Complicaciones en la hemorragia intraventricular del recién nacido, a propósito de un caso / Complications in the intraventricular hemorrhage of the newborn, a propos of a case

RESUMEN La hemorragia interventricular es una complicación frecuente en el recién nacido prematuro. Se presentó el caso con el objetivo de describir las complicaciones en la hemorragia intraventricular en el recién nacido. Se trató de una recién nacida, producto de un embarazo de 30 semanas de gestación, con peso al nacer de 1 600 g. Desarrolló una hemorragia intraventricular e hidrocefalia que requirió diferentes intervenciones neuroquirúrgicas y desarrolló complicaciones sépticas graves. La ventriculitis y los abscesos cerebrales fueron las complicaciones más peligrosas. Se realizaron lavados ventriculares. Se utilizó antibióticos intraventriculares y también antibioticoterapia sistémica, cambios frecuentes de catéter de derivación al exterior y permanencia de una derivación ventricular externa por 102 días. Después de seis meses de evolución, de más de veinte intervenciones quirúrgicas, y de haber sufrido severas complicaciones sépticas, se logró realizar la derivación ventrículo-peritoneal definitiva, lográndose su egreso. Al año de vida, la paciente mantiene un desarrollo psicomotor adecuado (AU).

ABSTRACT The interventricular hemorrhage is a frequent complication in the premature newborn baby. The case was presente with the aim of describing the complications of intraventricular hemorrhage in the newborn baby. It dealed with a female newborn baby, product of a 30 weeks pregnancy, with weight at birth of 1 600 g. She developed intraventricular hemorrhage and hydrocephalus that required different neurosurgical interventions and developed serious septic complications. Ventriculitis and brain abscesses were the most dangerous complications. Ventricular lavages were performed. Intraventricular antibiotics were used as well as systemic antibiotic therapy, frequent changes of bypass catheter to the exterior and permanence of an external ventricular bypass for 102 days. And permanence of an external ventricular shunt for 102 days. After six months of evolution, more than twenty surgical interventions, and having suffered severe septic complications, it was possible to perform the definitive ventricular-peritoneal bypass, achieving her discharge. At a year of life, the patient maintains adequate psychomotor development (AU).

Malformación de Dandy-Walker asociada a malformaciones extracraneales en un neonato / Dandy-Walker malformation associated with extracranial abnormalities in a newborn

La hidrocefalia es una condición clínica que consiste en un cúmulo de líquido cefalorraquídeo a nivel encefálico. Una de las causas, poco frecuente, es el síndrome de Dandy-Walker. Se presenta el caso de un recién nacido con diagnóstico prenatal de hidrocefalia secundaria a una malformación de Dandy-Walker y sospecha de genitales ambiguos. Tras el nacimiento, se confirma el diagnóstico prenatal de malformación de Dandy-Walker asociado a manifestaciones extracraneales poco frecuentes como hipospadias interescrotal y dilatación del seno coronario secundario a persistencia de la vena cava superior izquierda. Con este caso clínico queremos exponer la complejidad del síndrome de Dandy-Walker debido a sus múltiples asociaciones, que marcarán el pronóstico del paciente y la necesidad de tratamiento multidisciplinar.

Hydrocephalus is a clinical condition that consists of an accumulation of cerebrospinal fluid around the brain; Dandy-Walker syndrome is a rare cause of it. We present the case of a newborn with prenatal diagnose of hydrocephalus due to a Dandy-Walker malformation, as well as ambiguous genitalia. After birth, diagnosis of Dandy-Walker malformation associated with uncommon extracranial manifestations is confirmed. Specifically, the baby presents interscrotal hypospadias and coronary sinus dilatation due to the persistence of the left superior vena cava. With the exposition of this case, we bring out the complexity of the Dandy-Walker syndrome due to the malformations associated with it; the ones that will determine the prognosis and the need of a multidisciplinary treatment

Normal pressure hydrocephalus: Diagnostic delay / Hidrocefalia de presión normal: demora en el diagnóstico

Abstract. Introduction: Normotensive hydrocephalus is a differential diagnosis in the evaluation of the dementia syndrome. The diagnostic protocols would allow detecting this pathology that has more effective treatment than other dementias. Objective: To describe a population with clinical suspicion of normal pressure hydrocephalus evaluated in a Colombian psychiatric hospital and discuss the possible reasons for its diagnostic and therapeutic delay. Materials and methods: We conducted a retrospective study of medical records to identify patients with suspected normal pressure hydrocephalus during a 5-year period. Results: Thirty-five patients with suspected normal pressure hydrocephalus underwent diagnostic lumbar puncture and five of them were considered candidates for a peritoneal-venous shunt, but none underwent this surgical procedure. After three to six months of the lumbar puncture, the gait pattern improved in 22.8% of the patients, cognition in 22.8%, and sphincter control in 11.4%. Improvement was not sustained in the long term (1 year) in any of them. Conclusion: This study suggests the poor implementation of the protocols for evaluating patients with cognitive deficits and delays in the diagnosis of normal pressure hydrocephalus. A small number of patients were identified as candidates for treatment. Normal pressure hydrocephalus is a potentially reversible clinical entity with the placement of a peritoneal ventricular shunt, but delays in diagnosis and treatment have deleterious consequences for patients and their families.

Resumen. Introducción. La hidrocefalia normotensiva es un diagnóstico diferencial en la evaluación del síndrome demencial. Los protocolos diagnósticos permitirían detectar esta condición, cuyo tratamiento es más efectivo que el de otras demencias. Objetivo. Describir una población con sospecha clínica de hidrocefalia normotensiva evaluada en un hospital psiquiátrico colombiano y discutir las posibles razones de la demora en el diagnóstico y en la terapia de esta condición clínica. Materiales y métodos. Se hizo un estudio retrospectivo de los registros médicos para detectar pacientes con sospecha de hidrocefalia normotensiva durante un período de cinco años. Resultados. A 35 pacientes con sospecha de hidrocefalia normotensiva se les hizo una punción lumbar diagnóstica. Cinco de ellos se consideraron candidatos para una derivación ventrículo-peritoneal, pero ninguno se sometió a este procedimiento quirúrgico. A los 3-6 meses de la punción lumbar, se observó una mejoría del patrón de la marcha en el 22,8 % de los pacientes, de la cognición en el 22,8 % y del control del esfínter en el 11,4 %. La mejoría no se mantuvo a largo plazo (un año) en ningún paciente. Conclusión. Se encontró una implementación deficiente de los protocolos de evaluación de los pacientes con déficit cognitivos y demoras en el diagnóstico de la hidrocefalia normotensiva, así como un número reducido de pacientes clasificados como candidatos para el tratamiento. La hidrocefalia normotensiva es una condición clínica potencialmente reversible con la colocación de una derivación ventrículo-peritoneal. Los retrasos en el diagnóstico y en el tratamiento tienen consecuencias perjudiciales para los pacientes y sus familias.

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).

Síndrome de Guillain Barré e hidrocefalia en un lactante con Síndrome de Wiskott Aldrich / Guillain-Barré Syndrome and Hydrocephalus in an infant with Wiskott-Aldrich Syndrome

Resumen: Introducción: El Síndrome de Guillain-Barré (SGB) es raramente diagnosticado en lactantes menores de 1 año. Su asociación con el Síndrome de Wiskott Aldrich (SWA), es aún menos frecuente, y ha sido previa mente reportada sólo en dos pacientes a nuestro conocimiento. La hidrocefalia, es una complicación conocida, pero infrecuente del SGB. Objetivo: presentar el caso clínico de un lactante en el que se asocian las patologías de SGB, SWA e hidrocefalia. Caso Clínico: varon de 9 meses, portador de SWA hospitalizado en unidad de cuidados intensivos por hipotonía aguda y compromiso del estado gene ral. Evolucionó con parálisis fláccida, falla ventilatoria y arreflexia generalizada. Una punción lumbar mostró disociación albuminocitológica, y el estudio electrofisiológico mostró signos de polineuropatía desmielinizante severa. Se trató con inmunoglobulina, evolucionando en forma satisfactoria. Por bradicardia intermitente, se realizó tomografla axial computada cerebral (TAC), que mostró signos de una hidrocefalia aguda, manejada mediante válvula derivativa ventrículo peritoneal con favorable respuesta. En el largo plazo, se sometió a trasplante de médula ósea y debió ser reintervenido por complicaciones valvulares, sin embargo, su desarrollo psicomotor es normal sin secuelas neurológi cas evidentes hasta los 3 años. Conclusión: Presentamos el tercer caso de SGB en un paciente porta dor de SWA, destacando ser el primero de ellos en un lactante menor de 1 año. Adicionalmente, este niño presentó una hidrocefalia aguda como complicación del SGB. Consideramos relevante tener presente estas comorbilidades, debido a que su pronto diagnóstico y manejo oportuno, permiten una mejor recuperación neurológica y evitan complicaciones potencialmente letales.

Abstract: Introduction: Guillain-Barre Syndrome (GBS) is rarely diagnosed in the first year of life. The association of GBS with Wiskott-Aldrich syndrome (WAS) is even less frequent and has been previously reported in only two children to our knowledge. Hydrocephalus is a known but rare complication of GBS. Objective: To describe the case of an infant in which GBS, WAS and hydrocephalus appear clinically associated. Clinical Case: A nine-months-old male infant with a history of WAS was admitted to our ICU with acute hypotonia and poor general condition. He developed flaccid paralysis, absent deep tendon reflexes, and respiratory failure. A lumbar puncture showed albuminocytologic dissociation. GBS was suspected and an electromyography was performed, showing a demyelinating polyneuropathy. He was successfully treated with intravenous immunoglobulins. During hospitalization, he presented intermittent bradycardia, so a brain CT scan was performed, showing acute hydrocephalus which was managed through an external ventricular drain achieving favorable response. In the long term, the patient underwent bone marrow transplant and had to be reoperated due to valve-related complications. However, his psychomotor development is normal, with no obvious neurological sequelae. Conclusion: We present the third case of GBS in a patient with WAS, which is the first infant younger than one year. Additionally, he presented acute hydrocephalus as a complication of GBS. We suggest considering these three comorbidities since their early diagnosis and prompt management allow bet ter neurological recovery and avoid potentially lethal complications.

Hidrocefalia canina ­ relato de caso / Canine hydrocephalus ­ case report / Hidrocefalia canina ­ relato de caso

Hidrocefalia é o acúmulo de líquido cefalorraquidiano de origens diversas. Tal acúmulo gera aumento da pressão intracraniana e pode causar compressão e danos a tecidos neurológicos. Estes danos são a causa dos sinais clínicos associados a esta afecção. O presente artigo relata um caso de hidrocefalia em uma fêmea canina da raça Shih Tzu de 45 dias de idade. O animal apresentava alterações comportamentais, vocalização excessiva, incoordenação motora, aumento de volume craniano, oligodpsia entre outros. A cadela foi diagnosticada com hidrocefalia por meio de exames de imagem. Foi instituída terapia medicamentosa com acetazolamida e furosemida para controle paliativo da afecção. Ocorreu melhora do quadro clínico após o início da terapêutica e o animal, apresentou sobrevida de aproximadamente um ano.(AU)

Hydrocephalus is the accumulation of cerebrospinal fluid in the brain coming from diverse origins. Such accumulation generates an increase in intracranial pressure and may cause compression and damage to neurological tissues. These damages are the cause of the onset of clinical signs associated with the condition. This study reports a case of hydrocephalus in a 45-day-old Shi Tzu female dog. The animal presented behavioral alterations, excessive vocalization, motor incoordination, cranial volume increase, polydipsia, among other clinical signals. Imaging tests were used for diagnosing it with hydrocephalus. Drug therapy with acetazolamide and furosemide was introduced for palliative control of the condition. The clinical scenario improved after the initiation of therapy and the animal presented a survival of approximately one year.(AU)

Hidrocefalia es el acúmulo de líquido cefalorraquídeo de diversos orígenes. Dicha acumulación genera un aumento en la presión intracraneal y puede causar compresión y daños a los tejidos neurológicos. Estos daños son la causa de los signos clínicos asociados a esta afección. El presente artículo informa sobre un caso de hidrocefalia en una hembra canina de la raza Shih Tzu de 45 días de edad. El animal presentaba alteraciones de comportamiento, vocalización excesiva, falta de coordinación motora, aumento del volumen craneal, oligodipsia entre otros. La perra fue diagnosticada con hidrocefalia por pruebas de imágenes. Se instituyó medicamentos con acetazolamida y furosemida para control paliativo de la enfermedad. El cuadro clínico mejoró después del inicio de la terapia y el animal presentó sobrevida de aproximadamente un año.(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.

Hidrocefalia congênita bilateral total em felino: relato de caso / Total Congenital Bilateral Hydrocephalus in Feline: case report

O objetivo deste trabalho foi relatar um caso raro de hidrocefalia em um felino doméstico, da raça Persa, de 30 dias de idade. O animal foi atendido com histórico de impossibilidade de manter-se em estação, incoordenação motora, inabilidade para se alimentar sozinho e sustentar o peso da cabeça. No exame clínico, foi observada presença de fontanela aberta, aumento de calota craniana, ataxia, estrabismo unilateral e secreção ocular. A realização de ultrassonografia do crânio levou à confirmação do diagnóstico de hidrocefalia. O paciente permaneceu internado, sendo o protocolo de tratamento empregado constituído de corticosteroide, diurético e protetor gástrico em alta dose, além de alimentação por via oral e fluidoterapia. O animal veio a óbito após 24 horas, sendo encaminhado para realização de necropsia.(AU)

The objective of this work was to report a rare case of hydrocephalus in a domestic Persian feline, 30 days old. The animal was attended with a history of inability to keep in season, incoordination of the motor, inability to feed itself and support the weight of the head. In the clinical examination, the presence of an open fontanelle, an increase in the skull cap, ataxia, unilateral strabismus and ocular secretion were observed. The ultrasound examination of the skull led to confirmation of the diagnosis of hydrocephalus. The patient remained hospitalized, and the treatment protocol consisted of a corticosteroid, diuretic and gastric protector in high dose, besides oral feeding and fluid therapy. The animal died after 24 hours, being referred for necropsy.(AU)

Congenital hydrocephalus in Arar, Northern Saudi Arabia

Background: Congenital hydrocephalus, an important cause of neurologic morbidity and mortality in children, is a medical condition characterized by an abnormal accumulation of cerebrospinal fluid in the brain

Objectives: To estimate the prevalence and the recent progresses in diagnosis of hydrocephalus as well as the changes in epidemiology and treatment outcomes of the disease

Methods: This is a descriptive study involved all neonates born in Maternity and child hospital in Arar city, Northern Saudi Arabia, KSA, during the period from 1 January to 31 December 2017. Among 6000 delivered infant in 2017; there was 23 cases of hydrocephalus. Data was collected by using predesigned questionnaire which include questions designed to fulfill the study objectives

Results: the prevalence of hydrocephalus among studied infants was 0.38%. Consanguinity between parents was reported among 60.9% of the cases. Other congenital anomalies reported, cardiac anomalies 39.1%, spina bifida 17.4% and cleft palate 8.7%. Cause of hydrocephalus was 65.2% hereditary and 34.8% infection [secondary cause]. Swelling of the eyelid, increased vascular clarity on the skull, transparent skin in the head, the child's tendency to sleep, disorientation, irritability and nervousness, high crying, weakness of feeding and vomiting, delayed child skills, convulsions, increased size of the head, the sun's sign in the eye and the child is always looking down were the symptoms reported by the cases. 56.5% of the cases had shunt insertion and 43.4% had ordinary medical treatment. 30.4% of the shunt cases were complicated [17.4% had shunt blockage with infection and fever, 13% shunt blockage and 69.6% had other complications]. Outcome of the case; 39.1% were stable, 13% worsen and 47.8% died [34.7% died by complications, 8.7% during operation and 4.3% did not receive treatment]

Conclusion: The prevalence of hydrocephalus is comparable to that of other countries. More research is recommended because it is probable that the real prevalence of congenital hydrocephalus was underestimated and no account of how often abortions are performed among mothers of hydrocephalic fetuses. So more efforts from the ministry of health is needed

Histoplasmosis del sistema nervioso central en un paciente inmunocompetente / Histoplasmosis of the central nervous system in an immunocompetent patient

La histoplasmosis es una afección polifacética producida por el hongo dimorfo Histoplasma capsulatum , cuyas esporas son inhaladas y llegan al pulmón, órgano primario de infección. La forma meníngea, considerada como una de las manifestaciones más graves de esta micosis, suele presentarse en individuos con alteraciones en la inmunidad celular: pacientes con síndrome de inmunodeficiencia humana adquirida, con lupus eritematoso sistémico o con trasplante de órgano sólido, así como en lactantes, debido a su inmadurez inmunológica. La forma de presentación más usual es de resolución espontánea y se observa en individuos inmunocompetentes que se han expuesto a altas concentraciones de conidias y fragmentos miceliares del hongo. En estas personas, la afección se manifiesta por trastornos pulmonares y por la posterior diseminación a otros órganos y sistemas. Se presenta un caso de histoplasmosis del sistema nervioso central en un niño inmunocompetente.

Histoplasmosis is a multifaceted condition caused by the dimorphic fungi Histoplasma capsulatum whose infective spores are inhaled and reach the lungs, the primary organ of infection. The meningeal form, considered one of the most serious manifestations of this mycosis, is usually seen in individuals with impaired cellular immunity such as patients with acquired immunodeficiency syndrome, systemic lupus erythematous or solid organ transplantation, and infants given their immunological immaturity. The most common presentation is self-limited and occurs in immunocompetent individuals who have been exposed to high concentrations of conidia and mycelia fragments of the fungi. In those people, the condition is manifested by pulmonary disorders and late dissemination to other organs and systems. We report a case of central nervous system histoplasmosis in an immunocompetent child.

Anomalías inusuales del arco branquial, dermoepidérmicas y del sistema nervioso en un neonato con el síndrome VACTERL-H / Unusual branchial arch, dermoepidermal and nervous system anomalies in a neonate with VACTERL-H syndrome

El síndrome VACTERL-H es un trastorno complejo de malformaciones congénitas que implica vértebras, ano, corazón, tráquea, esófago, riñones, extremidades (del inglés limbs) e hidrocefalia. Su etiología se ha identificado sólo en algunos pacientes debido, en gran medida, a su naturaleza esporádica, así como a su alto grado de heterogeneidad clínica. En este informe se presenta a un neonato con el síndrome VACTERL-H, al que se asocian anomalías inusuales del arco branquial, dermoepidérmicas y del sistema nervioso, que se comparan con las descritas en la bibliografía médica. Según nuestra experiencia, esta presentación no sólo amplía el conocimiento del espectro de anomalías que se puede presentar en el síndrome VACTERL-H, sino que también podría ser útil en la identificación de pacientes con este fenotipo heterogéneo.

VACTERL-H syndrome is a complex disorder of congenital malformations that implies vertebrae, anus, heart, trachea, esophagus, kidneys, limbs and hydrocephalus. Its etiology has been identified in a fraction of patients largely due to their sporadic nature and its high degree of clinical heterogeneity. This report presents a newborn with VACTERL-H syndrome, associated with unusual branchial arch, dermoepidermal and nervous system anomalies, which are compared with those described in the medical literature. Based on our experience, the presentation of this case not only expands the knowledge of the spectrum of anomalies that can occur in VACTERL-H syndrome, but also can be useful in identifying patients with this heterogeneous phenotype.

Fenômeno ocular do sol poente em hidrocefalia. Apresentação de casos e revisão da literatura / Setting-sun ocular phenomenon in hydrocephalus. Case reporter of the literature

Introdução: O fenômeno do olho do "sol poente" é um sinal oftalmológico em que os olhos se apresentam dirigidos para baixo, deixando a esclera bem visível, entre a pálpebra superior e a íris, geralmente está associado com hipertensão intracraniana e hidrocefalia na infância. Entretanto, pode ser decorrente de patologias benignas, representadas pela imaturidade dos sistemas de controle reflexo dos movimentos oculares. Pacientes e métodos: Trabalho retrospectivo e descritivo. Foram estudadas 25 crianças de ambos os gêneros, portadoras de hidrocefalia, que foram diagnosticadas através de exames de neuroimagem e tratamento cirúrgico. Resultados: O gênero masculino esteve presente em 16 casos e o feminino em 9 casos. As causas de hidrocefalia foram: estenose do aqueduto de Silvius 14 casos, pós-mielomeningocele lombossacra 8 casos e toxoplasmose congênita 3 casos. Todos foram submetidos a exame de tomografia computadorizada e seis a ressonância magnética. Dos pacientes, 12 apresentavam o fenômeno do ?sol poente?. Todos foram submetidos à derivação ventriculoperitoneal. Houve reintervenção cirúrgica em sete casos; dois pacientes foram a óbito. Conclusão: O fenômeno do ?sol poente? é um sinal de alerta que indica lesão cerebral grave subjacente. A patogênese deste sinal não está bem esclarecida; acredita-se estar relacionado à distensão do aqueduto cerebral, com compressão de estruturas periaquedutais, secundária ao aumento da pressão intracraniana. Pode estar associado com hidrocefalia e disfunção do sistema de derivação ventriculoperitoneal. O diagnóstico precoce, com a realização de exames de neuroimagem, proporciona uma intervenção cirúrgica imediata e evita complicações neurológicas graves.

Oral Cavity — A Window to Systemic Illness.

Oral cavity very often has been described as reflection of our body as most of the initial clinical symptoms occur in oral cavity. The current paper also focuses on the oral presentation of the systemic condition called Pyknodysostosis (MIM 265800) which is a rare, autosomal recessive skeletal dysplasia characterized by short stature, wide cranial sutures, and increased bone density and fragility was first described in 1962 by Maroteaux and Lamy under the heading of diastrophic dwarfism.

Transtorno de aprendizagem e alteração cognitiva secundária a hidrocefalia por estenose do aqueduto de Sylvius: relato de caso / Learning disorder and cognitive impairment secondary to hydrocephalus due to stenosis of aqueduct of Sylvius: case report

JUSTIFICATIVA E OBJETIVOS: A estenose do aqueduto de Sylvius é responsável por um terço dos casos congênitos de hidrocefalia.A hipertensão intracraniana com consequente dilatação ventricular pode comprometer o desenvolvimento neuropsicomotor. Em crianças em idade escolar com alterações cognitivas ou comportamentais de início recente, sem causa aparente, este é um diagnóstico a ser pensado. Exames de imagem são fundamentais para a confirmação diagnóstica. Com tratamento adequado é esperada evolução favorável. O objetivo deste estudo foi relatar um caso de hidrocefalia por estenose do aqueduto de Sylvius como causa de transtorno de aprendizagem e alteração cognitiva e discutir seus aspectos clínicos, evolutivos e terapêuticos, ressaltando a importância da avaliação criteriosa de alterações neuropsiquiátricas em crianças em idade escolar. RELATO DO CASO: Paciente do sexo masculino, 10 anos, apresentando quadro progressivo de baixo rendimento escolar, déficit de concentração e compreensão, apatia e isolamento social há cinco meses. Após o diagnóstico de hidrocefalia por estenose do aqueduto de Sylvius foi submetido à cirurgia para derivação liquórica ventrículo peritoneal, evoluindo com melhora progressiva. CONCLUSÃO: Os efeitos da hidrocefalia em crianças podem comprometer o desenvolvimento cerebral, portanto, o diagnóstico precoce, a fim de instituir a terapêutica adequada, são essências para a reabilitação neuropsicomotora nesses pacientes.

BACKGROUND AND OBJECTIVES: Sylvius aqueduct stenosis accounts for one third of congenial hydrocephalus cases. Intracranial hypertension with subsequent ventricular dilatation may impair neuro-psychomotor development. In school-aged children with cognitive and/or behavioral alterations of recent onset, without apparent cause, this is a diagnosis to be considered. Imaging tests are of crucial importance for diagnostic confirmation. Favorable outcomes are expected with an effective treatment. The aim of this study was to report a case of hydrocephalus due to Sylvius aqueduct stenosis as a cause of learning disorders and cognitive impairment and to discuss its clinical, evolutionary and therapeutic aspects, emphasizing the importance of a careful assessment of neuropsychiatric alterations in school-aged children. CASE REPORT: A 10-year-old male patient that presented progressive history of poor academic performance, deficits of concentration and comprehension, apathy and social isolation for five months. The diagnosis was hydrocephalus due to Sylvius aqueduct stenosis; the patient underwent ventriculoperitoneal shunting surgery and there was significant improvement. CONCLUSION: The effects of hydrocephalus in children can impair brain development; therefore, early diagnosis to institute appropriate therapy is essential for neuro-psychomotor rehabilitationin these patients.

Estenosis acueductal en acondroplasia: a propósito de un caso / Aqueductal stenosis in achondroplasia: report of a case

Achondroplasia is the most frequent cause of disproportionate short stature. Characterized by abnormal growth of long bones, it renders a short-limbed individual of normal intelligence. A serious potential complication is spinal compression, which can happen at any level but is particularly common at the craniocervical junction. It can cause important morbility during the first few years of life, including sudden death. We present a 22-month-old patient diagnosed with achondroplasia, who developed aqueductal stenosis with symptomatic spinal cord compression, diagnosed during a routine consultation, requiring decompressive surgery with excellent results.

La acondroplasia es la condición asociada a talla baja desproporcionada más frecuente, caracterizada por un crecimiento óseo anormal, que resulta en talla baja con extremidades cortas e inteligencia normal. Una de las complicaciones más habituales es la compresión medular, que puede ocurrir a cualquier nivel, siendo más frecuente en la unión cráneo cervical, generando alta morbimortalidad en los primeros años de vida, principalmente por muerte súbita. Presentamos una paciente de 1 año 10 meses con diagnóstico precoz de acondroplasia, que presentó en su evolución estenosis acueductal con compresión medular, sintomática, pesquisada en control rutinario, que requirió cirugía descompresiva con buena evolución posterior.

Síndrome de Walker-Warburg / Walker-Warburg syndrome

A síndrome de Walker-Warburg (SWW) é uma doença autossômica recessiva rara, caracterizada por distrofia muscular congênita e associada a malformações cerebrais e oculares. Pode ser suspeitada ainda no pré-natal e o diagnóstico é firmado ao nascimento através de alterações clínicas e patológicas. O objetivo deste trabalho é relatar o caso de uma paciente com 3 meses de vida portadora de SWW. A SWW é uma síndrome severa e letal, diagnosticada através de quatro critérios: distrofia muscular congênita, anormalidades oculares, lissencefalia tipo II e malformação cerebelar. Seu tratamento visa apenas ao suporte e à prevenção de complicações. Pacientes com esta doença geralmente vão a óbito ainda no primeiro ano de vida

The Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy and associated with cerebral and ocular malformations. It may be suspected even in the prenatal period and the diagnosis is made at birth through clinical and pathological characteristics. The aim of this study is to report the case of a 3-month-old with WWS. The WWS is a severe and lethal syndrome that is diagnosed by four criteria: congenital muscular dystrophy, ocular abnormalities, type II lissencephaly, and cerebellar malformation. Its treatment is only supportive and intended to prevent complications. Patients with this disease usually will die within the first year of life

Hidrocefalia unilateral: caso clínico y revisión de la literatura / Unilateral hydrocephalus: clinical case and literature review

La hidrocefalia congénita unilateral es una malformación extremadamente infrecuente (1 por 1.411 embarazos) y rara vez detectada en el período prenatal. Se considera una entidad distinta a la hidrocefalia bilateral, en cuanto a morbilidad, mortalidad y pronóstico perinatal. En la hidrocefalia unilateral se reporta una sobrevida elevada y un resultado neurológico favorable cuando el grado de dilatación es leve, estable en el tiempo y no asociada a otras malformaciones. El diagnóstico prenatal se realiza mediante ecografía y resonancia magnética y es confirmado al nacimiento con ecografía, tomografía axial computada o resonancia magnética. No existen actualmente pautas estandarizadas para su manejo y seguimiento a largo plazo. Se presenta a continuación un caso clínico de diagnóstico antenatal de hidrocefalia congénita unilateral y la revisión de la literatura.

Congenital unilateral hydrocephalus is an extremely rare malformation (1 per 1,411 pregnancies), rarely detected in the prenatal period. It is considered a different entity than bilateral hydrocephalus, in terms of morbidity, mortality and perinatal outcome. Unilateral hydrocephalus has a high survival rate and favorable neurological outcome when dilatation is mild, stable over time and when not associated with other malformations. Prenatal diagnosis is performed by ultrasound and magnetic resonance imaging and confirmed at birth with ultrasound, CT sean or MRI. Not currently standard guidelines are available for management and long-term monitoring. We present a case report of antenatal diagnosis of congenital unilateral hydrocephalus and literature review.