of Anhui Medical University(Grant Number:2019xkj176).
文摘Alternating hemiplegia of childhood is a rare neurodevelopmental disorder.Most cases are reported as sporadic disorder due to de novo variants,and few with family members involved.Two boys were hospitalized due to epileptic seizures occurred initially at age of six to seven months.During the course of the disease,there were repeated episodes of paroxysmal weakness or paralysis affecting one side of the body.Genetic testing showed that both patients carried heterozygous missense mutations in the ATP1A3 gene(OMIM:614820):c.3025(exon 22)A>G(p.K1009E)and c.2443(exon 18)G>A(p.E815K).Flunarizine can significantly improve the paroxysmal motor symptoms of pediatric patients with alternating hemiplegia.
文摘Background Alternating hemiplegia of childhood(AHC)is a rare pediatric syndrome characterized by recurring episodes of hemiplegia or quadriplegia,and frequently accompanied by dystonic posturing,choreoathetosis movements,anomalous ocular motions,and a gradual deterioration in cognitive function.The principal etiology of this disorder is traced back to mutations in the ATP1A3 gene.Case presentation Here,we report a 16-year-old girl with recurrent hemiplegia since her infancy.This patient has experienced paroxysmal limb weakness and aphasia for over 15 years,and has kept seeking medical attention but without receiving effective treatment.A misdiagnosis of hysteria persisted for over 4 years until the patient’s admission to our hospital.Whole-exome sequencing identified a known pathogenic heterozygous c.2270T>C(p.Leu757Pro)mutation in her ATP1A3 gene.Notably,her clinical manifestations,including pathological emotional responses and autonomic dysfunction,differed from the established profile associated with the same ATP1A3 mutation,which typically present with intellectual disability,a rostrocaudal symptom gradient,choreoathetosis,and dysarthria.The patient was finally diagnosed with AHC and treated with flunarizine thus significantly ameliorated hemiplegic episodes.Conclusions This case enhances our understanding of the intricate clinical manifestations of AHC,which require careful differentiation from various diseases such as epilepsy,hysteria,and paroxysmal dyskinesias.In the diagnosis of patients presenting with suspected symptoms,adhering to a systematic approach for localizing and diagnosing neurological disorders is crucial to prevent misdiagnosis and inappropriate treatments.Additionally,when AHC is suspected in a patient,genetic testing should be considered as part of the diagnostic approach.
文摘Dyke Davidhoff Masson syndrome (DDMS) was first described by Dyke Davidhoff and Masson in 1933 in a series of 9 patients [1]. It’s a very rare condition presenting in childhood ranging from infancy to late adolescence [2]. It is characterised by cerebral hemiatrophy, unilateral ventriculomegaly, calvarial thickening, skull and facial asymmetry, sometimes even contralateral hemiplegia in childhood and seizures [2]. An adult presentation is seen in late adolescence or teen age. However in literature the latest presentation reported so far is at 19 years of age [3]. We report a case of Dyke Davidhoff Masson syndrome who presented first time at the age of 28 years which is probably the oldest presentation of this rare entity reported in the literature.
