Aplasia cutis congénita con encefalocele: a propósito de un caso clínico / Congenital aplasia cutis with encephalocele: clinical case study / Aplasia cútis congénita com encefalocele: relato de caso

La aplasia cutis es una rara alteración congénita caracterizada por la ausencia de piel, pudiendo llegar a estructuras más profundas: músculo, hueso y duramadre, como en el presente caso. Se localiza más frecuentemente en el cuero cabelludo, donde se asocia a un defecto óseo en el 20% de los casos. Recién nacido de sexo femenino, término, adecuado para la edad gestacional, vigoroso. Con diagnóstico prenatal a las 36 semanas de edad gestacional de encefalocele. Constatándose al nacimiento microcefalia, hipoplasia ósea y cutánea, encefalocele en línea media de cráneo. Se realizó manejo por equipo multidisciplinario, se practicaron varias intervenciones quirúrgicas, con buena evolución.

Aplasia Cutis is a rare congenital condition, defined by the absence of skin in a particular body region, it can also compromise muscle, bone and dura mater as shown in this case. It is mostly located on the scalp, where it is associated with a bone defect in 20% of cases. We will discuss the case of a female newborn, term gestation, vigorous at birth, with prenatal diagnosis of encephalocele at 36 weeks of gestational age. We observed microcephaly, bone and skin hypoplasia, encephalocele in the midline of the skull at birth. Several surgical interventions were carried out and the follow-up was made by a multidisciplinary team, with good evolution.

A Aplasia Cútis é uma alteração congênita rara, caracterizada pela ausência de pele, podendo atingir estruturas mais profundas: muscular, óssea e dura-máter, como neste caso. Localiza-se mais frequentemente no couro cabeludo, onde está associada a um defeito ósseo em 20% dos casos. É apresentado caso de recém-nascida do sexo feminino, a termo, adequada para idade gestacional, vigorosa. Com diagnóstico pré-natal às 36 semanas de idade gestacional de Encefalocele. Microcefalia, hipoplasia óssea e cutânea e encefalocele na linha média do crânio foram confirmadas ao nascimento. O manejo foi realizado por equipe multidisciplinar, diversas intervenções cirúrgicas, com boa evolução.

The effect of hematoma puncture drainage before decompressive craniectomy on the prognosis of hypertensive intracerebral hemorrhage with cerebral hernia at a high altitude / 中华创伤杂志(英文版)

PURPOSE@#Rapid decompressive craniectomy (DC) was the most effective method for the treatment of hypertensive intracerebral hemorrhage (HICH) with cerebral hernia, but the mortality and disability rate is still high. We suspected that hematoma puncture drainage (PD) + DC may improve the therapeutic effect and thus compared the combined surgery with DC alone.@*METHODS@#From December 2013 to July 2019, patients with HICH from Linzhi, Tibet and Honghe, Yunnan Province were retrospectively analyzed. The selection criteria were as follows: (1) altitude ≥1500 m; (2) HICH patients with cerebral hernia; (3) Glascow coma scale score of 4-8 and time from onset to admission ≤3 h; (4) good liver and kidney function; and (5) complete case data. The included patients were divided into DC group and PD + DC group. The patients were followed up for 6 months. The outcome was assessed by Glasgow outcome scale (GOS) score, Kaplan-Meier survival curve and correlation between time from admission to operation and prognosis. A good outcome was defined as independent (GOS score, 4-5) and poor outcome defined as dependent (GOS score, 3-1). All data analyses were performed using SPSS 19, and comparison between two groups was conducted using separate t-tests or Chi-square tests.@*RESULTS@#A total of 65 patients was included. The age ranged 34-90 years (mean, 63.00 ± 14.04 years). Among them, 31 patients had the operation of PD + DC, whereas 34 patients underwent DC. The two groups had no significant difference in the basic characteristics. After 6 months of follow-up, in the PD + DC group there were 8 death, 4 vegetative state, 4 severe disability (GOS score 1-3, poor outcome 51.6 %); 8 moderate disability, and 7 good recovery (GOS score 4-5, good outcome 48.4 %); while in the DC group the result was 15 death, 6 vegetative state, 5 severe disability (poor outcome 76.5 %), 4 moderate disability and 4 good recovery (good outcome 23.5 %). The GOS score and good outcome were significantly less in DC group than in PD + DC group (Z = -1.993, p = 0.046; χ@*CONCLUSION@#PD + DC treatment can improve the good outcomes better than DC treatment for HICH with cerebral hernia at a high altitude.

Adult Nasoethmoidal Encephalocele Corrected by Supraorbitary Approach: Case Report and Literature Review

Encephalocele is a protrusion of the central nervous system elements through a defect in the dura mater and in the cranium. The prevalence of encephalocele ranges from 0.08 to 0.5 per 1,000 births. The posterior encephaloceles are more common in North America and Europe, while frontal defect is frequently found in Asia. The present paper describes a 26-year-old male patient presenting with cerebrospinal fluid leak and meningitis symptoms. He was diagnosed with congenital nasoethmoidal encephalocele and treated surgically using a supraorbital approach without complications.

Transpalatine Route for the Correction of Transsphenoidal Encephalocele in a Child: A Case Report and Literature Review

Introduction Transsphenoidal encephalocele is a rare neural tube defect characterized by the herniation of meninges and eventually of parts of the brain through a bony defect in the sphenoid bone. The clinical presentation is variable, and surgical treatment is controversial. Case Report This report describes the case of an 8-month-old female child diagnosed with transsphenoidal encephalocele. The child presented with obstruction of the upper airways and was fed via a nasogastric tube but did not present changes in the hypothalamic-pituitary-axis. The patient underwent surgery with the transsphenoidal­transpalatine route, with an excellent outcome and without fistulas or infections. Conclusions Although transsphenoidal encephalocele is a rare congenital anomaly, the transsphenoidal­transpalatine route for the correction of this type of encephalocele is a safe option and produces a favorable outcome in pediatric patients.

Introdução A encefalocele transesfenoidal é um defeito do tubo neural raro, caracterizado por herniação de meninges e eventualmente partes do cérebro através de uma falha óssea no osso esfenoide. A apresentação clínica é variável e o tratamento cirúrgico é controverso. Relato de Caso No presente trabalho descrevemos o caso de uma criança de 8 meses, sexo feminino, com diagnóstico de encefalocele transesfenoidal. Apresentava-se com obstrução de vias aéreas superiores, alimentando-se por sonda nasoenteral e sem alterações do eixo hipotálamo-hipofisário. Tratada com cirurgia via transesfenoidal transpalatal, evoluiu com excelente resultado, sem fístulas e sem infecções. Conclusões Embora a encefalocele transesfonoidal seja uma anomalia congênita rara, a via transpalatina-transesfenoidal para correção deste tipo de encefalocele é uma opção segura e produz um resultado favorável no paciente pediátrico.

Manejo del excedente cutáneo en encefalocele frontonasal gigante / Management of skin facial excess in giant frontonasal encephalocele

Introducción: el Encefalocele frontonasal es poco frecuente y ocurre por una falla en el cierre del tubo neural durante el desarrollo embrionario. Se asocia a otras anomalías del Sistema Nervioso Central. El scanner y la resonancia nuclear magnética permiten decidir la estrategia de resolución según los defectos óseos, la lesión externa y la deformidad de las unidades faciales. Debe manejarse con equipo multidisciplinario para lograr mejores resultados.En la literatura se describe el tratamiento quirúrgico de los encefaloceles anteriores, pero no se menciona la reducción del excedente cutáneo. En la mayoría de los casos el abordaje bicoronal permite el manejo del encefalocele y la piel, pero el problema surge cuando la superficie de la lesión es mayor. Material y método: Reporte de un paciente con encefalocele anterior gigante tratado en nuestro centro. Descripción del caso: Recién nacido de término sin diagnóstico antenatal de encefalocele frontonasal gigante derivado desde región. Se realiza manejo multidisciplinario logrando cierre de defecto neural y manejo del excedente cutáneo considerando las subunidades estéticas faciales para lograr buenos resultados estéticos. Conclusiones: El encefalocele nasofrontal gigante es poco frecuente y requiere un manejo multidisciplinario. La cirugía consiste en la resección de la masa herniada, cierre del defecto y manejo cutáneo. Este caso muestra cómo manejar un colgajo residual considerando las subunidades faciales.

Introduction: The Nasofrontal Encephalocele is rare. It is triggered by a failure in the neural tube closure during the embryonic development. This is associated with other anomalies of the Central Nervous System. The Scanner and the Nuclear Magnetic Resonance allow deciding the best surgical resolution strategy, according to the bone defects, external injury and deformity of the facial subunits. In order to achieve optimal results, a multidisciplinary team is required. In the existing literature, surgical treatment of the Anterior Encephalocele is described. However, the skin facial excess in cases of giant tumors is not described. In most patients, bicoronal incision allows handling both the encephalocele and tissue excess. The problem arises when the injury surface is too wide to be treated by abicoronal incision. Materials and methods: Report of a clinical case of a patient diagnosed with a giant anterior encephalocele, who was treated in our center. Clinical picture and performed surgical treatment are described, emphasizing he skin excess reduction, considering the subunits for the repair. Conclusion: The Giant Nasofrontal Encephaocele is a rare defect that requires a multidisciplinary treatment. This surgery consists of resection of the herniated mass and closure of the defect with or without a cranial vault reconstruction. This case sets an example of how to handle residual flap tissue in patients presenting a frontal facial tumors, considering the facial subunits as a reference for the repair that allowed a good aesthetic results.

Encefalocele frontonasal: reporte de un caso con diagnóstico prenatal / Frontonasal encephalocele: report of a case with prenatal diagnosis

El encefalocele es un defecto congénito mayor que se caracteriza por la herniación del tejido nervioso y las meninges a través de un defecto de la bóveda craneal. Esto se debe a alteraciones del cierre del tubo neural ocurridas en la cuarta semana de gestación. El diagnóstico prenatal es posible realizarlo a través de ecografía 2D y 3D. Se presenta el caso de un neonato con encefalocele anterior, entidad poco frecuente dentro de los defectos del cierre del tubo neural. Se realizó el diagnóstico presuntivo prenatal por ecografía 2D y 3D, y se confirmó al nacimiento por los hallazgos clínicos y escanografía(AU)

The encephalocele is a major birth defect characterized by herniation of neural tissue and meninges through a defect in the skull, due to alterations of neural tube closure occurring in fourth week of pregnancy. Prenatal diagnosis is possible through 2D and 3D ultrasound. We report a case of anterior encephalocele, a rare disease among the defects of neural tube closure, with diagnosis by 3D and 2D ultrasonography, which was confirmed at birth by clinical findings and scan(AU)

Reparación endoscópica de encefalocele esfenoidal, secundario a persistencia del canal de Sternberg / Endoscopic repair of sphenoid encephalocele, secondary to persistence of Sternberg's canal

Las fístulas de líquido cefalorraquídeo (FLCR) nasales se producen por la comunicación entre el espacio subaracnoídeo y el tracto aerodigestivo. Pueden ser adquiridas (secundarias a trauma o iatrogenia) o espontáneas. Éstas últimas pueden ser de origen congénito, tumoral o idiopáticas. El canal lateral craneofaríngeo o de Sternberg se produce por la falta de fusión de los puntos de osificación del seno esfenoidal durante el período embrionario. Esta región, ubicada posterolateral a la pared inferior del seno esfenoidal, queda cubierta solamente por tejido conectivo, siendo la zona de menor resistencia de la base de cráneo. La persistencia de este canal puede causar FLCR, especialmente cuando se asocia a elevación de la presión intracraneana y extensa neumatización. La cirugía endoscópica nasal es la técnica de elección para la resolución de estos casos. En el presente artículo se realiza una revisión de la técnica quirúrgica endoscópica nasal para la resolución quirúrgica de encefaloceles secundarios a persistencia del canal de Sternberg, en base a dos casos clínicos que fueron sometidos a cirugía endoscópica nasal.

Nasal cerebrospinal fluid leaks are caused by a nasal communication between the subarachnoid space and the aerodigestive tract. They may be acquired (secondary to trauma or iatrogenic) or spontaneous. The latter can be congenital, tumoral or idiopathic. The lateral craniopharyngeal canal or Sternberg canal is caused by the lack of fusion of the points of ossification of the sphenoid sinus during the embryonic period. This region, located posterolateral to the bottom wall of the sphenoid sinus, is covered only by connective tissue, being the area of least resistance of the skull base. The persistence of this canal can cause cerebrospinal fluid leaks, especially when associated with elevated intracranial pressure and extensive pneumatization. Nasal endoscopic surgery is the technique of choice for solving these cases. This article is a review of the endoscopic surgical technique of encephaloceles secondary to persistence of Sternberg canal, based on two clinical cases.

Incidence of basilar invagination in patients with tonsillar herniation ? a case control craniometrical study / Incidência da invaginação basilar com heriação tonsilar ? estudo da craniometria do tipo caso-controle

A retrospective case-control study based on craniometrical evaluation was performed to evaluate the incidence of basilar invagination (BI). Patients with symptomatic tonsillar herniation treated surgically had craniometrical parameters evaluated based on CT scan reconstructions before surgery. BI was diagnosed when the tip of the odontoid trespassed the Chamberlain’s line in three different thresholds found in the literature: 2, 5 or 6.6 mm. In the surgical group (SU), the mean distance of the tip of the odontoid process above the Chamberlain’s line was 12 mm versus 1.2 mm in the control (CO) group (p<0.0001). The number of patients with BI according to the threshold used (2, 5 or 6.6 mm) in the SU group was respectively 19 (95%), 16 (80%) and 15 (75%) and in the CO group it was 15 (37%), 4 (10%) and 2 (5%).

Realizamos estudo retrospectivo tipo caso-controle baseado na avaliação craniométrica para avaliar a incidência da Invaginação Basilar (IB). Pacientes com herniação tonsilar sintomática tratada cirurgicamente foram avaliados quanto a parâmetros craniométricos obtidos em reconstrução de TC antes da cirurgia. IB foi diagnosticada quando a ponta do odontóide passava acima da linha de Chamberlain em 2, 5 ou 6,6 mm. No grupo cirúrgico (CI), a distância média da ponta do odontóide acima da linha de Chamberlain foi de 12 mm versus 1,2 mm no grupo controle (CO) (p<0.0001). O número de pacientes com IB conforme o critério diagnóstico usado (2, 5 ou 6,6 mm) foi de 19 (95%), 16 (80%) e 15 (75%) no grupo CI, respectivamente, contra 15 (37%), 4 (10%) e 2 (5%) no grupo CO. Pacientes com herniação tonsilar tinham maior incidência de IB comparados ao grupo controle.

Obliteración del seno frontal para el tratamiento de fístulas de LCR y meningoencefaloceles / Frontal sinus obliteration for treatment of CSF leaks and meningoencephaloceles

El tratamiento endoscópico de las fístulas de LCR se ha convertido en el gold standard. No obstante, aquellas localizadas en seno frontal presentan serias dificultades para su abordaje endoscópico, especialmente si se asocia la existencia de un meningoencefalocele. En estos casos se debe valorar el abordaje externo con obliteración del seno frontal. Presentamos dos casos de fístulas de LCR cuyo origen fue debido a sendos meningoencefaloceles protruyendo a través de la pared posterior del seno frontal y que precisaron de un abordaje externo para su tratamiento.

Endoscopic treatment of CSF leak is the Gold Standard. Nevertheless, at frontal sinus it is very difficult the endoscopic approach, especially if there is a meningoencephalocele associated. In these cases, an external approach with frontal sinus obliteration should be considered. We present two cases of CSF leaks whose origin are meningoencephaloceles that protrude from posterior frontal sinus wall, treated with an external approach.

Encefalocele occipital: reporte de un caso / Occipital encephalocele: a case report

Presentamos el caso de un recién nacido femenino, con encefalocele occipital, diagnosticado en el período perinatal a las 29 semanas de gestación; atendido en los Servicios de Obstetricia y Neurocirugía del Hospital Universitario de Caracas. Se realizó una revisión la literatura dada la poca frecuencia de esta patología

We presente a case of female newborn child with occipital encephalocele diagnosed at 29 weeks of pregnancy; being attended in the Service of Obstetrics and Neurosurgery of the Hospital Universitario de Caracas. A literature review was done by infrecuent pathology

Pattern of encephaloceles: a case series

Encephalocele is the protrusion of the cranial contents beyond the normal confines of the skull through a defect in the calvarium and is far less common than spinal dysraphism. The exact world wide frequency is not known. A substantial proportion of children especially those born with a large encephaloceles are physically and intellectually disabled. Our objective of this descriptive case series was to determine the patterns and surgical outcomes in various types of encephalocele in our setting. The study was carried at Department of Neurosurgery, Liaquat University Hospital, Jamshoro, Sindh, Pakistan during year 2005 to 2007. Patients with encephalocele [occipital, Scincipital, parietal] admitted during year 2005 to 2007 were evaluated for their clinical features. Complete base line investigations were performed including ultrasound, CT scan and MRI of brain. Other congenital anomalies were also noted in record. Written consent was taken. Operative and postoperative records were maintained. Statistical analysis was done by SPSS method. 25 children with encephalocele were selected during the years 2005-2007. Out of these 19 [76%] were male and 6 [24%] female. Age range was 06 days to 2 years. Most common type of encephalocele was occipital 20 [80%]. All patients underwent surgery. Out of 25 only one patient was died. Postoperative follow up showed uneventful results. Most common type of encephalocele is occipital in our set up. Contents of the sac of encephaloceles are dysplastic brain tissue and there is no harm to sacrifice it

Meningoencefalocele transesfenoidal transpalatina / Transspheinoidal transpalatal meningoencephalocele / Transspheinoidal transpalatal meningoencephalocele

A meningoencefalocele transesfenoidal é rara apresentação dos disrafismos do tubo neural. Caracteriza-se pela herniação do tecido neural através de uma falha óssea no osso esfenóide. A apresentação clínica é variável, podendo ser desde assintomática até obstrução das vias aéreas, rinorréia, meningite, disfunção hipotalâmica e anomalias ópticas. Seu tratamento cirúrgico é controverso. Descrevemos o caso de um menino de 7 anos que apresentava uma estrutura pulsátil preenchendo o teto da cavidade oral, disgenesia palatina e hipertelorismo. O diagnóstico de meningoencefalocele transesfenoidal transpalatina foi confirmado pela tomografia computadorizada e ressonância magnética. A criança foi operada com sucesso pela via transpalatal/transesfenoidal.

Transspheinoidal meningoencephalocele is a rare presentation of dysraphism of the neural tube. It is characterized by the herniation of the neural tissue through a bony defect in the sphenoid bone. The clinical presentation is variable. It may be assymptomatic or it may include an upper airway obstruction, rhinorrhea, meningitis, hypothalamic dysfunction and optic anomalies. The surgical treatment is controversial. We describe the case of a 7-year-old boy who presented a pulsate structure filling the palate, palate digenesis and hypertelorism. The diagnosis of transsphenoidal transpalatal meningoencephalocele was confirmed by a computerized tomography and a magnetic resonance imaging. The child was operated on by the transpalatal/transspheinoidal approach with a good result.

Atretic fronto-ethmoidal encephalocele

This case report describes a 4 months old infant with a lump on forehead since birth. The lump turned out to be an atretic encephalocele. Herniation of brain matter through scalp suture lines during intrauterine life is a rare happening. Congenital and environmental factors have been implicated

Meningoencefalocele do osso temporal / Meningoencephalocele of temporal bone

As meningoencefaloceles do osso temporal podem ser congênitas, devido a traumas do osso temporal ou ainda pós-cirurgias da mastóide, que é a causa mais comum. Apresentamos dois casos de meningoencefalocele após cirurgia da mastóide por otite média crônica colesteatomatosa, dando ênfase à via de abordagem cirúrgica e a importância do tratamento cirúrgico precoce para a correção da hérnia.

Meningoencefalocele volumosa intranasal / Large intranasal meningoencephalocele

Meningoencefalocele intranasal é uma afecçäo rara, principalmente em adultos. O caso apresentado mostra uma grande massa que ocupava toda a fossa nasal direita e deslocava o septo inteiramente para o lado oposto. Submetido a tratamento cirúrgico por rinotomia lateral, o paciente evolui satisfatoriamente e assintomático há três anos

Paciente portador de meningoencefalocele occipital, disgenesia de corpo caloso, agenesia parcial de cerebelo, siringomielia e malformaçäo de Arnold chiari II / Patient with occipital meningoencephalocele, callous body dysgenesis, partial cerebellum agenesis, syringomyelia and defect of Arnold Chiari II

Os autores apresentam o relato do caso de uma criança portadora de meningoencefalocele occipital, disgenesia de corpo caloso, agenesia parcial de cerebelo, siringomielia e malformaçao de Arnold Chiari II. Realizam também uma revisao da literatura, analisando as manifestaçoes clínicas, o diagnóstico e o tratamento das patologias em questao.

Encefalocele occipital gigante / Gigant occipital encephalocele

Se presenta el caso de un encefalocele occipital gigante pesquisado en un ultrasonográfico de rutina en embarazo de evolución fisiológica; se concluye breve revisión de esta patología destacando el manejo multidisciplinario en la evolución del estado gravídico, parto y posterior manejo del recién nacido