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).

Hidrocefalia Congénita: Síndrome de Gómez-López-Hernández, un síndrome subdiagnosticado. Caso clínico / Congenital Hydrocephalus: Gómez-López-Hernández syndrome. An underdiagnosed Syndrome. A clinical case

Resumen: Introducción: Las hidrocefalias son condiciones complejas influenciadas por factores genéticos y ambientales. Excluyendo las hidrocefalias adquiridas por infección o tumores encefálicos, las hidrocefalias congénitas de causa genética pueden ocurrir de forma aislada (hidrocefalia aislada, pura o no sindromática) o como componente de un síndrome genético definido (hidrocefalia sindromática). Objetivo: Presentar una hidrocefalia congénita sindromática con un diagnóstico co nocido, y realizar una revisión de la literatura. Caso clínico: Preescolar con diagnóstico prenatal de hidrocefalia y romboencefalosinapsis, cariotipo y estudio de TORCH normales. Al nacer se confirmaron los diagnósticos prenatales y se excluyó malformación del desarrollo cortical cerebral. En la primera semana de vida se realizó derivación ventrículo peritoneal. En una reevaluación a la edad de 4 años, la ausencia de reflejos corneales y alopecia parietal bilateral asociado a romboencefalosinapsis reunieron los criterios diagnósticos definitivos de una displasia cerebelo-trigémino dermal (Síndrome de Gómez, López-Hernández (SGLH)). Conclusiones: El SGLH es un síndro me neurocutáneo infrecuente, posiblemente una condición esporádica que está subdiagnostica da. Con las nuevas tecnologías imageneológicas y genéticas pre y post natales podemos acceder a un diagnóstico de precisión de las hidrocefalias de origen genético, en el cual la alta sospecha de equipos de especialistas clínicos es esencial. Sin el diagnóstico preciso no podemos acceder a un pronóstico a largo plazo, prevención de morbilidad agregada y un consejo genético adecuado, que son requeridos en la pediatría actual.

Abstract: Introduction: Hydrocephalus is defined as complex conditions influenced by genetic and environmental factors. Excluding hydrocephalus acquired from infection or brain tumors, congenital hydrocephalus with a genetic cause may occur isolated (hydrocephalus isolated, pure or non-syndromatic) or as a component of a genetic syndrome (syndromic hydrocephalus). Objective: To present a syndromic congenital hydrocephalus with a known diagnosis, in order to be considered in the study of this pathology and to perform a review of hydrocephaly with a genetic cause. Clinical case: Preschool with a prenatal diagnosis of hydrocephalus and rhombencephalosynapsis, karyotype and study of TORCH was normal. At the moment of birth, the prenatal diagnoses were confirmed and a malformation of cerebral cortical development was excluded. During the first week of life, perito neal ventricle shunt was performed. A reevaluation at age 4, the absence of corneal reflexes bilate ral parietal and congenital focal alopecia associated with rhombencephalosynapsis, meet definitive criteria for cerebello-trigeminal-dermal displasia or Gómez-López-Hernández syndrome (GLHS). Conclusions: GLHS is an uncommon neurocutaneous syndrome, possibly a sporadic condition that is underdiagnosed. Due to the new imaging and genetic technologies pre and post-natal, today it is possible to achieve a better and more accurate diagnosis of hydrocephalus with a genetic origin, in which the high suspicion of teams of clinical specialists is essential. Without accurate diagnosis, we can not access to a long-term prognosis, prevention of aggregate morbidity or an adequate genetic counseling, which are required in today's pediatrics.

Agenesia sacra asociada a disrrafismo espinal e hidrocefalia / Sacra agenesia associated to spinal dysraphism and hydrocephaly

Introducción: la agenesia sacra es una malformación congénita rara que forma parte del síndrome de regresión caudal. Se caracteriza por un grupo de anomalías en las cuales la columna caudal está ausente. Esta enfermedad es la malformación más frecuente en los hijos de madres diabéticas, además se ha relacionado con otros factores predisponentes, como deficiencias de ácido fólico, de vitaminas, uso de insulina en el embarazo, e incluso, la hipoxia. Entre un 30-40 por ciento de pacientes con agenesia sacra completa, pueden tener asociado un mielomeningocele, y el desplazamiento de las raíces nerviosas empeora los trastornos neurológicos. En estos casos, la hidrocefalia, muchas veces también asociada a malformación Chiari tipo II, está ya presente al nacer. Caso clínico: se presenta el caso de un neonato con agenesia sacra asociada a disrrafismo espinal e hidrocefalia. La intervención quirúrgica fue precoz, se le colocó derivación ventrículo peritoneal y se realizó la reparación del defecto del tubo neural. La evolución posoperatoria fue favorable, aunque persistieron los déficits neurológicos preoperatorios. Conclusiones: no se hallaron factores predisponentes en este paciente y el análisis del cariotipo fue normal. Las anomalías óseas de miembros inferiores fueron las más llamativas, así como la presencia de hidrocefalia asociada a malformación Chiari tipo II y mielomeningocele. El tratamiento a estos casos requiere de un enfoque multidisciplinar, y la reparación quirúrgica del mielomeningocele debe ser precoz para conseguir una evolución favorable. Las formas graves pueden ocasionar una muerte temprana neonatal, en cambio, los niños que sobreviven, generalmente presentan inteligencia normal

Introduction: sacra agenesia is a rare congenital malformation as part of the caudal regression syndrome. It is characterized by a group of anomalies in which the caudal cord is absent. This disease is the most common malformation found in children from diabetic mothers but it has also been related to other predisposing factors such as folic acid deficiencies, vitamin deficiencies, use of insulin at pregnancy and even hypoxia. Thirty to forty percent of patients with complete sacra agenesia can also have myelomeningocele, and the displacement of nerve roots worsens the neurological disorders. In these cases, hydrocephaly, many times associated to Chiari malformation type II, is also present at birth. Clinical case: a neonate with sacra agenesia associated to spinal dysraphism and hydrocephaly. Surgical intervention was performed early, a peritoneal ventricular derivation was placed and the neural tube defect was repaired. The post-surgery evolution was favorable, but the preoperative neurological deficits persisted. Conclusions: there were no predisposing factors in this patient and the analysis of the cariotype was normal. The bone anomalies of the lower members were the most remarkable aspects as well as the hydrocephaly associated to Chiari malformation type II and myelomeningocele. The treatment of these cases requires multidisciplinary approach and surgical repair of the myelomeningocele at early phase to achieve favorable evolution. The most severe forms can cause early neonatal death; however, those surviving children generally present normal intelligence coefficient

Demographic and clinical presentations of pediatric hydrocephalus in medical city

Hydrocephalus is distension of the ventricular system of the brain related to inadequate passage of cerebrospinal fluid from its points of production within the ventricular system to its points of absorption into the systemic circulation. To study the demographic and clinical presentations of pediatric hydrocephalus in medical city complex, Baghdad. This is a prospective study ,which was carried out on 100 children with a mean age +/- standard deviation [24.3 +/- 16.06]months and median 16 months, who were admitted to Children Welfare Teaching Hospital and neurosurgical department [Surgical Specialties Hospital] / Medical City complex, Baghdad in the period from April first 2009 to October first 2009. A specially designed questionnaires were used to aid the investigators in performing a family interview. General and neurological examinations, and investigations including neuroimaging studies were done. Of 100 patients,[62%]were males and [38%] were females, with male to female ratio of 1.6:1. Family history of congenital anomaly was positive in [26%] of patients, while hydrocephalus was positive in [14%]. Seventy-Two percent of patients had congenital hydrocephalus. Eighty-Seven percent of patients were full term. Fifty-Seven percent of patients were products of NVD ,while [43%] were products of CS,[2%] of them were emergency CS and [41%] were elective. The macrocephaly was diagnosed or noted at birth in [32%] of patients. The study showed that U/S finding of hydrocephalus was positive in [49%]. The majority of the patients had congenital hydrocephalus, but there was delay in the diagnosis of macrocephaly. Prenatal ultrasound diagnosis yield was low in this study. Family history of hydrocephalus and other neural tube defect was important to be elicited

Congenital Hydrocephalus in Mono and Dizygotic Twins

Background: Information regarding the occurrence of hydrocephalus (HC) in twins is important in establishing the significance of environmental factors as well as a genetic basis in congenital HC aetiology. This was the basis for this study. Methods: A single institution retrospective study was conducted between August 1; 2006 and July 31; 2008. Only those cases of hydrocephalus (based on clinical and radiological testscranial Computeried tomographic or Magnetic resonance imaging scan) that required placement of a ventricular shunt or endoscopic third ventriculostomy were included in the study. Data regarding the patient's demographics; clinical history; examination and the maternal demographics were retrieved and analysed. DNA analysis was done to confirm the fraternity of the twins when applicable. Results: Fifty-eight patients with congenital hydrocephalus presented to the unit over the study period. We identified three sets of twins in the study. Only one set were identical (both male) and both had hydrocephalus. In the remaining two sets only one out of each pair had hydrocephalus (one male and one female). Two of the patients (1male; 1female) were twins with discordant HC. All the children had normal thumbs. DNA analysis confirmed identical twins in both the like sex twins. The mothers were not known diabetics; hypertensive or sickle cell patients neither did they smoke or take alcohol. There was no family history of hydrocephalus in all patients. Conclusion: Concordance for HC is likely if the twins are like sex and identical. Congenital hydrocephalus seems to be a multifactorial disorder; triggered by environmental factors in genetically predisposed individuals

Congenital hydrocephalus

Hydrocephalus results from an imbalance between the production and absorption of cerebrospinal fluid It is a common major malformation with a multifactorial aetiology. Arnold-Chiari hindbrain deformity and aqueductal stenosis are frequent underlying problems leading to congenital hydrocephalus. It is associated with deleterious long-term effects and high recurrence risk. Prompt diagnosis, adequate treatment and proper genetic counselling remain the key to successful management of this problem in children

Tabicamiento ventricualr en hidrocefalia / Ventricular septations in hydrocephalus

La formación del septum o tabiques en los ventriculos cerebrales suele presentarse en las meningoventriculitis tanto atriales como peritoneales. Se presentan 6 casos con estudios de tomografía computarizada (T.C.)