Hemiplejía alternante de la infancia tratada como epilepsia. Dos nuevos casos

Guevara-Campos, José; Guevara, Loreth; Urbaez-Cano, J.; Tinedo, Ricardo William Saldoya; Villamizar, Martha Lucía Rey; Rojas, Lizeth

doi:10.33588/rn.4006.2004494

Cited by 3 publications

(8 citation statements)

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“…Krakelog and Aicardi [2], in a work published in 1980, differentiated AHC from other types of hemiplegia such as basilar migraine, since they considered AHC to be a definite entity, and they made the criteria for diagnosis of AHC. Recently, more than 250 cases of AHC have been reported worldwide, and in the Latin American only 10 cases have been reported, two of which were reported by us in Venezuela [3].…”

Section: Introductionmentioning

confidence: 93%

“…These paroxysmal manifestations diminish and may disappear with the age, near the age of 5-7 years, especially the nonspecific paroxysmal crisis (tonic and dystonic posturing, nystagmus as well as strabismus) although the hemiplegic crisis does not disappear completely. Factors triggering such crisis include fatigue and certain emotional conditions (anger, excitement) [3,19].…”

Section: Paroxysmal Manifestationsmentioning

confidence: 99%

“…Neuroimaging studies (cranial CT, MRA, cerebral MRI and MRS) have been reported to be normal in published series of AHC [3][4][5][6]. Several studies have shown alterations on SPECT images.…”

Section: Complementary Studiesmentioning

confidence: 99%

“…AHC is easily confused with epilepsy [3,5,41] especially with cases of partial epilepsies refractory to the antiepileptic treatment since both cases are refractory to the treatment of epilepsy, especially at the beginning of the illness, when the hemiplegic crisis of AHC has not yet appeared. Epilepsy is a very common misdiagnosis at an early stage of AHC.…”

Section: Differential Diagnosismentioning

confidence: 99%

“…The only valid treatment is the administration of flunarizine. Several previous studies demonstrated that this medication resulted in reduction of the frequency, duration and intensity of hemiplegic crisis in patients with AHC [3][4][5]. The flunarizine is a selective calcium channel blocker, utilized against migraine, and can be used for prophylaxis against basilar and internal carotid artery vasospasm [51].…”

Section: Treatmentmentioning

confidence: 99%

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Alternating hemiplegia of childhood

Campos¹,

Cano²,

Tinedo³

et al. 2015

J Pediatr Neurol

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We reviewed the etiologic aspects, clinical symptoms, complementary studies, differential diagnosis and treatment of alternating hemiplegia of childhood (AHC). AHC is an uncommon illness of uncertain pathophysiology that provokes crisis of transient hemiplegia affecting one hemibody or occasionally both at the same time. Clinical symptoms of AHC usually begin before the age of 18 months and in some cases may present in the neonatal period. Clinical symptoms include abnormal ocular movements such as nystagmus and dystonic or tonic posturing. Hemiplegic attacks are not associated with alteration of consciousness. Hemiplegia may disappear after arousal and may reappear 10 to 20 minutes after arousal in children with AHC. The diagnosis of AHC is clinically made, and most of the clinically used diagnostic tests result in negative. The treatment of AHC includes flunarizine. It is necessary to suspect this diagnosis to identify patients with AHC.

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Section: Introductionmentioning

confidence: 93%

Section: Paroxysmal Manifestationsmentioning

confidence: 99%

Section: Complementary Studiesmentioning

confidence: 99%

Section: Differential Diagnosismentioning

confidence: 99%

Section: Treatmentmentioning

confidence: 99%

See 3 more Smart Citations

Alternating hemiplegia of childhood

Campos¹,

Cano²,

Tinedo³

et al. 2015

J Pediatr Neurol

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Hemiplejia Alternante de la infancia asociada a variante patogénica del gen ATP1A3

Sandoval¹,

López²

2022

Andes pediatr

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La hemiplejia alternante de la infancia (HAI) es una enfermedad rara caracterizada por episodios de hemi/cuadriplejia, posturas distónicas, movimientos oculares anormales y trastornos del movimiento. Las mutaciones del gen ATP1A3 son las más frecuentemente asociadas a HAI. Objetivo: Exponer un caso clínico de HAI, en el que el estudio genético y la observación de videos caseros fueron de gran utilidad diagnóstica. Caso Clínico: Paciente de sexo femenino, quien a los 3 meses de vida presentó varios episodios de posturas distónicas, clonías de extremidades, versión cefálica y desviación lateral de la mirada, de varios minutos de duración. Inicialmente se diagnosticó epilepsia y se inició tratamiento con levetiracetam, sin mejoría. Se realizó EEG y RM cerebral que resultaron normales. Con esto, se descartó epilepsia y se sospechó distonía transitoria del lactante. Sin embargo, los eventos se hicieron más frecuentes, de mayor duración y característicamente cedían durante el sueño. Los familiares aportaron videos caseros aclaratorios de los eventos. A los 6 meses de vida cursó con hemiparesia transitoria alternante. El panel genético de distonías evidenció variante patogénica del gen ATP1A3, confirmando diagnóstico de HAI. Se inició tratamiento con flunarizina con buena respuesta clínica a los 12 meses de seguimiento. Conclusiones: El diagnóstico de HAI es complejo y se confunde frecuentemente con epilepsia. Es importante realizar correctamente el diagnóstico diferencial, incluyendo anamnesis, exámenes como EEG y la minuciosa observación de los eventos clínicos, que con el actual acceso a tecnología audiovisual se hace más asertivo. El análisis genético constituye una gran herramienta diagnóstica que realizado a tiempo evita otros estudios y terapias innecesarias.

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Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review

Rissardo,

Vora,

Singh

et al. 2024

Rambam Maimonides Med J

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Alternating hemiplegia of childhood (AHC) is a complex neurodevelopmental disorder characterized by paroxysmal and transient events of unilateral or bilateral paresis, usually occurring before 18 months of age. Mutations in the ATP1A3 gene, mainly p.Asp801Asn, p.Glu815Lys, and p.Gly947Arg at the protein level, are found in around 80% of the individuals with AHC. Interestingly, these mutations reflect the degree of severity of the neurological symptoms (p.Glu815Lys > p.Asp801Asn > p.Gly947Arg). Some channels involved in this disorder are N-type voltage-gated calcium channels, ATP-sensitive potassium channels, and the sodium/calcium exchanger. In this context, the management of AHC should be divided into the treatment of attacks, prophylactic treatment, and management of comorbidities commonly found in this group of individuals, including epilepsy, attention-deficit/hyperactivity disorder, aggressive behavior, cognitive impairment, movement disorders, and migraine. The importance of an integrated approach with a multidisciplinary team, such as neuropsychologists and dietitians, is worth mentioning, as well as the follow-up with a neurologist. In the present study, we propose new diagnostic criteria for AHC, dividing it into clinical, laboratory, supporting, and atypical features. Also, we review the location of the mutations in the ATP1A3 protein of individuals with AHC, rapid-onset dystonia-parkinsonism (RDP) variants, and early infantile epileptic encephalopathy (variants with hemiplegic attack). We also include a section about the animal models for ATP1A3 disorders.

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Hemiplejía alternante de la infancia tratada como epilepsia. Dos nuevos casos

Cited by 3 publications

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Alternating hemiplegia of childhood

Alternating hemiplegia of childhood

Hemiplejia Alternante de la infancia asociada a variante patogénica del gen ATP1A3

Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review

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