A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing / Mutación de novo recurrente en el gen ATP1A3 en una paciente mexicana con hemiplejia alternante de la infancia detectada por secuenciación masiva en paralelo

Abstract Background: Pediatric movement disorders represent a diagnostic challenge for pediatricians and pediatric neurologists due to their high clinical heterogeneity and shared common features. Therefore, specific diagnoses require different approaches including metabolic work-up and specific tests for frequent genetic conditions. Alternating hemiplegia of childhood (AHC) is an ultra-rare pediatric movement disorder, characterized by paroxysmal alternating hemiplegia, dystonia, and seizure-like episodes that can be misleading during the evaluation of a child with a movement disorder. Case report: We present a Mexican patient with abnormal movements referred to the Genetics clinic because of hyperammonemia and a possible organic acidemia. Our assessment did not find clinical features compatible with an inborn error of metabolism. A massively parallel sequencing approach with targeted panel sequencing was used to get a final diagnosis. A missense variant c.2839G>A (p.Gly947Arg) located at exon 21 of ATP1A3 gene was demonstrated. This variant (rs398122887) has been previously reported as de novo producing alternating hemiplegia of childhood (AHC). Conclusions: AHC is an ultra-rare syndrome presented as a movement disorder with seizure-like episodes and a unique facial phenotype. Clinicians should be aware of this combination in order to diagnose this condition in a timely manner. Massive parallel sequencing panels are emerging as the best approach to diagnose rare movement disorders and simultaneously rule out metabolic disorders and common epileptic syndromes.

Resumen Introducción: Los trastornos pediátricos del movimiento representan un reto diagnóstico para pediatras y neurólogos pediatras debido a su gran heterogeneidad clínica y características comunes compartidas. Por lo tanto, los diagnósticos específicos requieren de diferentes abordajes que incluyen la búsqueda de desórdenes metabólicos y pruebas específicas para condiciones genéticas frecuentes. La hemiplejia alternante de la infancia (AHC) es un trastorno pediátrico del movimiento poco común, caracterizado por cuadros paroxísticos de hemiplejia alternante, distonía y episodios semejantes a crisis epilépticas, que pueden resultar desorientadores durante el abordaje diagnóstico de un infante con un desorden del movimiento. Caso clínico: Presentamos una paciente mexicana con movimientos anormales referida a la Clínica de Genética por hiperamonemia y una posible acidemia orgánica. Nuestro abordaje no identificó características clínicas compatibles con un error innato del metabolismo. Se utilizó un abordaje basado en secuenciación masiva en paralelo para obtener un diagnóstico final. Se demostró una variante de sentido equivocado c.2839G>A (p.Gly947Arg) localizada en el exón 21 del gen ATP1A3. Esta variante (rs398122887) ha sido previamente reportada como de novo, ocasionando AHC. Conclusiones: La AHC es un síndrome excepcionalmente raro que se presenta con un trastorno del movimiento con cuadros semejantes a crisis epilépticas y un fenotipo facial particular. Los médicos deben ser conscientes de esta combinación con el fin de diagnosticar oportunamente esta condición. Los paneles de secuenciación masiva están emergiendo como el mejor abordaje para diagnosticar trastornos del movimiento raros y, simultáneamente, descartar trastornos metabólicos y síndromes epilépticos comunes.

Persistencia de movimientos en espejo congénitos en una hemiplejía por infarto cerebral / Persistance of congenital mirror movements in the hemiplejic side after ischemic stroke

The simultaneous and involuntary displacement of the opposite limb during a volitional movement is called mirror movements. They mimic the gesture, partly or wholly. They can be congenital, familiar or installed in various CNS pathologies. We present a 64 years old woman with familiar history of mirror movements that affect their hands, since childhood. At admission presented confused with left hemiplegia and homolateral sensory involvement. The brain CT defined a right ischemic stroke affecting the posterior limb of the internal capsule, lenticular nucleus, sub insular region and par ventricular white matter. The paretic left hand, unable to perform voluntary movements, presented mirror movements during volitional movements of the contra lateral hand. Neurophysiologic studies have suggested that mirror movements are due the activation of the direct corticospinal pathway or simultaneous discharge of both motor cortexes due inhibitory pathways failures. Cortical origin seems unlikely for the movements in this patient, due to the injury of the internal capsule. Our case could be interpreted by the simultaneously brain innervations on both anterior horns, together with a congenital deregulation of the Central Pattern Generator Networks.

Se denomina movimiento en espejo (ME) el desplazamiento involuntario, imitativo y simultáneo de la extremidad opuesta al de un movimiento volitivo. Los ME pueden tener un origen congénito y familiar o generarse por patologías diversas del sistema nervioso central. Se presenta una mujer de 64 años con el antecedente de ME desde la infancia de carácter familiar. Ingresa en estado confusional y presentando una hemiplejía y hemihipoestesia faciobraquicrural izquierda. La tomografía cerebral mostraba compromiso del brazo posterior de la cápsula interna, núcleo lenticular, región subinsular y de la sustancia blanca paraventricular. La mano izquierda pléjica que era incapaz de realizar movimientos voluntarios, se movía en espejo al mover la mano derecha. Esta curiosa manifestación hace necesario una más ajustada interpretación neurofisiológica de los movimientos en espejo. Se ha postulado una activación de la vía corticoespinal directa, o la descarga simultánea de ambas cortezas motoras por fallas en la natural inhibición transcortical. En este caso parece improbable un origen cortical contralateral de los movimientos, debido a la lesión de la cápsula. Tal vez podrían comprenderse los ME de esta paciente, si se demostrara una doble inervación de ambas astas anteriores, asociada a una falla en la inhibición normal por desregulación congénita de los Circuitos Generadores Centrales.

Migraña hemipléjica esporádica: a propósito de un caso clínico / Sporadic hemiplegic migraine: a clinical case

Las cefaleas constituyen una causa frecuente de consulta en pediatría, siendo la migraña el tipo más frecuente de cefalea primaria en la infancia. La migraña hemipléjica (MH) es una variante infrecuente de migraña con aura, reconociéndose dos subtipos: familiar (MHF) y esporádica (MHE). Se caracteriza por la presencia de crisis migrañosas con trastornos motores deficitarios transitorios, afasia o alteraciones sensitivas o sensoriales. Describimos el caso de una niña de 9 años, sana, sin antecedentes familiares de MH, con una historia de cefaleas migrañosas de 3 años de evolución, que cumple con los criterios establecidos por la International Headache Society de MHE. El examen neurológico fuera de los episodios y los exámenes complementarios fueron normales. Se realizó tratamiento profiláctico con topiramato con buena evolución.

Headache is a frequent cause of pediatric medical consultation, migraine is the most frecuent child primary headache. Hemiplegic migraine (HM) is a rare subtype of migraine with aura headache, it has two variants: familial (FHM) and sporadic (SHM). It presents with migraine attacks associated with some degree of transient hemiparesia, dysphasic speech or sensitive or sensorial symptoms. We describe a 9 years old girl, healthy, without familial history of HM, with 3 years evolution of migraine headaches that fulfill the International Headache Society`s criteria for SHM. The neurologic examination and laboratory tests were normal...

Dyke-Davidoff-Masson syndrome.

Dyke Davidoff Masson syndrome (DDMS) is characterized by seizures, facial asymmetry, contralateral hemiplegia and mental retardation. The characteristic radiologic features are cerebral hemiatrophy with homolateral hypertrophy of the skull and sinuses. We report a case of DDMS in an 18-month-old girl who presented with right sided focal seizures, hemiparesis of the same side, and delayed milestones.

Hemiplejía con dos signos de Babinski / Hemiplegia with two Babinski´s sign

La evaluación semiológica apropiada es uno de los aspectos más importantes para realizar un adecuado diagnóstico neurológico. Presentamos una paciente colombiana de 60 años de edad, quien padeció un infarto de la arteria cerebral media izquierda, originándole hemiplejía derecha, afasia motora, parálisis facial "central" derecha y atrofia del músculo platisma derecho. Este último hallazgo, originalmente descrito por Joseph Babinski, el cual es el verdadero signo de Babinski, no fue identificado sino hasta dos años y siete meses después de haberse presentado el ictus, aunque había sido evaluada, previamente, por diferentes especialistas en ciencias neurológicas. La no identificación de signos como el mencionado aquí lleva, en ocasiones, a realizar diagnósticos erróneos o incompletos afectando no sólo la localización apropiada de las lesiones sino, también, las eventuales medidas que se deben tomar en la neurorrehabilitación de estos pacientes.

Neurological signs and symptoms are very important to establish a correct neurological diagnosis. We present here a Colombian female patient, 60 yearsold, who had ischaemic stroke in the left cerebral media artery. It produced right hemiplegia, motor aphasia, "central" facial palsy and atrophy of right platysma muscle. This latter finding, described originally by Joseph Babinski as "The Babinski Sign" was observed only two years and seven months after the ictus even when she had, previously, been evaluated by several neurologists. The underdiagnosis of clinical signs like the one described here may lead to erroneous diagnosis that will, ultimately, affect neurorehabilitation measures.

Hemiplegia congênita e adquirida na criança: interrelação entre a presença de crises epilépticas e os achados eletrencefalográficos / Congenital and acquired hemiplegia in children: epileptic crisis and eletrencephalografic signs

PURPOSE: The aim of the study is to compare the presence or absence of seizures and their relationship with the electroencephalographic findings in children with congenital and acquired hemiplegia. METHODS: 35 children with congenital and acquired hemiplegia were studied by clinical and electroencephalographic features. We analyzed the frequency and seizures severity and their relationship between the background activity and epileptogenic discharges in the electroencephalogram (EEG). RESULTS: From the 35 children, 26 (74.6%) presented congenital hemiplegia and 9 (25.6%) acquired one. Seventeen (48.5%) had right hemiplegia and 18 (51.4%) left one. It was find 25 cases (71.4%) with seizures and 10 cases without seizures. All the patients with seizures presented abnormal EEG activity that was bilateral in 44% of the cases. The patient without seizures presented abnormal background activity in 90% of cases and only 10% were bilateral. Concerning epileptogenic activity, it was find 78% of patients with seizures and 68% of patients without seizures.There was statistical significance related to abnormal background activity and uncontrolled epileptic seizures. CONCLUSION: The bilateral disorganization of the background activity in the EEG is related with uncontrolled seizures. The background activity well organized in the opposite side of lesion has a good prognosis to control seizures. The epileptogenic focal activity isn't always related with the presence of seizures.

Tratamento do trauma penetrante das artérias carótidas no Hospital João XXII. Comparação entre ligadura e reconstrução arterial / Management of penetrating carotid artery trauma at Hospital João XXIII. A comparison between arterial ligation and reconstruction

Objetivo: Comparar dados de pacientes com lesões penetrantes em artérias carótidas submetidos a reconstrução arterial e ligadura.Métodos: Análise retrospectiva de vítimas de trauma de artéria carótida interna e comum entre fevereiro de 1999 e maio de 2003,avaliando o tipo de tratamento das lesões e a evolução quanto aos déficits neurológicos.Resultados: Ocorreram 28 lesões penetrantes em artérias carótidas (27 homens, idade média de 22,2 anos). Foram feitas 23 reconstruções arteriais, sendo que dois pacientes evoluíram com hemiplegia e nenhum óbito. A ligadura foi realizada em cinco pacientes, com um óbito e dois casos evoluindo com déficit neurológico permanente. A ligadura arterial foi fator significativo para desenvolvimento de déficit neurológico (P < 0,05). Em dois casos a reconstrução arterial foi feita em pacientes com déficit neurológico prévio, que apresentaram melhora do quadro, recebendo alta sem alterações motoras. Houve 18 lesões em carótida comum (dois pacientes evoluíram com déficit neurológico após reconstrução arterial) e 10 em carótida interna (um óbito, dois com déficit neurológico após ligadura).Conclusão: A reconstrução arterial no trauma penetrante de carótidas levou a uma menor incidência de complicações, em pacientes com ou sem déficit neurológico à admissão. Lesões em artéria carótida interna têm maior morbidade.

Neurocysticercosis presenting as Weber's syndrome.

This case report describes a rare, non-epileptic manifestation of neurocysticercosis where a 22-year-old male presented with acute onset right 3rd nerve palsy with left hemiplegia (Weber syndrome). Computerized tomography and magnetic resonance imaging revealed cysticercus granuloma. The patient improved and became asymptomatic with steroid treatment. Recognizing this clinical entity would avoid unnecessary antituberculous treatment and surgical intervention.

Hemiplegia and motor aphasia following scorpion sting.

Hemiplegia and motor aphasia are rare complications following scorpion sting. This report describes a case of hemiplegia and motor aphasia occurring in a young child, following a scorpion sting.

Avaliaçäo da dor no ombro em paciente com acidente vascular cerebral / Shoulder pain evaluation in stroke patients

O objetivo desse estudo preliminar é avaliar as causas de dor no ombro de pacientes hemiplégicos, bem como verificar a ocorrência e a evolução do tratamento da síndromoe dolorosa miofascial (SDMF). As queixas predominantes foram dor em queimor em quatro, peso em três e incaracterísticas em dois. Nenhum paciente referiu queixas de formigamento, choque, adormecimento e agulhadas. Quatro pacientes foram infiltrados em PGs na musculatura posterior do ombro, um em bpiceps e outro em peitoral maior. Hão houve melhora significativa na evolução dolorimétrica de pressão e na goniometria após a infiltração desses PGs (p>0,05). Nesse estudo, diagnosticamos por meios clínicos e/ou radiológicos (RX e USG): um paciente com capsulite adesiva, um com tendinite biciptal e outro com tendinite no supra-espinhal. Não se diagnosticou subluxação na articulação glenoumeral, nem sinais clínicos de lesão nervosa periférica.

MR and CT imaging in the Dyre-Davidoff-Masson syndrome: report of three cases and contribution to pathogenesis and differential diagnosis

Cerebral hemiatrophy of Dyke-Davidoff-Masson syndrome is a condition characterized by seizures, facial asymmetry, contralateral hemiplegia or hemiparesis, and mental retardation. These findings are due to cerebral injury that may occur early in life or in utero. The radiological features are unilateral loss of cerebral volume and associated compensatory bone alterations in the calvarium, like thickening, hyperpneumatization of the paranasal sinuses and mastoid cells and elevation of the petrous ridge. The authors describe three cases. Classical findings of the syndrome are present in variable degrees according to the extent of the brain injury. Pathogenesis is commented.

Chedoke-McMaster stroke assessment: una escala de medición para el hemipléjico adulto / Chedoke-McMaster stroke assessment: a measure scale in the adult hemiplegic patients

El propósito de esta comunicación es dar a conocer una escala de medición para pacientes que han sufrido accidente cerebreo-vascular. La escala creada por fisioterapéutas del Chedoke-McMaster Hospital y la Universidad McMaster (Canadá), que ha sido ampliamente validad y aplicada en clínicas, proporciona información objetiva sobre los déficit motores e incapacidad funcional gruesa del paciente al ingreso durante su evolución. Además entrega información de valor pronóstico. Se incluyen también conceptos básicos sobre válidez y confiabilidad de las mediciones

Clinical and etiological profile of ataxic hemiparesis.

We studied the clinical profile and etiology of 28 cases of ataxic hemiparesis. After a detailed neurological examination, CT scan brain (plain and after IV contrast) was done in all. Age ranged from 18 to 80 years. Acute onset of symptoms was in 22, while 6 had insidious onset. 18 patients had major infarct, while 4 patients had lacunar infarct. 2 patients were found to have haematoma (1 following head injury) and 1 each had tuberculoma, meningioma, glioma and toxoplasma granuloma. The lesions were seen in various parts of brain stem, thalamus, basal ganglion, internal capsule and frontal, parietal and temporal region. Heterogeneity as regards to etiology and localisation is being highlighted.

Hemiparesia recorrente como apresentaçäo clínica de osteoma do seio frontal: relato de caso / Recurrent hemiparesis as the clinical presentation of an osteoma of frontal sinus: case report

Relato do caso de paciente portador de osteoma de seio frontal cujo crescimento intracraniano levou à formaçao de pneumoencéfalo intracerebral. A manifestaçao clínica foi a de hemiparesia recorrente. Sao discutidos os mecanismos que explicam a ocorrência do pneumoencéfalo e revisao da literatura é apresentada. A associaçao de osteoma, pneumoencéfalo e hemiparesia foi mencionada em uma ocasiao na literatura, mas sem o caráter recorrente do déficit motor, como no caso relatado.