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.

Delayed Posttraumatic Blepharocele: A Rare Case Report with Review of the Literature / Blefarocele Pós-traumática Tardia: Relato de caso raro com revisão da literatura

Though posttraumatic cerebrospinal fluid (CSF) rhinorrhea and otorrhea are fairly common, blepharocele and blepharoencephalocele are rare, with only 15 cases reported to date. A 29-year-old female patient presented with a complaint of swelling of the right eyelid that had begun three months before. The patient had sustained a head injury 24 years prior to presentation. Imaging studies revealed the presence of a craniopalpebral CSF fistula. The patient underwent successful surgical repair of the fistula with craniotomy and duroplasty by autologous fascia lata graft. Delayed development of blepharocele 24 years after trauma is unusual, and, to our knowledge, the case herein reported is the first one in the literature.

Embora a rinorreia e a otorreia pós-traumática do líquido cefalorraquidiano (LCR) sejam bastante comuns, a blefarocele e a blefaroencefalocele são raras, com apenas 15 casos relatados até o momento. Paciente do sexo feminino, 29 anos, apresentou queixa de edema em pálpebra direita com início há três meses. O paciente havia sofrido um traumatismo cranioencefálico 24 anos antes da apresentação. Os exames de imagem revelaram a presença de fístula liquórica craniopalpebral. O paciente foi submetido com sucesso ao reparo cirúrgico da fístula com craniotomia e duroplastia com enxerto autólogo de fáscia lata. O atraso no desenvolvimento de blefarocele 24 anos após o trauma é incomum e, até onde sabemos, o caso aqui relatado é o primeiro na literatura.

Neural tube defects: Prevalence, mortality, and maternal characteristics in two departmental hospitals in the northwestern region of Nicaragua, 2006-2018.

BACKGROUND: Congenital anomalies are the fifth most common cause of neonatal mortality in Nicaragua, and neural tube defects (NTDs) are the most common of all cases of lethality associated with a birth defect. Prevalence and mortality estimates are needed to propose effective intervention strategies that prevent NTDs over time. METHODS: A cross-sectional study was carried out in northwestern Nicaragua from January 2006 to December 2018. All cases of NTDs (anencephaly, spina bifida, and encephalocele) were registered in hospital surveillance systems, and the medical histories of the mothers and newborns were reviewed. Prevalence was calculated by considering the number of live births and stillbirths older than 20 weeks of gestation with NTDs, divided by the total number of live births and stillbirths in each study year. Neonatal mortality rate (NMR) for NTD, and case fatality for spina bifida was calculated. RESULTS: Two hundred fifty cases of NTDs were identified from 178,498 deliveries (177,316 live births and 1,182 stillbirths). The prevalence of NTDs during this time period was 14.01 (95% CI: 12.27-15.74) per 10,000 births. The prevalence of spina bifida (n = 140), anencephaly (n = 97), and encephalocele (n = 13) was 7.84, (95% CI: 6.54-9.14), 5.43 (95% CI: 4.30-6.45), and 0.73 (95% CI: 0.33-1.12) per 10,000 births, respectively. Mothers with fetus or newborns affected with NTDs did not use folic acid prior to conception, and 11% experienced periods of hyperthermia during the first trimester of pregnancy. NMR for NTDs was 0.55 per 1.000 livebirths. Case fatality for all NTDs and for spina bifida were 55% and 18%, respectively. CONCLUSION: The prevalence and mortality of NTDs in the northwestern region of Nicaragua present peaks and troughs during the study period. Spina bifida was the most frequent type of NTD. We believe that these findings could be of use by health policy makers to strengthen the primary prevention of NTDs in the region through the monitoring of the food fortification policy and folic acid supplementation to women of childbearing age. Additional etiologic studies of NTDs should be considered to identify additional prevention measures.

Sphenoidal meningoencephalocele associated with CSF fistula and arteriovenous malformation Spetzler-Martin V: A case report.

Cerebral Arteriovenous malformations (AVMs) are presumed congenital anomalies of the blood vessels, which can increase intracranial pressure by uncertain mechanisms. We report the rare case of a 55-year-old male patient who complained about CSF rhinorrhea. Persisting CSF leakage prompted CT, which evidenced a bone defect in the right middle cranial fossa with protruding brain tissue. The diagnosis of a sphenoidal meningoencephalocele was made. Neuroimaging evidenced an AVM Spetzler Martin V. The lesion was targeted via an endonasal approach with resection of the herniated brain tissue and closure of the bony and dural defects. The postoperative course was uneventful without recurrence of the CSF fistula. Documentation of these cases is essential to come up with standardized therapeutical protocols and follow-up. Nevertheless, conservative management of the AVM and surgical repair of the bone defects is an appropriate approach in the first instance, depending on the morphology and characterization of the AVM.

Fetal surgery for occipital encephalocele: A case report.

Background: Occipital encephalocele is a congenital defect of the neural tube at the level of the cranial midline, which results in herniation of meninges and brain tissue. The results of the management of myelomeningocele study determine the maternal and fetal risks for an open fetal surgery and have motivated the constant review of the concepts and strategies which the pediatric neurosurgeon can employ for the treatment of neural tube defects in the prenatal period. Case Description: We present a case of a female patient in utero of 26 gestational weeks with the diagnosis of an occipital encephalocele treated by open fetal surgery. During week 20 of gestation, the diagnosis of occipital encephalocele was made by ultrasound, which was corroborated by fetal magnetic resonance that showed cranial protrusion of neural and meningeal content in the occipital region, measuring 1.6 × 2.8 × 3.3 cm with an approximate volume of 7.7 cc through a bone defect of 6 mm. The closure of the defect was performed by the postnatal surgical technique adapted to the open fetal surgery. Later, the patient was born transabdominal with a 2.8 cm occipital wound, with suture points and approximated borders, normocephalic, without clinical signs of sepsis, hydrocephalus, or overt neurologic compromise. Conclusion: Open fetal surgery is a therapeutic option in the face of an isolated occipital encephalocele. This case report demonstrates the viability of the surgical procedure by the adaptation of a postnatal surgical technique to a prenatal surgery. Further studies are needed to evaluate the long-term functional results, comparing them with those seen in patients who undergo a postnatal procedure.

Occipital encephalocele associated with Dandy-Walker malformation: a case-based review.

INTRODUCTION: Occipital encephalocele is a brain malformation that has been remotely associated with Dandy-Walker; only case reports and very small series have been published so far; therefore, their behavior and management are still under investigation. The goal of the present case-based review is to provide a summary of the state of the art in this association. METHODS AND RESULTS: The pertinent literature has been reviewed, and an exemplary case has been reported (an 11-month-old female with Dandy-Walker malformation and occipital encephalocele). So far, 33 cases have been described, with a mean age at surgery of 5, 1 day). The majority of the cases tend to present with hydrocephalus. There are no specific surgery approaches or global consensus about this association. The management possibly relies on surgery with shunt or encephalocele excision but without a dedicated protocol yet. CONCLUSIONS: The clinical research on occipital encephalocele in association with Dandy-Walker malformation is just at the beginning. New targets and wide-ranging clinical trials are needed to get an optimal management protocol.

Encefalocele en paciente con síndrome de Hurler: descripción y revisión de alternativas terapéuticas / Encephalocele in a patient with Hurler syndrome: description and therapeutic alternatives review

Introducción: el síndrome de Hurler es la forma más grave de la mucopolisacaridosis I. El depósito de heparán y dermatán sulfato en las meninges favorece el desarrollo de hidrocefalia y, a su vez, de meningoencefaloceles. Caso clínico: se describe el caso de una paciente de 23 años con este síndrome y un encefalocele nasosinusal intervenido mediante cirugía endoscópica nasosinusal y posterior refuerzo mediante un colgajo pericraneal. Discusión: el abordaje endoscópico de los meningoencefaloceles nasales ha crecido notablemente en los últimos años debido a una tasa de éxito elevada tanto para la eliminación de dicha lesión, como para el adecuado control de la fístula de líquido cefalorraquídeo consecuente. Conclusiones: actualmente, la cirugía endoscópica nasosinusal es una herramienta muy útil para el tratamiento de patologías de base de cráneo y reduce la morbilidad causada por el abordaje transcraneal.

Introduction: Hurler syndrome is the most severe version of mucopolysaccharidosis I. The storage of dermatan and heparin sulfate in meninges allows the development of hydrocephalus and meningoencephaloceles. Case report: We report a 23-year-old female with this syndrome and a sinonasal encephalocele operated by endoscopic sinonasal surgery and subsequent pericranial flap as support. Discussion: Endoscopic sinonasal surgery has grown in last years in relation with treatment of sinonasal meningoencephaloceles due to a high rate of success removing the lesion and closing the subsequent cerebrospinal fluid fistula. Conclusion: Currently, the endoscopic sinonasal surgery has become a useful tool in the management of skull base pathologies, and reduces the morbidity due to a transcranial approach.

Individual variation of tentorial notch morphometry in a series of neurocritical patients / Variación individual de la morfometría de la hendidura tentorial en una serie de pacientes neurocríticos

Background: Cadaveric studies on humans have shown anatomical variabilities in the morphometric characteristics of the tentorial notch. These anatomical variations could influence the worsening of neurocritical patients. Objectives: 1) To investigate the morphometric characteristics of the tentorial notch in neurocritical patients using computed tomography (CT); 2) To investigate the correlation between tentorial notch measurements by CT and by magnetic resonance imaging (MRI); and 3) To analyze the individual variability of the tentorial notch anatomy seen in neurocritical patients. Methods: Prospective series of neurocritical patients was examined. An imaging protocol for measurements was designed for CT and MRI. The level of the agreement of the measurements from CT and MR images was established. According to the measurements found, patients were divided into different types of tentorial notch. Results: We studied 34 neurocritical patients by CT and MRI. Measurements of the tentorial notch via CT and MRI showed significant agreement: concordance correlation coefficient of 0.96 for notch length and 0.85 for maximum width of tentorial notch. Classification of tentorial notch measurements according to the criteria established by Adler and Milhorat, we found the following: 15 patients (58%) corresponded to a "short" subtype; 7 (21%) to "small"; 3 (9%) to "narrow"; 2 (6%) to "wide"; 2 (6%) to "large"; 1 (3%) to "long"; and 4 (12%) to "typical". Conclusions: The anatomical variability of the tentorial notch could be detected in vivo by means of CT scan and MRI. Good agreement between the measurements made using these two imaging methods was found.

Antecedentes: Estudios cadavéricos en humanos han mostrado variabilidad anatómica en las características morfométricas de la hendidura tentorial (HT). Estas variaciones anatómicas podrían influir en el neurodeterioro agudo de los pacientes neurocríticos. Objetivos: 1) Investigar las características morfométricas de la HT en pacientes neurocríticos mediante tomografía computarizada (TC); 2) Investigar la correlación de las mediciones de la HT realizadas por TC y resonancia magnética (RM); 3) Analizar la variabilidad individual de la anatomía de la HT observada en pacientes neurocríticos. Métodos: Se examinó una serie prospectiva de pacientes neurocríticos. Se diseñó un protocolo de imágenes para mediciones por TC y RM. Se estableció la concordancia de las mediciones realizadas mediante TC y RM. Según las mediciones encontradas, los pacientes se dividieron en diferentes tipos de HT. Resultados: Estudiamos 34 pacientes neurocríticos por TC y RM. Las mediciones de la HT por TC y RM mostraron una concordancia significativa: coeficiente de correlación de concordancia de 0,96 para la longitud de la HT y 0,85 para el ancho máximo de la HT. Clasificando las medidas de la HT de acuerdo con los criterios establecidos por Adler y Milhorat, encontramos: 15 pacientes (58%) correspondieron al subtipo "corto", 7 (21%) al "pequeño", 3 (9%) al "estrecho" ", 2 (6%) a "ancho ", 2 (6%) al "grande ", 1 (3%) al "largo" y 4 (12%) al "típico". Conclusiones: Se pudo detectar variabilidad anatómica de la HT in vivo, mediante TC y RM. Se encontró una buena concordancia en las medidas obtenidas con ambos métodos imagenológicos.

Hydrocephalus and occipital encephaloceles: presentation of a series and review of the literature.

INTRODUCTION: Encephaloceles are rare congenital malformations of the central nervous system in which brain tissue is extruded from a defect in the skull. Hydrocephalus can occur in 60 to 90% of patients with posterior encephaloceles when compared to other types of this malformation. This article aims to present a series of posterior encephaloceles and its association with hydrocephalus as well as promote a review of the pertinent literature. MATERIAL AND METHODS: A retrospective study of our series based on hospital charts of 50 patients with posterior encephaloceles was performed. Data on sex, location of encephalocele, presence of associated malformations, presence of neural tissue within the malformation, presence of hydrocephalus and microcephaly were recorded. RESULTS: There were 29 females and 21 males. There were 25 (50%) supratorcular, 8 (16%) torcular, and 17 (34%) infratorcular lesions. Mean age of encephalocele primary repair was 8 days (range 2-120 days). Hydrocephalus was diagnosed in 25 (50%) of the cases. Ventriculoperitoneal shunt was inserted in 24 patients. The mean age at VP shunt insertion was 1.3 months (range 0.3-9 months). Endoscopic third ventriculostomy was successfully performed in one patient. Dandy-Walker malformation and ventriculomegaly prior to encephalocele surgical correction were positively associated with hydrocephalus (p values 0.05 and 0.01, respectively). Chiari III malformation was found in 2 cases, both requiring CSF shunt for treatment of hydrocephalus and are stable in follow-up. Microcephaly was present in 9 cases. The known mortality rate was 8%. CONCLUSIONS: Hydrocephalus is common in patients with posterior encephaloceles, being more frequent in the supratorcular type, especially when associated to Dandy-Walker, Chiari III malformation, and pre-existing ventriculomegaly. The severity of giant encephaloceles, when associated to torcular types and microcephaly, is a limiting factor for development of hydrocephalus, due both to the rapid evolution of natural history and the structural changes in microcephaly.

Encefalocele occipital gigante sin complicaciones neonatales inmediatas / Giant occipital encephalocele without immediate neonatal complications

RESUMEN El encefalocele se produce por un defecto del tubo neural debido a una insuficiencia de la superficie ectodérmica de separarse del neuroectodermo. Este tipo de defecto incluye una etiología multifactorial. Se presentó el caso de una paciente de 43 años, raza indígena, con historia obstétrica de 14 embarazos (13 partos y 1 aborto espontáneo). La paciente acudió con dolor al servicio de urgencia del Centro de atención integral materno-infantil de Ixchiguán, San Marcos, Guatemala (fue atendida como parte de la colaboración médica cubana). En la cesárea se obtuvo un recién nacido con encefalocele occipital, sin complicaciones neonatales inmediatas. El pronóstico para los pacientes con este tipo de malformación congénita es variable, pues depende, en primer lugar, de la localización y el tamaño, del tipo de tejido cerebral herniado, y por otro lado, del número, tipo y gravedad de las malformaciones asociadas.

ABSTRACT Encephalocele occurs from a neural tube defect due to a failure of the ectodermal surface to separate from the neuroectoderm. This type of defect includes a multifactorial etiology. We present a 43-year-old female indigenous patient, with an obstetric history of 14 pregnancies (13 deliveries and 1 spontaneous abortion). She came with pain to the emergency service of the Comprehensive Maternal and Child Care Center of Ixchiguán, San Marcos, Guatemala and was treated as part of the Cuban medical collaboration. A neonate with occipital encephalocele, without immediate neonatal complications, was born by caesarean section. Patient prognosis with this type of congenital malformation is variable, since it depends, firstly, on its location and size, type of herniated brain tissue, and on the other hand, on the number, type and severity of the associated malformations.

MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico.

Our study investigated the role of MTHFR C677T and A1298C variants in infants with neural tube defects (NTDs) from western Mexico. Using TaqMan allelic discrimination assay, we genotyped 101 live-born patients with NTDs (cases) and 247 controls. Our findings do not support that homozygosity or heterozygosity for the variants C677T and A1298C in the MTHFR gene are associated with NTDs in infants. However, since we have the highest worldwide frequency of homozygotes for the MTHFR C677T variant, we cannot rule out that our propensity for NTDs may be related to how such gene variant interacts with other factors, mainly with our secular patterns of inappropriate folate intake.

Caso Clínico: Meningohidroencefalocele Gigante / Case Report: Giant Meningohydroencephalocele

INTRODUCCIÓN: Los encefaloceles son una anomalía congénita rara, que afecta a 1 de cada 5 000 nacidos vivos. Un meningohidroencefalocele es la herniación de meninges, ventrículos y parte del encéfalo a través de un defecto congénito en el cráneo. El pronóstico de los recién nacidos con encefalocele depende de varios factores. La corta edad y las anomalías congénitas asociadas en estos pacientes plantean desafíos en el diagnóstico y manejo. CASO CLÍNICO: Recién nacido masculino, nacido a las 37 semanas de gestación, por cesárea de emergencia por parto en fase latente, presentado una masa de gran tamaño, sobre la región parieto-occipital, de bordes lobulados, irregulares, cubierta en parte por cuero cabelludo, y en otras zonas de un tono rojo violáceo. El neonato fue poco reactivo, con tono disminuido, llanto ausente. EVOLUCIÓN: Tras valoración del caso por especialistas, debido al importante defecto de la calota craneal y las anomalías estructurales cerebrales, el paciente no fue candidato para tratamiento quirúrgico. Neonato fue dado de alta con expectativa de vida reducida, para recibir cuidados en el hogar. CONCLUSIÓN: El meningohidroencefalocele gigante es un defecto del tubo neural poco frecuente. El manejo de las encefaloceles puede ser complicado y debe ser individualizado y dependerá de las estructuras anatómicas comprometidas. Si bien en este caso el pronóstico fue malo, siempre es necesario el trabajo multidisciplinario para un adecuado manejo.

BACKGROUND: Encephaloceles are a rare congenital anomaly, affecting 1 in 5 000 live births.A meningohydroencephalocele is the herniation of the meninges, ventricles, and part of the brain through a congenital defect in the skull. The prognosis of newborns depends on several factors. The young age and the associated congenital anomalies in these patients contribute to the diagnostic and treatment challenge. CASE REPORT: Male newborn, born at 37 weeks of gestation, by emergency C-section due to latent labor, presenting a large mass over the parieto-occipital region, with lobed, irregular edges, partially covered by the scalp, and in other areas a purplish red tone. The newborn was no very reactive, had decreased tone, absent crying. EVOLUTION: After specialist's evaluation, due to the significant defect in the cranial shell and the structural brain abnormalities, the patient was not a candidate for surgical treatment. The newborn was discharged with a reduced life expectancy, to receive care at home. CONCLUSION: giant meningohydroencephalocele is a rare neural tube defect. The management of encephaloceles can be complicated and must be individualized, and will depend on the anatomical structures involved. Although in this case the prognosis was bad, multidisciplinary work is always necessary for proper management.

Tectocerebellar dysraphia and occipital encephalocele associated with trisomy X: case report and review of the literature.

INTRODUCTION: Tectocerebellar dysraphia (TCD) is a rare sporadic malformation associated with severe neurodevelopmental morbidity and high infant mortality. The presence of other ciliopathies worsens the prognosis. Joubert syndrome (JS) is a ciliopathy associated with gene mutations, consisting of midbrain and cerebellum malformations, markedly lack fiber decussation at the level of the pontomesencephalic junction. CASE REPORT: We report the case of a child who was born term with occipital encephalocele (OE), diagnosed with TCD and JS spectrum through computed tomography (CT), magnetic resonance (MR), diffuse tensor imaging (DTI), and clinical findings. She had the OE surgically corrected after spontaneous rupture on the second day after delivery. She developed postoperative ventriculitis, meningitis, and hydrocephalus, successfully treated with intravenous antibiotics and cysto-ventriculostomy, cysto-cisternostomy, third ventriculostomy, and choroid plexus coagulation. G-band karyotyping showed 47, XXX, in all analyzed cells (trisomy X). The infant was followed up for 18 months, presenting, so far, a relatively good outcome. CONCLUSION: This is the first case reported in the literature of the association of TCD/OE/JS spectrum (JSS) with trisomy X (XXX).

A hybrid simulation model for pre-operative planning of transsphenoidal encephalocele.

Congenital transsphenoidal encephalocele (CTE) surgical correction is a challenging procedure. Although rare, this anomaly, characterized with neural herniation elements, including the pituitary gland or optic pathway through the sphenoid bone with anatomical alteration, can be presented in many different ways and should be individually analyzed. Significant advances in medical technology and the 3D models may simulate the complex anatomical relations of the human body. Nowadays, medical education relies on the availability of standardized materials that can reliably emulate human anatomy. Therefore, realistic anatomical models have become an alternative for cadavers or animal specimens. In this technical note, the authors present a new technique to create personalized models that combine 3D printing, molding, and casting to create an anatomically and tactilely realistic model based on magnetic resonance and computerized tomography images. Produced from different silicon types, the model recreated the anatomic alterations precisely, allowing a multidisciplinary team to determine the adequate surgical approach for this patient. We describe a case of congenital transsphenoidal encephalocele of a 3-year-old boy, whose surgical correction was planned using a hybrid model. The technical description of the model is given in detail. This new hybrid model allowed a detailed discussion of the surgical approach aspects by having tissues of different consistencies and resistances and a very high prediction rate. This approach may allow a reduction in surgery time and possible complications after operative procedures.

Intracranial Translucency, Its Use as a Potential First Trimester Ultrasound Marker for Screening of Neural Tube Defects.

The objective of the study was to describe a case-series of neural tube defects (NTD) with an abnormal intracranial translucency (IT) detected during the first-trimester ultrasound scan, performed on a low-risk obstetric population in Mexico. Certified Fetal Medicine specialists performed all US scans; the IT was assessed using the mid-sagittal view of the fetal head, which is already systematically used for nuchal translucency and nasal bone evaluation. During the study, we were able to find that eight fetuses had an absence of the intracranial translucency, out of which two were reassessed at 14 weeks' gestation and IT was normal, six of them were later diagnosed to have an NTD that consisted in spina bifida aperta (n = 5) and encephalocele (n = 1). Conclusion: As previous studies have shown, IT evaluation during the first-trimester US routine scan may be a useful screening marker for early detection of NTDs.

Amniotic Band Syndrome with Placenta-Encephalocele Adhesion: An Uncommon Case.

Amniotic band syndrome is a rare condition that is associated with various malformations. Its etiology is controversial. The neuroimage shown here is of a newborn with placenta-encephalocele adhesion and other malformations that suggest amniotic band syndrome.

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.

Anatomical implications of posterior cephaloceles in the dural venous sinuses.

OBJECTIVE: To analyze the venous anatomy of the dural sinuses of patients with posterior encephaloceles, in order to formulate anatomical patterns which can ensure safer surgery. METHODS: This is a retrospective study, analyzing eight patients diagnosed with posterior encephalocele throughout 1 year. RESULTS: Eight patients with cephaloceles were evaluated in our study from January 2017 to January 2018. The most common alteration was dysgenesis of the straight sinus (n = 7), followed by venous anomalies in the encephalocele and alterations in the SSS (superior sagittal sinus) (n = 4), and the occurrence of a falcine sinus (FC) in 3 patients. CONCLUSION: Anatomical variations are frequent in patients with cephaloceles. Therefore, an understanding of them is necessary for safe and effective treatment.

Amniotic band syndrome with double encephalocele: A case report.

BACKGROUND: Amniotic band syndrome (ABS) is a rare condition of controversial etiology that is associated with varying degrees of anomalies. This study reports a case of a newborn with ABS associated with double encephalocele in the frontal region. CASE DESCRIPTION: A 29-year-old primiparous woman with no history of prenatal infection or consanguineous marriage had a cesarean section at gestational week 38, giving birth to a newborn who was well but had limb anomalies (constriction rings, amputations, and syndactyly) and craniofacial anomalies, mainly double frontal encephalocele. The patient underwent surgical repair and subsequent placement of a ventriculoperitoneal shunt. CONCLUSION: Studies clarifying this uncommon association with double encephalocele are limited. ABS associated with double encephalocele is rare and even more complex when associated with other anomalies. Thus, the conditions in such children are severe and require multidisciplinary monitoring.

Amniotic Band Syndrome Associated with Exencephaly: A Case Report and Literature Review.

Amniotic band syndrome (ABS) is a rare congenital disease with variable manifestations ranging from simple constriction rings at the extremities to major defects such as exencephaly. Here we report the case of a female baby born full term (39 weeks) from a 35-year-old primiparous mother by cesarean section. In addition to the constriction rings at the extremities (fingers), the newborn presented facial malformations and a cranial anomaly suggestive of exencephaly. Supportive treatment was chosen because of the poor prognosis, and the child died 5 months later. Depending on the anomaly associated with ABS and its complexity, as in our case, genetic studies should be performed whenever possible, and the parents should be informed about the possibility of recurrences and incompatibility with life.