A neonate with filamin A gene-associated periventricular nodular heterotopia / 中华围产医学杂志

This paper reported a neonate with periventricular nodular heterotopia associated to filamin A ( FLNA) gene mutation. The female patient was born at 29 +6 weeks of gestation to a mother who had intractable seizures and a history of two adverse pregnancy outcomes. Postnatal cranial ultrasound showed multiple hypoechoic masses on the walls of bilateral ventricles, which presented as "sawtooth pattern". MRI revealed gray matter displacement, unclear edge of gray and white matter, wavy bilateral ventricles and multiple nodular signals. Whole exon sequencing showed that the patient carried a maternally-inherited and likely pathogenic heterozygous mutation of chrX:153579307 in the FLNA gene (NM_00111 0556; p.Glu2376fsTer9), which caused the periventricular nodular heterotopia in the neonate. The patient was followed up until eight months of age and no convulsion or obvious abnormality in her growth or development was reported.

Report of a case of grey matter heterotopia combined with epilepsy due to TUBB2B gene variant and review of literature / 中华神经科杂志

Objective:To report the clinical phenotype and mutation site of a patient with grey matter heterotopia caused by a de novo heterozygous missense mutation in the TUBB2B gene, and to expand the phenotypic and mutational spectrum of TUBB2B mutations. Methods:One patient with TUBB2B mutation who presented to the Department of Neurology, the First Affiliated Hospital of Air Force Medical University in July 2017 was collected and analyzed for clinical features and mutation site, and a review of previous studies was performed. Results:The male patient started at the age of 18 and presented mainly with seizures, poor left-handed fine motor skills and poor spatial imagination. Magnetic resonance imaging showed nodular grey matter heterotopia in the right cerebral hemisphere, right frontoparietal-temporal localized cerebral gyrus, and cerebral sulcus shallow flat.The whole exon gene test suggested a heterozygous missense mutation in the TUBB2B gene: c.776 C>T (p.Pro259Leu), which was wild-type in both of his parents. The mutation site was located between the tubulin and tubulin-c structural domains and did not affect the function of the essential structural domain. After treatment with magnesium valproate in combination with levetiracetam, the patient′s seizure symptoms were significantly controlled and he has been seizure-free for 3 years now. Conclusions:The TUBB2B gene c.776 C>T (p.Pro259Leu) heterozygous missense mutation is a novel missense mutation causing grey matter heterotopia. The patient had a good prognosis, and the combination of two antiepileptic drugs resulted in complete seizure control.

Intrauterine Device Totally Embedded in the Bladder Wall:Report of One Case / 中国医学科学院学报

Intrauterine device(IUD)migrating to the bladder is rare,especially the migration far away from the uterus into the bladder wall.Due to no obvious clinical symptom in the early stage and being far away from the uterus,the IUD totally embedded in the bladder wall is prone to misdiagnosis and delay in treatment.We reported one case of such migration,aiming to improve the clinical management of the IUD totally embedded in the bladder wall.

Intranasal glioma (Nasal heterotopia): A rare cause of nasal polyp in neonates

A 3-month-old boy presented with an intranasal polypoidal mass protruding out of the nostril which was present since birth and growing slowly. The mass was non-pulsatile and soft to firm in consistency. It did not increase in size on coughing, crying, or compression of the jugular vein. Magnetic resonance imaging and contrast-enhanced computed tomography (CT) revealed a lobulated well-circumscribed soft tissue mass in the left nasal cavity with no intracranial communication. Complete surgical excision of the mass was carried out via an intranasal endoscopic approach. Histopathological examination confirmed the diagnosis of intranasal glioma.

Large orbital glial heterotopia- A rare entity

A 15-month-old child was brought to the ophthalmology outpatient department with his parents complaining of a large mass located on the nasal side of his right eye since birth. On examination, an irregular mass was seen to be located on the nasal side of his right orbit, obscuring the visual axis. On a contrast-enhanced computed tomography scan, a heterogenous lesion was seen to be located on the bridge of the nose and the medial aspect of the right orbit without any bony defect or communication with the brain or sinuses. In view of the possibility of developing amblyopia, the lesion was surgically removed. On histopathological examination, a diagnosis of extranasal glial heterotopia was made. To the best of our knowledge, this is the largest extranasal glial heterotopia in the orbit to be ever reported.

Signo de "doble corteza" visualizado en corregistro 18F-FDG PET/RM en un paciente con heterotopia subcortical en banda / "Double Cortex" Sign Visualized in 18F-FDG PET / MRI Coregistration in a Patient with Band Subcortical Heterotopia

Resumen La heterotopia subcortical en banda (HSB) se refiere a la presencia de bandas lisas bilaterales de sustancia gris cerebral ubicadas en la sustancia blanca subcortical. La presentación clínica es variable, con cuadros que incluyen discapacidad intelectual, crisis epilépticas y trastornos de conducta muy variados, lo que hace complejo su diagnóstico. Presentamos el caso de un varón de 20 años con largo historial de epilepsia refractaria a tratamiento, remitido a nuestra unidad para un estudio de tomografía por emisión de positrones/tomografía computada (PET/CT) con 18F-fluorodesoxiglucos (18F-FDG) para la búsqueda del foco epileptógeno. Adicionalmente, se realizó un corregistro de PET con un estudio de resonancia magnética (RM) de otra institución, observando el signo de doble corteza cerebral por RM y PET/CT, visualizando característicamente un patrón hipermetabólico en las zonas de heterotopia subcortical en banda.

Abstract Subcortical band heterotopia (HSB) refers to the presence of smooth bilateral bands of gray matter located in the subcortical white matter. Clinical presentation is widely variable, the presentation includes intellectual disability, epileptic seizures and varied conduct disorders, making a complex diagnosis. We present a case of a 20-year-old male with a long history of treatment-refractory epilepsy referred to our center for a 18F-FDG (18F-fluorodeoxyglucose) PET/CT (Positron Emission Tomography/Computed Tomography), to search for the epileptogenic focus. Additionally, a registration was carried out with another magnetic resonance imaging study (MRI), where the sign of double cerebral cortex was documented by MRI and PET/CT, visualized as a hypermetabolic pattern in subcortical band heterotopia.

Clinical and imaging features of neuroglial heterotopia in children / 中华放射学杂志

Objective:To summarize the clinical and imaging features of pediatric neuroglial heterotopia (NGH) in different locations.Methods:The clinical and preoperative imaging data of 9 patients (6 boys and 3 girls, median age 3 months, range from 1 to13 months) with NGH confirmed by pathology were retrospectively reviewed in Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science and Technology from October 2009 to December 2020. All patients underwent preoperative CT or/and MR examination. Follow-up was performed in 12 to 60 months after operation, with a median follow-up time of 24 months. The location, range, size, density/signal intensity of the lesions were reviewed.Results:Of all 9 cases, three cases were located in nose (2 extranasal type and 1 mixed type), with the maximum diameter of 13, 13 and 15 mm; there were 3 lesions in tongue, all of which were located on the dorsum of tongue, with the maximum diameter of 13, 18 and 23 mm; there were also 2 cases located in nasopharynx, maximum diameter of 15 and 22 mm, respectively. One case was in sacrococcygeal area, with the maximum diameter as 18 mm. All lesions presented as solid masses with well-defined margins, displaying slightly low density compared to grey matter. The CT value ranged from 25 to 47 HU. Compared to grey matter or spinal cord, MRI demonstrated isointense or slight hypointense on T 1WI and slight hyperintense on T 2WI. All masses presented homogenous density or signal intensity, with mild homogenous enhancement. During postoperative follow-up, no recurrence was found in 8 cases. One case of nasal NGH with gradeⅡcleft lip recurred at 1 month follow-up after surgery, and no recurrence was found after the second surgery. Conclusions:The NGH in children has typical imaging features, and is mostly located at the extracranial midline structure.It presents as solid mass, with quasi-circular morphology, well-defined margins and homogeneous density or signal intensity similar to gray matter or spinal cord. The postoperative recurrence rate is low.

Application of turning head to the opposite insertion side in PICC patients / 中国实用护理杂志

Objective:To investigate the effects of turning head to the opposite insertion side on catheter heterotopia and degree of comfort among PICC catheter patients.Methods:The inpatients with PICC catheter in Hepatological Surgery of Changzhi People′s Hospital from January 2018 to December 2019 were collected as research object, patients from January to December 2018 was assignment to the control group, patients from January to December 2018 was assignment to the experimental group, with 174 cases in each group. They were catheterized with turning head to the opposite insertion side and turning head to the PICC insertion side, respectively. The incidence of catheter heterotopia, complications as well as degree of comfort during the placement of PICC were compared between the two groups.Results:The successful cases of one-time delivery tube and occurred catheter heterotopia were 97.1% (169/174) and 1.2% (2/174) in the experimental group, the index mentioned above were 91.4% (159/174) and 7.5% (13/174) in the control group, the differences between the two groups were statistically significant ( χ2=5.30, 8.43, both P<0.05). The results from survival curve analysis demonstrated that the occurred of catheter-related venous thrombosis and catheter-related bloodstream infections were significantly lower in the experimental group compared to the control group ( χ2=15.23, 8.76, both P<0.05). The score of comfort during the placement of PICC was (15.00 ± 2.19) in the experimental group, which was significantly lower than (16.86 ± 1.88) points in the control group ( t=8.49, P<0.05). Conclusions:Adopting turning head to the opposite insertion side method can improve the success rate of one-time delivery tube, reduce the incidence of catheter heterotopia and reduce the discomfort of patients during PICC catheterization.

Heterotopías sexuales, una localización epistemológica / Sexual heterotopies, an epistemological localization / Heterotopias sexuais, uma localização epistemológica

Resumen El presente ensayo analiza el concepto de «heterotopía¼ propuesto por Michel Foucault como una localización epistemológica a propósito de las imbricaciones existentes entre las dimensiones espaciales y sexuales. Así, el objetivo de este ensayo es trazar una asociación entre la vida urbana y aquellas libertades singulares que se pretender obtener en el imaginario de una ciudad. Para tales cometidos el texto reúne una serie de entrevistas etnográficas que engloban, por un lado, la caracterización de un desplazamiento localizado por varones homosexuales y, por el otro, un recurso epistemológico para pensar dichos movimientos espaciales.

Abstract The present essay analyzes the concept of "heterotopía" proposed by Michel Foucault as an epistemological location with regard to the imbrications existing between the spatial and sexual dimensions. Thus, the aim of this essay is to draw an association between urban life and those singular freedoms that are intended to obtain in the imaginary of a city. For such tasks the text brings together a series of ethnographic interviews that include, on the one hand, the characterization of a displacement located by homosexual men and, on the other, an epistemological resource to think about these spatial movements.

Resumo O presente ensaio analisa o conceito de "heterotopia" proposto por Michel Foucault como uma localização epistemológica em relação às imbricações existentes entre as dimensões espacial e sexual. Assim, o objetivo deste ensaio é traçar uma associação entre a vida urbana e as liberdades singulares que se pretende obter no imaginário de uma cidade. Para tais tarefas, o texto reúne uma série de entrevistas etnográficas que incluem, por um lado, a caracterização de um deslocamento localizado por homens homossexuais e, por outro, um recurso epistemológico para pensar sobre esses movimentos espaciais.

Olhar e espaço como heterotopia na pintura de Manet: uma leitura de Michel Foucault / Glance and space as heterotopy in Manet's painting: a look on Foucault's interpretation / La Mirada y el espacio como heterotopía en lapintura de Manet: una lectura de Michel Foucault

O artigo demonstra a dimensão heterotópica do olhar e do espaço próprios à pintura de Manet. O espaço, tal como concebido por Foucault, se constitui como poder-saber, e o olhar, tal como erigido pela pintura de Manet, visibiliza as heterotopias. A metodologia consistiu na seleção e análise crítica dos textos de Foucault sobre a pintura de Manet e a heterotopia acrescida de bibliografia de comentadores voltados para a análise da pintura, da arte e da heterotopia na obra do pensador. A raridade da reflexão sistemática acerca das considerações foucaultianas sobre a pintura e o espaço concebido como "espaço outro" faz com que a demonstração do entrelaçamento entre o espaço produzido pelas pinturas de Manet e a heterotopia configure novidade na literatura dedicada ao pensador. Concluímos indicando como as discussões estéticas estão indissoluvelmente ligadas às análises do poder. Neste caminho, Foucault indica, por exemplo, que a experiência da transgressão batailliana do olhar evidencia a condição da visualidade pictórica das telas de Manet. A visibilização dos efeitos políticos do espaço e seus outros assim como da produção artística pavimenta um caminho possível para esboçar novas compreensões das relações dos corpos com os enraizamentos espaciais e seus desdobramentos subjetivos singulares...(AU)

This article demonstrates the heterotopic dimension of glance and space in Manet's painting. Space, as conceived by Foucault, is constituted as power-knowledge, and glance, as defined by Manet's painting, reveals heterotopies. The methodology consisted in the selection and critical analysis of Foucault's texts on Manet's painting and the heterotopia plus bibliography of Foucault readers focused on the analysis of painting, art and heterotopia. The rarity of the systematic reflection of the Foucauldian reflections on painting and the space conceived as different space makes the demonstration of the interweaving between the space produced by Manet's paintings and heterotopia configure novelty in the literature dedicated to the thinker. We conclude by indicating how the aesthetic discussions are inextricably linked to the analysis of power. This path that Foucault indicates, for example, that the experience of Bataillean`s transgression of gaze evidences the condition of the pictorial visuality of Manet's canvas. The visibility of the political effects of space and other effects as well as of artistic production paves the way to sketch new understandings of the relationships of bodies with spatial roots and their unique subjective unfoldings...(AU)

El artículo pretende demostrar la dimensión heterotópica de la mirada y del espacio en la pintura de Manet. El espacio concebido por Foucault se constituye un poder-saber, y la mirada erigida por la pintura de Manet visibiliza las heterotopías. La metodología consistió en la selección y análisis crítico de los textos de Foucault sobre la pintura de Manet y la heterotopía, y en la bibliografía de comentaristas dirigidos al análisis de la pintura, del arte y de la heterotopía en la obra del pensador. La rareza de la reflexión sistemática de las reflexiones foucaultianas sobre la pintura y el espacio considerado como "espacio otro" hace que la demostración del entrelazamiento entre el espacio producido por las pinturas de Manet y la heterotopía sea una novedad en la literatura dedicada al pensador. En la conclusión indicamos cómo las discusiones estéticas están indisolublemente vinculadas a los análisis del poder. En este marco, Foucault apunta, por ejemplo, que la experiencia de la transgresión batailliana de la mirada evidencia la condición de la visualidad pictórica de los lienzos de Manet. La viabilidad de los efectos políticos del espacio y sus otros, así como de la producción artística, pavimenta un camino posible para esbozar nuevas comprensiones de las relaciones de los cuerpos con los enraizamientos espaciales y sus desdoblamientos subjetivos singulares...(AU)

Clinical and genetic analysis of a patient with periventricular nodular heterotopia 7 caused by NEDD4L gene variant / 中华医学遗传学杂志

Objective@#To explore the genetic basis of a patient featuring global developmental delay, intellectual disability, cleft palate, seizures and hypotonia.@*Methods@#Clinical examination and laboratory tests were carried out. Peripheral blood samples were obtained from the patient and his parents. Whole genomic DNA was extracted and subjected to next generation sequencing. Candidate variation was analyzed by using bioinformatic software and validated by Sanger sequencing.@*Results@#The proband was found to carry a heterozygous c. 2117T>C (p.Leu706Pro) variant of the NEDD4L gene, which was a de novo variant validated by Sanger sequencing and predicted to be likely pathogenic according to the American College of Medical Genetics Guidelines.@*Conclusion@#The heterozygous variant of c. 2117T>C (p.Leu706Pro) of the NEDD4L gene probably underlies the disorders in the patient.

Heterotopia de mucosa gástrica en el intestino delgado, hallazgo en videocápsula endoscópica. Reporte de caso / An endoscopic videocapsule finding of heterotopia of the gastric mucosa of the small intestine

Resumen Introducción: la heterotopia de mucosa gástrica se refiere a la localización ectópica de mucosa gástrica en cualquier parte del tracto gastrointestinal. Es una causa poco frecuente de úlceras gastrointestinales y sangrado digestivo oculto. La videocápsula endoscópica se ha convertido en una herramienta fundamental para el estudio del intestino delgado. Métodos: estudio descriptivo de reporte de caso. La información de la historia clínica, reporte de patología y estudios endoscópicos, se extrajo de las bases de datos de la Fundación Valle del Lili. Resultados: paciente masculino de 71 años, en quien se realizó videocápsula endoscópica por un sangrado digestivo oculto y se encontraron segmentos de estenosis y úlceras en el yeyuno. La histopatología reveló la presencia de mucosa gástrica heterotópica. Conclusión: la heterotopia de mucosa gástrica debe considerarse como una causa posible de sangrado del intestino delgado.

Abstract Introduction: Heterotopia of the gastric mucosa refers to an ectopic location of gastric mucosa in any part of the gastrointestinal tract. It is a rare cause of gastrointestinal ulcers and occult digestive bleeding. Endoscopic videocapsules have become fundamental tools for study of the small intestine. Methods: This is a descriptive case study based on information from the medical history, pathology report and endoscopic studies extracted from the databases of the Fundación Valle del Lili in Cali, Colombia. Results: An endoscopic videocapsule was used to examine a 71-year-old male patient who suffered from occult digestive bleeding. Segments of stenosis and ulcers were found in the jejunum and histopathology revealed heterotopic gastric mucosa. Conclusion: Heterotopy of the gastric mucosa should be thought of as a possible cause of bleeding in the small intestine.

One case of patient with bilateral ectopic subclavian vein catheterization / 中华烧伤杂志

One female patient aged 18 years, with severe burns and inhalation injury was admitted to our unit on June 5th, 2013. After admission, the right subclavian vein catheterization was performed for rapid fluid infusion against shock. Escharectomy on both upper extremities was planned to carry out and repaired with medium-thickness skin on right thigh 52 hours after injury. However, after general anesthesia, the right subclavian vein catheter was with poor fluid infusion, and the left subclavian vein catheterization was performed. Supraventricular tachycardia and decreased blood pressure occurred followed by fluid replacement and dilatation, cardiotonics, and diuretics. Postanesthetic 1.3 hours, the patient′s vital signs were stable, and the operation began. Postoperative chest X-ray film showed that distal ends of the left and right subclavian vein catheters were respectively located in the right atrium and the right internal carotid vein, and the catheters were removed immediately. This case suggests that clinical physician should be careful to prevent catheter heterotopia in subclavian vein catheterization, and postoperative routine chest X-ray examination is necessary to identify position of the catheter.

A case of FLNA gene mutation with respiratory insufficiency and periventricular heterotopia

Filamin A is an actin-binding protein and, in humans, is encoded by FLNA gene in the long arm of X chromosome. Filamin A plays a role in the formation of cytoskeleton by crosslinking actin filaments in cytoplasm. FLNA mutations affect cytoskeletal regulatory processes and cellular migrating abnormalities that result in periventricular heterotopia. A 5-month-old girl was hospitalized because of breathing difficulty and was diagnosed as having periventricular heterotopia with laryngomalacia, cricopharyngeal incoordination, pulmonary hypertension, and chronic lung disease. A genetic test was performed to find the cause of periventricular heterotopia, and FLNA gene mutation (c.5998+1G>A) was confirmed for the first time in Korea. After discharge, she developed respiratory failure due to a viral infection at 8 months of her age. In spite of management with mechanical ventilation, she died of pneumothorax and pulmonary hemorrhage. Herein, we report a case of FLNA gene mutation who presented with periventricular nodular heterotopia with respiratory insufficiency.

Glial heterotopia in an adult: A rare orbital mass.

Heterotopic glial tissue is very rare in the orbit. Our case was an adult, which is unique since most cases reported in literature involve children. We describe a case of a 60‑year‑old man who presented with an orbital mass, which histopathologically revealed heterotopic glial tissue.

Dispositivos penales juveniles: atravesamientos institucionales / Youth criminal devices: institutional traversal

El presente escrito se desprende del proyecto de beca de culminación de doctorado que se propone identificar la relación entre la cultura organizacional de los Centros Socioeducativos de Régimen Cerrado y el desgaste profesional de sus miembros. Estas instituciones son Dispositivos Penales Juveniles que alojan a los jóvenes que han infringido la ley penal. En esta oportunidad se presenta la indagación de los orígenes de las mismas. Se propone la consideración teórica de los Centros como heterotopías de desviación (Foucault, 1967). Asimismo se exponen los resultados obtenidos hasta el momento respecto al sentimiento de frustración encontrado en los trabajadores que conforman estas instituciones y se articulan con la noción de desgaste mental producido por la insatisfacción en el trabajo (Dejours, 1992). Por último se señala la incidencia de los atravesamientos jurídico e institucional en ésta particular institución concebida como la respuesta estatal para los jóvenes que han cometido un delito.

This letter follows the draft grant doctoral culmination aims to identify the relationship between organizational culture Socioeducativos closed centers and professional wear of its members. These institutions are hosting Youth Criminal Devices young people who have broken the law. This time the investigation of the origins of these presents. the theoretical consideration of the Centers as heterotopias of deviation (Foucault, 1967) is proposed. The results obtained so far regarding the feeling of frustration found in workers who make up these institutions also exposed, articulate with the notion of mental exhaustion caused by dissatisfaction at work (Dejours, 1992). Finally the impact of legal and institutional atravesamientos in this particular state institution designed as a response to young people who have committed a crime noted.

Tuta e a cidade: arquivos domésticos das infâmias urbanas / Tuta and the city: domestico´s archives of urban infamy

Resumo O presente ensaio utiliza estratégias biografemáticas para acontecimentalizar nossos arquivos domésticos da infâmia urbana. Não se busca juízo ou verossimilhança. Não se pretende dizer o que o personagem experienciou: seria sufocar mais uma vez sua voz. Pretende-se apenas experimentar ver que cidade se vê ao nos reinventarmos com o contágio-tuta. Que cidade se produz ao nos afundarmos nas heceidades da sua vida ao ponto de repensar as nossas? É deste modo que se busca acontecimentalizar nossa cidade com fragmentos infames em uma heterotopia doméstica que acontecimentalize os arranjos de subjetivação existentes em nossas cidades desde seu surgimento até a atualidade.(AU)

Abstract This essay utilizes biographematics strategies to eventualization ours domestic´s archives of the urban infamy. We do not search for judgment or verisimilitude. We want just an experimental act of assemblage. Which city we can produce when we are infect whit the singularities of other life? What we can see of our habits whit the life of an infamy? In this essay, we want to make an effort to reinvent ours domestic lives beyond the disciplinary and control strategies. Whit the heterotopia of an infamy life, we proposes an eventualization of ours domestic´s archives.(AU)

EscritaCom: heterotopias / Writewith: heterotopias / Escrituracon: heterotopías

Este artigo focaliza uma reflexão sobre a escritaCom a partir do conceito de heterotopia. O conceito de heterotopia permitiria uma zona de aproximação e de criação de um espaço outro, na medida em que se considerar que um exercício de escrita se faz em um espaço. A heterotopia torna-se fio condutor para um exercício de pensamento sobre a escritaCom. Afirma-se que a escritaCom constitui uma possibilidade heterotópica porque o escrever exclusivamente solitário constitui uma utopia. Isto porque nunca se escreve solitariamente: multiplicidades de vozes fazem-se presentes a cada pensamento e a cada palavra. A escritaCom é tomada como uma política de pesquisa e torna-se, ela mesma, a condição mediante a qual a pesquisa se encontra com a vida. Um vetor afetivo que permite perseguir desdobramentos éticos e políticos na pesquisa, a partir do qual se tornaria possível conciliar política e afetos.

This article focuses on the writeWith embodied methodology from the vantage point of the concept of heterotopia. Heterotopia would allow an approach zone and creation of an other-place, to the extent that one may consider that a writing exercise is conducted somewhere. Heterotopia becomes the conducting wire for a thought exercise that engages writingWith. We contend that to writeWith is a heterotopic possibility because to write alone, exclusively, is a utopia. One never writes alone: a multiplicity of voices make themselves present in each thought and in each word. When writeWith is adopted as a research policy it becomes a mediating condition for the encounter of research with life; it becomes an affective vector that allows one to follow ethical and political unfoldings in the research, and through which it would become possible to reconcile policies and affects.

El presente artículo objetiva ofrecer una reflexión sobre la escrituraCon, tomando como punto de partida el concepto de heteronomía. El concepto de herotonomía es una zona de aproximación y de creación de un espacio otro, en la medida en que se considera que el ejercicio de la escritura se hace en un espacio. La heteronomía tornase hilo conductor para un ejercicio de pensamiento sobre la escrituraCon. Se afirma que la escrituraCon constituye una posibilidad heterotópica, porque el escribir exclusivamente solitario constituye una utopía. Esto porque nunca se escribe solitariamente: multiplicidades de voces se hacen presentes en cada pensamiento y encada palabra. La escrituraCon, es tomada como un política de la investigación e se torna, ella misma, a condición mediante la cual la investigación se encuentra con la vida. Un vector afectivo que permite dar seguimiento a desdoblamientos éticos y políticos en la investigación, a partir de lo que se tornaría posible la conciliación de política y afectos.

A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus

Wolf-Hirschhorn syndrome is a congenital disorder associated with partial deletion of the short arm of chromosome 4. The majority of patients showed characteristic facial anomalies - so called "Greek-Helmet" appearances - mental retardation, growth retardation, and developmental delay. Here we report the case of a 3-year-old girl who was diagnosed as having Wolf-Hirschhorn syndrome immediately at birth with distinct facial anomalies and an abnormal chromosomal karyotype [46,XX,del(4)(p14)]. The patient later presented with status epilepticus and magnetic resonance imaging showed periventricular nodular heterotopia.

Heterotopía nodular periventricular, objetivo quirúrgico en epilepsia refractaria al manejo farmacológico / Periventricular Nodular Heterotopia, Surgical Goal in Drug-Resistant Epilepsy / Heterotopia Nodular Periventricular, objetivo cirúrgico em epilepsia refratária ao manejo farmacológico

Introducción: La heterotopía neuronal es un defecto de la migración en el cual estas células no completan su desplazamiento hacia la corteza. La forma más comúnmente reportada es la heterotopía nodular periventricular, caracterizada por conglomerados neuronales que se ubican adyacentes a las paredes de los ventrículos laterales. Hasta el 90% de los pacientes con esta condición presentan epilepsia en algún momento de la vida y una gran proporción de ellos serán refractarios al manejo farmacológico. Esto hace necesario un adecuado abordaje diagnóstico que busque establecer qué pacientes se beneficiarían de resección quirúrgica de la lesión, que en la mayoría de los casos ofrece una alta tasa de control de crisis. Desarrollo: Se presenta un recorrido desde la práctica por los aspectos con mayor relevancia en cuanto a la fisiopatología, manifestaciones clínicas, abordaje diagnóstico y terapéutico de la heterotopía nodular periventricular, con el fin de explorar el rol de esta condición como causante de epilepsia refractaria. Conclusión: La epilepsia refractaria al tratamiento condiciona de manera significativa la calidad de vida de los pacientes. Una entidad frecuentemente asociada a esto es la heterotopía nodular periventricular, la cual debe ser correctamente abordada por el equipo médico tratante procurando un diagnóstico oportuno y definiendo qué pacientes se benefician del manejo quirúrgico. De esta manera, se impacta positivamente la calidad de vida de estos sujetos y de sus cuidadores.

Introduction: Neuronal heterotopia is a migration disorder in which these cells do not complete their movement toward the cerebral cortex. Periventricular nodular heterotopia is the most frequently reported form, characterized by neuronal conglomerates adjacent to the lateral ventricles walls.About 90 % of patients with this condition suffer epilepsy at some point in their lives and the major proportion of them will be resistant to pharmacologic treatment. This makes an appropriate diagnostic approach necessary in order to determine which patients would benefit from surgical resection of the lesion, which in most cases offers a high rate of crisis control. Development: This article presents a review of the most important topics approached from the practice of periventricular nodular heterotopia pathophysiology, clinical features, diagnosis and therapy. It is aimed at exploring the role of this condition as a cause of intractable epilepsy. Conclusion: Pharmacologic treatment for resistant epilepsy will have a severe impact on patient's quality of life. Periventricular nodular heterotopia is frequently associated to this condition, which must be successfully approached by the medical team attempting to an opportune diagnosis and defining which patients would benefit from surgical management. This positively impacts the quality of life of these patients and their caregivers.

Introdução: A heterotopia neuronal é um defeito da migração no qual estas células não completam seu deslocamento ao córtex. A forma mais comunmente reportada é a heterotopia nodular periventricular, caracterizada por conglomerados neuronais que se localizam adjacentes às paredes dos ventrículos laterais. Até o 90% dos pacientes com esta condição apresentam epilepsia em algum momento da vida e uma grande proporção deles, serão refratários ao manejo farmacológico. Isto faz necessária uma adequada abordagem diagnóstica, buscando estabelecer quais pacientes se beneficiariam de ressecção cirúrgica da lesão, que na maioria dos casos oferece uma alta taxa de controle de crises. Desenvolvimento: Se apresenta um recorrido desde a prática pelos aspectos com maior relevância em quanto à fisiopatologia, manifestações clínicas, abordagem diagnóstica e terapêutica da heterotopia nodular periventricular. Com o fim de explorar o rol desta condição como causador de epilepsia refratária. Conclusão: A epilepsia refratária ao tratamento condiciona de maneira significativa à qualidade de vida dos pacientes. Uma entidade frequentemente associada a isto é a heterotopia nodular periventricular, a qual deve ser corretamente abordada pela equipe médica tratante procurando um diagnóstico oportuno e definindo quais pacientes se beneficiam de manejo cirúrgico. Desta forma impacta-se positivamente a qualidade de vida destes sujeitos e de seus cuidadores.