Síndrome de encefalopatía posterior reversible en el postparto. Estudio de caso / Posterior reversible encephalopathy syndrome in postpartum. Case study

El objetivo del presente ensayo es evaluar el síndrome de encefalopatía posterior reversible en el posparto en una paciente de 22 años, sin antecedentes patológicos personales, antecedentes ginecoobstetricos G(1), C(1), A(0), P(0). Antecedente quirúrgico, cesárea segmentaria de 39 semanas de gestación que es referida por presentar cuadro clínico de 24 horas posteriores a la cesárea segmentaria con dolor abdominal, vómitos y distensión abdominal por lo que es intervenida quirúrgicamente donde realizan re-lapartomias para control de daños. Es ingresada a la Unidad de terapia intensiva con apoyo ventilatorio y sin apoyo vasopresor. Se le realiza Angioresonancia evidenciándose, en secuencia s3DI MC, se identifican las arterias cerebrales anteriores, arterias cerebrales medias, arterias comunicantes posteriores, arteria comunicante anterior y el segmento P1, P2 de la arteria cerebral posterior bilateral con diámetros trayectos conservados. Sin embargo, llama la atención la disminución del diámetro de las arterias corticales de las arterias cerebrales posteriores segmento P3 bilateral. Se concluye que el conocimiento del PRES debe ser extenso y de amplia difusión, de modo que todos los actores relacionados con el cuidado de la salud materna identifiquen de forma precoz y oportuna la condición, reducir la morbimortalidad materna y las secuelas neurológicas a largo plazo(AU)

The objective of this trial is to evaluate the posterior reversible encephalopathy syndrome in the postpartum in a 22-yearold patient, with no personal medical history, G (1), C (1), A (0), P (0). Surgical history, segmental cesarean section of 39 weeks of gestation that is referred for presenting a clinical picture 24 hours after segmental cesarean section with abdominal pain, vomiting and abdominal distension, for which she undergoes surgery where re-lapartomies are performed for damage control. She admitted to the intensive care unit with ventilator support and without vasopressor support. Angioresonance performed, showing, in s3DI MC sequence, the anterior cerebral arteries, middle cerebral arteries, posterior communicating arteries, anterior communicating artery and segment P1, P2 of the bilateral posterior cerebral artery with preserved trajectory diameters identified. However, the reduction in the diameter of the cortical arteries of the bilateral posterior cerebral arteries segment P3 is striking. It concluded that the knowledge of PRES should be extensive and widely disseminated, so that all actors related to maternal health care identify the condition early and in a timely manner, reduce maternal morbidity and mortality and longterm neurological sequelae(AU)

Dyke-Davidoff-Masson syndrome and chiari type ii malformation / Síndrome de Dyke-Davidoff-Masson e malformação de chiari tipo II

Dyke-Davidoff-Masson Syndrome is a syndrome associated with refractory epilepsy. The Chiari II malformation is a complex congenital malformation of the brain. The authors report a case of a 15 years-old adolescent presenting Dyke-Davidoff-Masson syndrome and Chiari type II malformation association. This case demonstrates an unusual association in neuroimaging tests that indicates the need to evaluate associated diseases, such as myelomeningocele, corpus callosum dysgenesis and syringohydromyelia.

A Síndrome de Dyke-Davidoff-Masson é uma síndrome associada à epilepsia refratária. A malformação de Chiari II é uma malformação congênita complexa do cérebro. Os autores relatam um caso de uma adolescente de 15 anos apresentando a síndrome de Dyke-Davidoff-Masson associada à malformação de Chiari tipo II. Este caso demonstra uma associação incomum nos exames de neuroimagem que indica a necessidade de avaliar doenças associadas, como mielomeningocele, disgenesia do corpo caloso e a siringohidromielia.

Lesiones pseudo quísticas cerebrales: diagnóstico diferencial prenatal de esquizencefalia-porencefalia / Pseudo cystic brian injury: differential and prenatal diagnosis of schizencephaly and porencephaly

Congenital anomalies of the central nervous system (CNS), although relatively frequent, can present prenatally with a wide dysmorphic spectrum. CNS anomalies can be classified into two groups; those in which a neurulation defect occurs during the first weeks of development, widely known as neural tube defects (NTDs), and those affecting lately the development of the brain during the time of neural proliferation, migration or organization. In addition, there are pseudo-cystic lesions affecting the brain parenchyma, which origin can be difficult to establish during examination of the fetal brain. Schizencephaly is a typical example of neural migration disorder and porencephaly is usually secondary to an external insult either caused by an infection, hemorrhage, or trauma. These lesions present several features at ultrasound and magnetic resonance imaging that can be used in the differential diagnosis. We review this topic and propose some imaging signs which may help in establishing the prenatal diagnosis.

Las anomalías congénitas que comprometen el Sistema Nervioso Central (SNC) son relativamente frecuentes aunque presentan un amplio espectro dismorfico en la etapa fetal. Estas lesiones pueden ser clasificadas en dos grupos, aquellas con defecto de la neurulación que ocurren durante las primeras semanas de la gestación, clásicamente conocidos como defectos del tubo neural (DTN), y las anomalías que comprometen posteriormente el desarrollo del cerebro durante la etapas de proliferación, migración u organización neuronal. Existen sin embargo, lesiones pseudo quísticas del parénquima cerebral que pueden llevar a confusión durante el examen cerebral fetal. La esquizencefalia es un típico ejemplo de defecto de migración neuronal y la porencefalia habitualmente es secundaria a una injuria externa de tipo infecciosa, hemorrágica o traumática. Estas lesiones presentan algunas características típicas al ultrasonido (US) y a la resonancia magnética (RM) que pueden ser considerados criterios para el diagnóstico diferencial prenatal. Se revisa el tema y se proponen algunos signos imagenológicos para clarificar el diagnóstico prenatal.

Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome.

Encephalocraniocutaneous lipomatosis is a congenital hamartomatous disorder with unique ocular, cutaneous and neurological features. A 13-year-old boy presented with history of mental retardation and delayed developmental milestones. Bulbar conjunctiva of left eye showed hypertrophy with a soft reddish limbal nodule encroaching on the cornea. Dermatological examination showed multiple patches of alopecia, soft papules in the left perioral and periorbital areas, soft masses over the right axilla, trunk and in the lumbosacral region suggestive of lipomas. The CT scan of the brain revealed well-defined, hypodense lesions in both the cerebellar hemispheres suggestive of lipomas. The constellation of these findings led us to a diagnosis of encephalocraniocutaneous lipomatosis.

Isolated lissencephaly sequence with contiguous gene deletion detected by FISH analysis: a case report.

BACKGROUND: Lissencephaly is a clinically and genetically heterogeneous malformation of the brain, usually leading to a severe disabling condition and seizures. The recent discovery of molecular techniques and identification of lissencephaly genes (e.g. LISI and DCX) has allowed etiologic diagnosis of this disorder feasible. OBJECTIVE: To describe a patient with lissencephaly in whom fluorescence in situ hybridization (FISH) determined etiologic diagnosis, providing precise genetic counseling and possible prenatal diagnosis for the family. CLINICAL REPORT AND STUDY RESULTS: The authors report a 4 month-old girl who presented with intractable, generalized myoclonic seizures at I month of age. The patient was born at 37 weeks' gestation, to a G4P1A2 36-year-old woman. Chromosome analysis from amniotic fluid performed for advanced maternal age revealed normal karyotype. Pregnancy was complicated by polyhydramnios. Computed tomographic scan of the brain at age one month showed a total absence of gyral formation. FISH of the metaphase chromosome from the patient, using Smith-Magenis and Miller-Dieker/ILS probe showed two signals of Smith-Magenis probe but only one signal of Miller-Dieker/ILS probe, indicating a microdeletion of 17pl3.3 region including LIS1 gene. Hybridization of the ILS probe on the metaphase chromosome of both parents was normal. CONCLUSION: A confirmation of contiguous gene deletion in this patient lead to an etiologic diagnosis of lissencephaly. This information allowed precise genetic counseling, estimation of recurrent risk, and definite prenatal diagnosis available to the family. The authors suggest FISH 17p13.3 studies be performed in addition to a standard metaphase analysis in all patients with type I lissencephaly.

Síndrome de Aicardi: relato de dois casos e avaliaçäo da resposta à estimulaçäo das funçöes visuais básicas / Aicardi syndrome: report of two cases and evaluation of the response to stimulation of basic visual functions

A Síndrome de Aicardi é caracterizada pela presença do corio-retinopatia com defeitos lacunares, agenesia do corpo caloso, espasmos infantis e retardo mental. Os autores relatam dois casos de pacientes do sexo feminino, com sete meses de idade, com a Síndrome de Aicardi, tendo sido observadas lesöes patognomônicas corio-retinianas em exame oftalmológico e confirmado a presença de anormalidades congênitas cerebrais através da tomografia computadorizada. O eletroencefalograma revelopu hipsarritmias atípicas. A resposta do potencial visual evocado mostrou-se normal. A avaliaçäo radiológica revelou ausência de alteraçöes costo-vertebrais. Avaliaram-se as respostas quantitativas e qualitativas da estimulaçäo das funçöes visuais básicas

Hallazgos ecoencefalográficos en recien nacidos con peso inferior a 1.500 grs / Echoencephalographic findings in newborns with less of 1.500 g of weigth

Se realizó el estudio en 65 pacientes que ingresaron al Servicio de Neonatología del Hospital Materno Infantil; de Enero a Diciembre 1990, se presentaron alteraciones craneales ecograficas (Hemorragia Intraventracular) afectando en mayor proporción a recien nacidos de 33 a 36 semanas de gestación (50) con peso entre 1200 a 1500 grs (53); en cuanto a la via de nacimientos el 60 fueron obtenidos por via vaginal, asociados en mayor proporción a la asfixia perinatal y transtornos metabólicos; de igual manera el grupo mas afectado (52) correspondio a madres con roptura prematura de membranas. La evolución fue favorable en 93. Concluimos que la ecografia craneal es un procedimiento sencillo, no invasivo, de bajo costo, permitiendo el diagnóstico en forma precoz.