Coagulación de plexo coroideo como procedimiento aislado en el tratamiento de la hidrocefalia / Choroid plexus coagulation as an isolated procedure in the treatment of hydrocephalus

La coagulación de plexo coroideo (CPC) es un procedimiento que nace del intento histórico de tratar la hidrocefalia. Desarrollado en la primera mitad del siglo XX, pero posteriormente abandonado por su baja tasa de éxito y alta tasa de complicaciones. Con el advenimiento de la neuroendoscopía moderna se adapta la idea de la CPC en un intento de dar cabida a alternativas a la derivación de líquido cefalorraquídeo (LCR) como procedimiento estándar para tratar la hidrocefalia. Actualmente su uso se ha difundido mayormente en conjunto con la tercer ventriculostomía endoscópica como una opción eficaz, más barata y exenta de los riesgos inherentes de una derivación de LCR. No obstante, se ha reportado su éxito como procedimiento aislado en casos seleccionados como en hidrocefalia comunicante lentamente progresiva, hidranencefalia y un posible rol en el tratamiento de la hiperplasia de plexo coroideo. El objetivo de esta revisión es determinar la efectividad de la CPC aislada como tratamiento para la hidrocefalia en diversos escenarios clínicos e identificar las variables asociadas a su éxito.

Choroid plexus coagulation (CPC) is a procedure born of historic attempts to treat hydrocephalus. Developed in the first half of the 20th century, it was later abandoned because of its low success rate and high rate of complications. With the advent of modern neuro-endoscopy the CPC was adapted in an attempt to open the way for alternatives to CSF shunt as the standard procedure for treating hydrocephalus. Its use has spread mainly in conjunction with endoscopic third ventriculostomy as an option which is effective, cheaper and without the risks inherent in a CSF shunt. However, there have been reports of its success as an isolated procedure in selected cases such as chronic progressive communicating hydrocephalus, hydranencephaly and it has a possible role in the treatment of choroid plexus hyperplasia. The objective of this review is to determine the effectiveness of isolated CPC as treatment for hydrocephalus in various clinical setti ngs and identify the variables associated with its success.

Hidranencefalia ­ uma doença rara com diagnóstico ultrassonográfico / Hydranencephaly ­ a rare disese with ultrasonographic diagnosis

Introdução: A hidranencefalia é a forma mais grave de destruição cortical cerebral bilateral cujo diagnóstico diferencial inclui hidrocefalia severa, holoprosencefalia alobar e síndrome de Walker-Warburg. É uma anomalia rara, ocorrendo em menos de 1 a cada 10.000 nascimentos em todo o mundo. Objetivo: Relatar um caso raro de hidranencefalia diagnosticado na ultrassonografia obstétrica com correlação com a ultrassonografia transfontanelar e com a tomograRecebido em: 14/03/2019 fia computadorizada. Materiais e Métodos: Revisão do prontuário, registro fotográfico dos métodos diagnósticos e revisão da literatura. Resultados: Paciente do sexo feminino, 33 anos, com 33 semanas e 05 dias de gestação, referindo perda de líquido amniótico. A ultrassonografia obstétrica apresenta importante alteração do parênquima cerebral substituído por líquido cefalorraquidiano; a foice cerebral está presente. Tais alterações são compatíveis com hidranencefalia. Conclusão: Relatamos um caso raro de hidranencefalia comparando o exame pré-natal diagnóstico ­ ultrassonografia obstétrica ­ com os exames pós-natais ­ ultrassonografia transfontanelar e tomografia computadorizada.

Introduction: Hydranencephaly is the most severe form of bilateral cerebral cortical destruction which the differential diagnosis includes severe hydrocephalus, alobar holoprosencephaly and Walker-Warburg syndrome. It is a rare anomaly, occurring in less than 1 per 10,000 births worldwide. Objective: Report a rare case of hydranencephalia diagnosed by obstetric ultrasonography correlated with transfontanelar ultrasonography and computed tomography scan. Materials and Methods: We carried out a review of medical records, photographic record of diagnostic methods, and review from the literature. Results: We report a 33 years-old female patient, with 33 weeks and 05 day of gestation reffering loss of amniotic fluid. Obstetric ultrasonography shows close destruction of the brain parenchyma replaced by cerebrospinal fluid. The falx cerebri is present. Those features are compatible with hydranencephaly. Conclusion: We report a rare case of hydranencephaly comparing prenatal diagnosis - obstetric ultrasonography - with postnatal exams - transfontanelar ultrasonography and computed tomography.

Tratamiento con desmopresina sublingual en dos lactantes con hidranencefalia y diabetes insípida central / Treatment with sublingual desmopressin in two infants with hydranencephaly and central diabetes insipidus

La diabetes insípida central es una patología infrecuente en pediatría ocasionada por un déficit de vasopresina. Sus manifestaciones clínicas principales son poliuria y polidipsia. Las malformaciones cerebrales son una de las principales causas. La desmopresina es la droga sintética de elección para el tratamiento. Una de las vías de administración es la sublingual y su uso en lactantes es muy limitado. Se describe a dos lactantes con hidranencefalia y diabetes insípida central que fueron tratados satisfactoriamente con desmopresina sublingual.

Central diabetes insipidus is a rare disease in children caused by a deficiency of vasopressin. Its main clinical manifestations are polyuria and polydipsia. Brain malformations are one of the main causes. Desmopressin is the synthetic drug of choice for the treatment. One of the routes of administration is sublingual and its use in infants is very limited. We describe two infants with central diabetes insipidus and hydranencephaly who were successfully treated with sublingual desmopressin.

Hidranencefalia congénita: reporte de un adolescente en el norte de México / Congenital hydranencephaly: report of an adolescent in the north of Mexico

Fundamento: la hidranencefalia es la ausencia total o casi total de los hemisferios cerebrales con persistencia de líquido cefalorraquídeo, que afecta a individuos de todo el mundo sin importar su género u origen étnico. No existe un tratamiento eficaz y curativo y la gran mayoría de los pacientes mueren antes de alcanzar el tercer año de vida, aunque en algunas excepciones pueden llegar a la mayoría de edad, donde se requiere siempre del apoyo multidisciplinario. Objetivo: presentar el caso de un varón adolescente con hidranencefalia congénita. Caso clínico: paciente masculino de 11 años de edad ingresado en el centro a los cinco años referido como holoprosencefalia. Fue obtenido por cesárea a las 38 semanas de gestación por ruptura de membranas con somatometría normal y Apgar de cinco, requirió maniobras de reanimación neonatal avanzada. A los 30 días su perímetro cefálico aumentó a 39 cm, siguió en aumento hasta alcanzar los 54 cm a los 6 meses de edad. No presentó control cefálico ni control del tronco, tampoco fue capaz de realizar bipedestación, ni desarrolló lenguaje ni emisión de sonidos. Una tomografía cerebral realizada a su ingreso al centro reveló islotes de parénquima cerebral con meninges y línea media, lo que correspondió a una hidranencefalia. Se presentó el caso por la baja frecuencia que, los pacientes con hidranencefalia alcanzan la adolescencia. Conclusiones: la hidranencefalia es una enfermedad que suele ser letal, y los casos que logran sobrevivir tienen secuelas neurológicas graves y discapacitantes. Aunque se conocen algunos síndromes genéticos asociados a hidranencefalia, la mayoría de los casos son esporádicos y sin manifestaciones externas al sistema nervioso central. Si bien, la esperanza de que el caso presentado muestre mayores avances en su desarrollo neurológico no es alentadora, las terapias física, ocupacional y pulmonar pueden permitir una mejor calidad de vida.

Background: hydranencephaly is the total or almost total absence of the cerebral hemispheres with persistent cerebrospinal fluid, which affects individuals around the world regardless of gender or ethnicity. There is no effective and curative treatment, and most patients die before reaching the third year of life, although some exceptions can come of age, always requiring multidisciplinary support. Objective: to present the case of an adolescent male with congenital hydranencephaly. Clinical case: a 11-year-old male from 11 who was admitted at the age of 5 referred to as holoprosencephaly. He was born by caesarean section at 38 weeks of gestation due to rupture of membranes with normal somatometry and Apgar 5, requiring advanced neonatal resuscitation maneuvers. At 30 days head circumference increased to 39 cm and was increasing, reaching 54 cm at 6 months of age. The patient has no control head and trunk, and he was not capable of bipedalism, or developed language or sound emission. A brain scan performed on admission revealed brain parenchyma islets and meninges, corresponding to hydranencephaly. The case is presented by the infrequency with which patients reach adolescence. Conclusions: hydranencephaly is a disease that is usually fatal, and cases that survive have severe and disabling neurological sequeles. Although some genetic syndromes associated with hydranencephaly are known, most cases are usually sporadic with no other manifestations. Though the hope that the case presented shows greater progress in their neurological development is not encouraging, physical, occupational and pulmonary therapy may allow better quality of life.

Coagulação endoscópica do plexo coroide no tratamento primário da hidranencefalia e da hidrocefalia extrema / Endoscopic coagulation of the choroid plexus in the primary treatment of extremehydrocephalus and hydranencephaly

Objetivos: Descrever a técnica de coagulação neuroendoscópica do plexo coroide e divulgá-la como opção de tratamento primário da hidranencefalia e da hidrocefalia extrema. Mostrar a casuística de coagulação endoscópica de plexo coroide do Serviço de Neurocirurgia do Hospital da Baleia em BeloHorizonte, MG, Brasil. Métodos: Imagens tomográficas foram avaliadas por um neurocirurgião, sendo selecionadas crianças portadoras de hidranencefalia e hidrocefalia extrema com cavidade ventricular única. Os pacientes foram acompanhados por até três anos no pós-operatório. Resultados: Foram tratadas seis crianças com hidranencefalia e seis com hidrocefalia extrema. Um paciente faleceu na primeira semana de pós-operatório em função de choque hipovolêmico e hipernatremia graves e outro cursou com aumento progressivo do perímetro cefálico e necessidade de derivação ventriculoperitoneal. Um terceiro paciente apresentou óbito tardio não relacionado à cirurgia endoscópica. Os demais apresentaram evolução adequada no pós-operatório. Conclusão: A coagulação endoscópica do plexo coroide mostrou-se alternativa eficaz no tratamento da hidranencefalia e da hidrocefalia extrema.

Objectives: Describing the neuroendoscopic technique for coagulation of the choroid plexus and publicize it as an option for the primary treatment of extreme hydrocephalus and hydranencephaly. Display the series of endoscopic coagulation of the choroid plexus of the Neurosurgery Department of the Hospital da Baleia in Belo Horizonte, MG, Brazil. Methods: Tomographic images were used to select children with hydranencephaly and extreme hydrocephalus with single ventricular cavity. Patients were followed for up to three years postoperatively. Results: Six children with hydranencephaly and six with extreme hydrocephalus were treated. One patient died in the first week postoperatively due to hypovolemic shock and severe hypernatremia and another developed progressive increase in head circumference and the need for ventriculoperitoneal shunt. A third patient had late death unrelated to endoscopic surgery. The others had adequate postoperative evolution. Conclusion: The endoscopiccoagulation of the choroid plexus is an effective alternative in the treatment of extreme hydrocephalus and hydranencephaly

Hidranencefalia como presentación más severa de aplopejía cerebral fetal: a propósito de dos casos

La hidranencefalia es una malformación cerebral infrecuente caracterizada por la ausencia total o parcial de los hemisferios cerebrales, producida por la oclusión de las arterias carótidas en estadios precoces de la gestación, y asociada a múltiples posibles factores causales. Presentamos dos casos con confirmación post natal y la revisión de la literatura.

Hydranencephaly is rare brain malformation characterized by complete or partial absence of the cerebral hemispheres, caused by occlusion of the carotid arteries in early stages of pregnancy, associated with multiple possible causal factors. We present two cases with postnatal confirmation and review of the literature.

Migración intracraneal de derivativa ventrículoperitoneal en paciente con hidranencefalia: reporte de un caso / Intracraneal migration of ventriculoperitoneal shunt in a patient with hydranecephaly: case report

La migración intracraneal de una derivativa ventrículo peritoneal (DVP) es una rara causa de disfunción valvular. Se presenta el caso de un paciente portador de hidranencefalia congénita con DVP desde el mes de vida, quien fue referido a neurocirugía a la edad de dos años y un mes por somnolencia, vómitos y bradicardia. El estudio con TC de encéfalo y radiografía de trayecto valvular revelaron migración intracraneal de su sistema derivativo, por lo que requirió cirugía de urgencia para retiro del sistema y reemplazo valvular. Inmediatamente posterior a la cirugía el paciente tuvo remisión completa de sus síntomas. A continuación se discuten los posibles mecanismos involucrados en su génesis y las medidas para evitar esta complicación

Intracranial migration of ventriculoperitoneal shunt is an extremely rare complication of hydrocephalus surgery. We present the case of a patient with congenital hydranencephaly treated with ventriculoperitoneal shunt installed elsewhere in the first month of life. He was referred to our center when he was 2 years old. The consulting symptoms were somnolency, vomiting and bradycardia. The image study consisted in a brain CT and chest x-ray that revealed the intracranial migration of his ventriculoperitoneal shunt. The patient was operated with the remotion of his shunting system and a complete new ventriculoperitoneal shunt was installed. Inmediately after surgery the patient had a complete remission of his symptoms. We reviewed the case due to the unusual of the complication and we discussed the possible mechanisms involved in its genesis and the measures to avoid it.

Endoscopic Coagulation of Choroid Plexus in Hydranencephaly

Hydranencephaly is a rare congenital disease defined as an absence of cerebral hemispheres with an intact thalamus, brain stem, and cerebellum. Generally, patients with hydranencephaly require cerebro-spinal fluid diversion due to progressive hydrocephalus. An excellent view of the choroid plexus and advancement of the neurosurgical endoscope were possible, leading to easy coagulation of the choroid plexus to balance cerebro-spinal fluid production without the use of a shunt device. We present this rare case and good treatment outcome from endoscopic coagulation of the choroid plexus.

Brain-in-Brain Artifact (BIBA) in a Patient with Hydranencepaly: A Case Report

Hydranencephaly is a condition that is characterized by an absent brain mantle along with the subadjacent white matter, with replacement of the cerebral hemispheres by a thin-walled membranous sac containing CSF. During brain sonograpy in a neonate with hydranencephaly, we have found a brain-in-brain appearance as an unusual sonographic artifact. We report here on this interesting sonographic artifact in a neonate with hydranencephaly, and this artifact was due to multipath reflection artifact of the ultrasound beam/wave, and we explain the underlying physics.

A Case of Preterm Newborn with Hydranencephaly, from an Adolescent, Unmarried Woman who had No Antenatal Care / 대한주산의학회잡지

Hydranencephaly is a term used to describe a group of brain malformations in regard to developing any brain remnants. With most of the cerebral cortex absent, the cerebral hemispheres are replaced by cerebrospinal fluid (CSF), covered with leptomeninges and dura. Hydranencephaly is a rare isolated abnormality occurring in less than 1 per 10,000 births. With the cutting edged sonography, most of the hydranencephalies are screened in antenatal care. Therefore, it is very rare to observe a living preterm with hydranencephaly. From a history of a young, 19-year-old pregnant woman who did not look for the antenatal care, we found out that it was her first pregnancy, she was unmarried and intermittently had alcohol during the pregnancy. After home delivery, a preterm newborn assumed to be 28 weeks of gestational age was placed under surfactant therapy because of respiratory distress syndrome, and then received a mechanical ventilation. Brain sonography showed that most of the cerebral parenchyma, cortical tissue was absent at the 5th day after the birth. Magnetic resonance images (MRI) of brain showed that almost complete absence of cerebrum which was replaced by CSF, hydranencephaly at 81th days from birth. In summary, we report a preterm newborn with hydranencephaly from an adolescent, unmarried woman who had no antenatal care.

A Case of Hydranencephaly With Exotropia

PURPOSE: To report a large-angle exotropia, limited adduction, epiblepharon, high myopia and no pupillary light reflex in a patient with hydranencephaly. CASE SUMMARY: A ten-year-old girl with mental retardation presented with exotropia. The patient could fix only with the right eye and was unable to follow with either eye. The Krimsky test revealed 95 prism diopters of exotropia, and adduction was severely limited in both eyes. Pupillary light reflex was absent in both eyes. Cycloplegic refraction showed high myopia in both eyes. Slit lamp examination revealed lower lid epiblepharon and inferior corneal opacity in the right eye. No abnormal findings in the fundus examination were detected. A computed tomogram of the brain showed that the cerebral hemispheres were replaced by a cystic space filled with cerebrospinal fluid, compatible with hydranencephaly. Recession of the lateral rectus muscle and resection of the medial rectus muscle with epiblepharon repair of the lower lid were performed in both eyes. One week postoperatively, the epiblepharon was corrected, and the Krimsky test showed 16 prism diopters of left intermittent exotropia at near. CONCLUSIONS: When a combined manifestation of mental retardation, limited adduction, no pupillary light reflex and a large-angle exotropia is present, the possibility of a congenital developmental anomaly of the central nervous system including hydranencephaly should be suspected.

Uso inadecuado de misoprostol. ¿Un problema de salud pública? / Inadequate use of misoprostol. A public health problem?

Introducción: La exposición prenatal a misoprostol durante el primer trimestre se ha asociado con malformaciones congénitas. En los últimos años se informó un aumento en la detección de defectos por disrupción vascular que se asociaron con la exposición prenatal de misoprostol. Métodos: Se describen las características fenotípicas de 7 nuevos pacientes nacidos en Cali, que consultaron la Clínica de Dismorfología del HUV desde mayo de 2005 por presentar malformaciones congénitas asociadas con la exposición prenatal de misoprostol. Resultados: Los diagnósticosá finales de los 9 pacientes incluidos en el estudio son: síndrome de Moebius (3), síndrome de hipoglosia-hipodactilia (1), ciclopíaá(1), gastrosquisis (1), microcefalia (1), secuencia de Klippel Fiel (1) e hidranencefalia (1). La exposición a misoprostol ocurrió entre las semanas 4 a 14 de gestación a dosis que oscilan entre 800 y 1,000 mg. Discusión: Recientemente se informaron 11 casos de malformaciones congénitas relacionadas con la exposición a misoprostol en la Clínica del HUV, que se evaluaron en un período de 4 a±os. Ahora se comunican 7 nuevos casos en dos a±os mßs, lo que sugiere una tendencia aumentar la asociación de malformaciones congénitas y misoprostol. Este artículo muestra la detección creciente de malformaciones congénitas que se asocian con la exposición a misoprostol con fines abortivos en el primer trimestre del embarazo. Las malformaciones observadas no corresponden sólo el síndrome de Moebius, sino a otros defectos de disrupción vascular como gastrosquisis, hipoglosia-hipodactilia e hidranencefalia.

Introduction: The prenatal exposition to misoprostol during the first trimester has been associated to congenital malformations. In the last years it has been reported an increase in the detection of defects by vascular disruption associated with prenatal exposition of misoprostol. Methods: It is described the phenotypic characteristics of 7 new patients born in Cali, who consulted the dysmorphology clinic of the HUV since May of 2005 due to the presence of congenital malformations associated with prenatal exposition to misoprostol. Results: The final diagnoses of the 9 patients included in this study are: Moebius syndrome (3), hypoglosia-hypodactilia syndrome (1), cyclopia (1), gastroschisis (1), microcephaly (1), Klippel Fiel sequence (1) and hydranencephaly (1). The exposition to misoprostol appeared during gestation weeks 4 to 14 to doses between 800 and 1,000 mg, Discussion: Recently 11 cases of congenital malformations related to the exposition to misoprostol had been reported in this hospital. These cases were discovered in a period of 4 years; now the present paper reports 7 new cases in a period of 2 years. This fact suggests an increasing tendency to congenital malformations due to the associationá with misoprostol used as an abortive during the first pregnancy trimester.á The observed malformations do not correspond only to Moebius syndrome, but to other vascular disruption defects like gastroschisis, hypoglosia-hypodactilia and hydranencephaly.

Prolonged Survival of an Adult with Hydranencephaly

Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid. The prognosis for children with hydranencephaly is generally poor, so many children with this disorder die before the age of 1 year. We experienced a patient with hydranencephaly who showed prolonged survival until age of 22 years. To our limited knowledge, this case may be the longest survival of a patient with hydranencephaly in the world.

Two Cases of Prenatal Diagnosis of Congenital Cytomegalovirus Infection / 대한산부인과학회잡지

Cytomegalovirus (CMV) is the most common viral cause of intrauterine infection, and it is the major infectious factor known to be associated with congenital mental retardation and deafness. We had experienced two cases of congenital cytomegalovirus infection at our department of Obstetrics and Gynecology, Chosun University School of Medicine. In both cases, prenatal ultrasonography was abnormal and suggested intrauterine infection and their outcome were different. We present these cases with brief literatures.

A Case of Hydranencephaly Caused by Internal Carotid Artery Occlusion

Hydranencephaly is a condition in which cerebral hemisheres are absent and reduced to fluid-filled sacs in a normal skull. Numerous causes have been proposed, but bilateral occlusion of the internal carotid arteries during early fetal development can explain most of the pathologic abnormalities. We evaluated a case of hydranencephaly by brain CT and magnetic resonance angiography. Magnetic resonance angiography showed flow within the vertebral and basilar arteries without internal carotid intracranial flow above the supraclinoid segment. A brief review of the related literature was given on this subject.

A Case of Hydranencephaly Caused by Internal Carotid Artery Stenosis: Diagnosis with Doppler Sonogram

Hydranencephaly is congenital absence of the cerebral hemispheres which are replaced by a large fluid-filled cavity. The brain stem and basal ganglia are well formed and rudiments of frontal k occipital cortex may be present. We experienced a case of hydranencephaly caused by both internal carotid artery stenosis. We diagnosed it through the brain CT sonogram and doppler sonogram. A brief review of the related literatures was made.

Magnetic Resonance Angiography in One Case of Hydraencephaly

In hydranencephaly, the cerebral hemispheres are absent or represented by membranous sacs with remnants of frontal, temporal or occipital cortex dispersed over the membrane. The brain stem is relatively intact. The cause of hydranencephaly is unknown, but bilateral occlusion of the internal carotid arteries during early fetal development can explain most of the pathologic abnormalities. We evaluated a case of hydranencephaly by magnetic resonance (MR) angiography. MR angiography shows both common, external carotid and vertebrobasilar arteries with no delineation of both internal carotid arteries from their origins. A brief review of the related literature was given on this subject.

CT Diagnosis of Hydranencephaly / 实用放射学杂志

Objective To investigate the pathogenesis pathology,CT diagnosis and differential diagnosis of hydranencephaly.Methods CT manifestations and clinical data of 9 cases with hydranencephaly were analysed retrospectively.Results CT findins of 9 cases were almost defects of bilateral cerebral hemisphere and ventricle.Only a little remainder of occipital,frontal and/or temporal lobes were appearence.The structure of subtentorium was normal.Conclusion CT scan directly shows all appearances of hydranencephaly and is great valuable for diagnosing this disease.

MR Angiography in Hydranencephaly: Case Report

Hydranencephaly is a rare condition in which the cerebral hemispheres are replaced by membranous sacs containing cerebrospinal fluid. Major causes of hydranencephaly include occlusive diseases of the supraclinoid part of internal carotid artery. Magnetic resonance(MR) imaging and MR angiography are the most reliable diagnostic tools for examining the major cerebral arteries in hydranencephaly. We present the MRI and MRA findings in a case of hydranencephaly with a review of the literature.