Factores asociados a hidrocefalia congénita / Factors associated to congenital hydrocephaly

RESUMEN La hidrocefalia congénita constituye un síndrome polimórfico, que reúne afecciones diversas que conllevan a la discapacidad mental y a la muerte, puede aparecer como una malformación aislada o asociarse a otras, relacionada con un gran número de defunciones. La mayoría de los casos diagnosticados prenatalmente no llegan al nacimiento, lo cual significa que es necesario la prevención preconcepcional de los factores de riesgo asociados, los cuales son disímiles y en su mayoría prevenibles. Se revisó la bibliografía actualizada en las bases de datos bibliográficas Scielo y ClinicalKey, además de tesis de terminación de las especialidades Embriología Médica, Ginecobstetricia, Pediatría y Medicina Interna. Entre los factores de riesgo asociados se destacan el déficit de ácido fólico, las infecciones maternas, así como agentes físicos y químicos. El objetivo fue exponer los referentes teóricos relacionados con la hidrocefalia congénita y sus factores asociados, basándose en los fundamentos teóricos más actualizados (AU).

SUMMARY Congenital hydrocephaly is a polymorphic syndrome comprising diverse diseases that lead to mental disability and death. It could appear like an isolated malformation or associated to other malformations and is related to a great number of deceases. Most of the cases diagnosed prenatally are not borne, meaning not only that incidence is slow, but also that a great work is needed in the pre-conceptive prevention of the associated risk factors that are different and mostly preventable and modifiable. That is why it is an important multifactorial health problem. Among the associated risk factors the most important are folic acid deficit, maternal infections, and also physical and chemical agents. The theoretical referents related to congenital hydrocephaly and its associated factors are declared the aim of this research on the basis of the most updated theoretical principles (AU).

Hemorragia subaracnóidea espontânea não aneurismática: perimesencefálica versus não perimesencefálica / Non-aneurysmal spontaneous subarachnoid hemorrhage: perimesencephalic versus non-perimesencephalic

RESUMO Objetivo: Comparar a evolução clínica da hemorragia subaracnóidea perimesencefálica com a da hemorragia subaracnóidea não perimesencefálica. Métodos: Estudo retrospectivo, que incluiu pacientes portadores de hemorragia subaracnóidea sem causa conhecida em um hospital terciário localizado na região norte de Portugal. Os dados epidemiológicos, clínicos e de imagem foram analisados estatisticamente, levando em conta a divisão dos pacientes em duas categorias: hemorragia subaracnóidea perimesencefálica e hemorragia subaracnóidea não perimesencefálica. Resultados: Cumpriram os critérios de inclusão 62 pacientes, 46,8% deles com hemorragia subaracnóidea perimesencefálica e 53,2% com hemorragia subaracnóidea não perimesencefálica. As caraterísticas demográficas, assim como os antecedentes clínicos, foram similares entre os grupos. As complicações foram observadas mais comumente no grupo com hemorragia subaracnóidea não perimesencefálica, sendo que 84,8% desses pacientes tiveram, no mínimo, uma complicação, comparados a 48,3% dos pacientes com hemorragia subaracnóidea perimesencefálica. Vasoespasmo, infecções e hidrocefalia foram as complicações mais comuns - todas observadas mais frequentemente nos pacientes com hemorragia subaracnóidea não perimesencefálica. Dois pacientes vieram a falecer, ambos com hemorragia subaracnóidea não perimesencefálica. A mediana do tempo de permanência no hospital foi maior nos pacientes com hemorragia subaracnóidea não perimesencefálica (21 dias, em comparação aos 14 dias observados nos pacientes com hemorragia subaracnóidea perimesencefálica). Não se observaram recidivas de sangramento durante o acompanhamento (tempo médio de 15 ± 10,3 meses). Conclusão: As hemorragias subaracnóideas perimesencefálica e não perimesencefálica tiveram formas diferentes de evolução clínica, principalmente no que se referiu à taxa de complicações e ao tempo mediano de permanência no hospital. Assim, a abordagem dessas duas formas de hemorragia subaracnóidea deve ser distinta, tanto em busca de melhorar o tratamento dos pacientes quanto para obter um melhor aproveitamento dos recursos de saúde.

ABSTRACT Objective: To compare the clinical evolution of perimesencephalic subarachnoid hemorrhage and non-perimesencephalic subarachnoid hemorrhage. Methods: The study was conducted retrospectively in a tertiary hospital center in the north region of Portugal. Included patients had no identifiable cause for subarachnoid hemorrhage. Several epidemiologic, clinical and imaging aspects were statistically analyzed, taking into account the differences in perimesencephalic subarachnoid hemorrhage and non-perimesencephalic subarachnoid hemorrhage. Results: Sixty-two patients met the inclusion criteria (46.8% - perimesencephalic subarachnoid hemorrhage; 53.2% - non-perimesencephalic subarachnoid hemorrhage). Demographic and clinical background characteristics were similar in both groups. Complications were more frequent in patients with non-perimesencephalic subarachnoid hemorrhage - 84.8% of the patients had at least one complication versus 48.3% in perimesencephalic subarachnoid hemorrhage. Vasospasm, infection and hydrocephaly were the most common complications (each was detected more frequently in the non-perimesencephalic subarachnoid hemorrhage group than in perimesencephalic subarachnoid hemorrhage group). Two patients died, both had a non-perimesencephalic subarachnoid hemorrhage. The median inpatient time was longer in the non-perimesencephalic subarachnoid hemorrhage group (21 versus 14 days). No incidents of rebleeding were reported during the follow-up period (mean time of 15 ± 10.3 months). Conclusion: Perimesencephalic subarachnoid hemorrhage and non-perimesencephalic subarachnoid hemorrhage are two different entities that have different clinical outcomes, namely in terms of complication rate and median inpatient time. The management of these patients should respect this difference to improve treatment and optimize health care resources.

Quiste coloide del tercer ventrículo en un niño. A propósito de un caso / Colloid cyst. Report of a case in a child

Los quistes coloides son lesiones congénitas e infrecuentes, con una frecuencia del 0,2 al 2 % de todos lo tumores intracraneales. Se presentan en adultos jóvenes y tiene predominio en varones. Normalmente esféricos u ovoides, tienen un tamaño que varía desde pocos milímetros hasta tres o cuatro centímetros de diámetro. Comienzan a ser sintomáticos en la adolescencia o edad adulta temprana. Las manifestaciones clínicas pueden ser intermitentes y poco específicas. Deben ser considerados entre los diagnósticos diferenciales de cefalea en niños y adultos jóvenes, puede ser causa temprana de hidrocefalia aguda y síntomas neurológicos inespecíficos. El tratamiento recomendado es su extirpación quirúrgica temprana. Se presenta este caso por su presentación ocasional y extraordinaria en edad pediátrica.

The colloid cysts are infrequent congenital lesions of the brain. They are more frequent in adolescent and young adults, who present different clinical manifestation. The shape and size is variable. They should be considered in adolescent and young adults, it is common the early and acute presentation of hydrocephaly. We describe this case, because the unusual presentation in a child. The recommended treatment is the early surgical removal of the cyst.

Hidrocefalia en un niño como manifestación de neurocisticercosis: reporte de un caso y revisión de tema / Hydrocephalus in children as a manifestation of neurocysticercosis: case report

La cisticercosis es una enfermedad producida por un parásito endémico en muchas regiones de Centro y Suramérica, el cual puede invadir el sistema nervioso central y manifestarse como una epilepsia y con menor frecuencia como hidrocefalia. La infección de Tenia solium en su estadolarvario se adquiere por la ingesta de sus huevos, los cuales están presentes en la materia fecal de humanos portadores del parásito adulto. Una vez en la luz intestinal, las oncoesferas invaden la pared del intestino delgado y migran, vía hematógena, a diferentes órganos, entre ellos el cerebro.Presentamos un caso que se manifiesta con hidrocefalia y hacemos una revisión del tema.

Neurocysticercosis is a disease caused by an endemic parasite in many regions of Central and South America. Itcan invade the central nervous system and manifests asan epileptic syndrome and hydrocephalus. Taenia soliuminfection in their larval stage is acquired by ingestionof the parasite eggs present in the feces of human adult carriers, once in the intestinal lumen the oncospheresinvade the bowel wall and migrate hematogenously to different organs including the brain. We present a casethat shows hydrocephalus and then review the issue.

Melanosis neurocutánea con hidrocefalia obstructiva: A propósito de un caso / Neurocutaneous Melanosis with Obstructive Hydrocephaly: A Case Report

Antecedentes. Esta rara hamartomatosis melanocítica de la piel y leptomeninges fue descrita por Vichow en 1859 y nombrada como Melanosis Neurocutanea por Von Bogaert en 1948. Puede reconocerse clínicamente por la presencia en la piel de nevus pigmentados de color oscuro, gruesos y pilosos, repartidos en forma "de Baño de asiento" (hipogastrio, nalgas y parte superior de los muslos) con manifestaciones neurológicas expresadas por hidrocefalia, convulsiones y retraso mental. Existe elevado riesgo de malignización de los nevus. La mayoría de los casos son esporádicos, aunque se ha sugerido un patrón de herencia autosómico dominante con expresividad variable (MIM: 249400). Presentación de caso. Paciente femenina de 6 meses de edad, producto de cuarta gestación, a término, normopeso, padres jóvenes no consanguíneos e historia familiar negativo de defecto congénitos. En la exploración física se comprobaron múltiples nevus pigmentados con al distribución y característica de una Melanosis Neurocutánea; a partir de los dos meses se comprobaron fontanela anterior tensa y rápido crecimiento del perímetro cefálico confirmado por TAC una hidrocefalia obstructiva con marcada dilatación de III y IV ventrículo motivo por el cual le fue realizada por Neurocirugía una derivación de LCR ventrículo-peritoneal. Evoluciona con un marcado retraso en el desarrollo psicomotor. Fallece a la edad de 13 meses. Conclusión. Melanosis Neurocutánea asociada a Hidrocefalia obstructiva por Melanosis difusa del S.N.C.

Background: This rare melonocytic hamartoma of the skin and leptomeninges was first described by Vichow in 1859 and named Neurocutaneous Melanosis by Von Bogaert in 1948. Clinically, it is recognised due to the presence in the skin of dark pigmented, thick and pilose nevi spread like a "seat bath" (hypogastric region, buttocks, the upper part of the thighs), having neurological disorders which are expressed by hydrocephaly, seizures and mental retardation. The risk of malignancy in the nevi is observed. The majority of the cases are sporadic, though a pattern of autosomal dominant heredity with a variable expression (MIM: 249400) is suggested. Case Report: A six-months female patient, born from the fourth pregnancy, in term, normal weight and having young no consanguineous parents and a negative familial history of genetic defects was treated in the neurosurgical consultation. In the physical examination multiple pigmented nevi were observed with a distribution and features which matched with a Neurocutaneous Melanosis; starting from the two months of age, the anterior fontanel was tense and a sudden growing of the cephalic perimeter was observed; confirming with CAT-scan an obstructive hydrocephaly which showed a marked dilatation of the 3rd and 4th ventricles of the brain; this was the reason, to perform by means of a neurosurgery a CSF ventriculoperitoneal shunt. A marked retardation of the psychomotor development was observed, dying at 13 months of age. Conclusion: Neurocutaneous Melanosis associated with an Obstructive Hydrocephaly due to a Diffuse Melanosis of the Central Nervous System (CNS).

Toxoplasmosis congénita, hospital gineco-obstétrico Enrique C. Sotomayor / Congenital toxoplasmosis, obstetric and gynecologic hospital Enrique Sotomayor

Presentamos el caso clínico de un neonato de sexo masculino hospitalizado desde su nacimiento en el hospital maternidad “Enrique C. Sotomayor”, en la sala de infectología neonatal con diagnóstico de toxoplasmosis congénita, el mismo que evidenció signología clínica compatible con este evento, complementándose con exámenes de laboratorio y exámenes radiológicos que apoyaron el diagnóstico. El neonato presentó hidrocefalia, visceromegalia, derrame pericárdico, así como procesos infecciosos para lo cual recibió tratamiento específico.

We are presenting the clinical case of a masculine neonate hospitalized since birth in the Maternity hospital “Enrique C. Sotomayor”, in the ward of neonatal infectious diseases with congenital toxoplasmosis diagnosis, who evidenced clinical signology compatible with this event, complemented by laboratory and radiological tests which supported the diagnosis. The neonate presented hydrocephaly, visceromegaly, pericardial shed blood, as well as infectious processes for which he received specific treatment.