Síndrome de Currarino incompleto. Presentación de un caso

El síndrome de Currarino es una enfermedad hereditaria y de baja incidencia, compuesta por una tríada: estenosis anal, malformación sacro coccígea y masa presacra. Puede cursar desapercibido hasta la adultez y generar subdiagnósticos. Se describe un paciente de 75 años, masculino, piel negra, de procedencia urbana y con antecedentes de hipertensión arterial, quien acudió al hospital por presentar hematuria, dolor en fosa lumbar izquierda y estreñimiento. Se realizaron estudios imagenológicos, como ultrasonido, tomografía de abdomen y resonancia magnética lumbosacra, los cuales condujeron al diagnóstico de tumor renal, síndrome de Currarino incompleto (dado por dos elementos de la triada: malformación sacro coccígea y masa presacra) asociado a otra enfermedad malformativa raquimedular, médula anclada. Son pocos los casos reportados en el mundo (casi 300), por lo que se considera una entidad rara, pero de fácil diagnóstico debido al advenimiento de las nuevas tecnologías en el campo de la imagenología.

Currarino syndrome is a hereditary disease with a low incidence, composed of a triad: anal stenosis, sacrococcygeal malformation and presacral mass. It can go unnoticed until adulthood and generate subdiagnoses. A 75-years-old male, black-skinned, urban origin patient with a history of arterial hypertension is described, who attended the hospital presenting hematuria, pain in the left lumbar fossa, and constipation. Radiological studies such as ultrasound, abdominal tomography and lumbosacral magnetic resonance were performed, which led to the diagnosis of a renal tumor, incomplete Currarino syndrome (given by two elements of the triad: sacrococcygeal malformation and presacral mass) associated with another spinal cord malformation disease, tethered cord. There are few cases reported in the world (almost 300), so it is considered a rare entity, but easy to diagnose due to new imaging technologies.

Neonatal lateral meningocele syndrome: report of a case and literature review / 中华围产医学杂志

Objective:To investigate the clinical characteristics and pathogenic gene mutation of lateral meningocele syndrome(LMS).Methods:We retrospectively collected the clinical manifestations, laboratory examination, imaging examinations, and genetic analysis of a neonate with LMS which was diagnosed at the Department of Neonatology of the Second Affiliated Hospital of Wenzhou Medical University in May 2020. Relevant literature up to February 2021, retrieved from PubMed, OMIM, CNKI, Wanfang, and CQVIP database with the terms of "lateral meningocele syndrome", " NOTCH3", were reviewed to summarize the clinical characteristics, pathogenesis, and genetic etiology of this disease. Results:A full-term male newborn was admitted to our hospital due to feeding difficulty 7 d after birth. The clinical characteristics included hypotonia, dysphagia, hypertension, lateral spinal meningocele, craniofacial anomaly, and cryptorchidism. Abnormal spinal MRI and brainstem evoked potential were also observed. Whole exome sequencing revealed a heterozygous frameshift variation c.6667_6686del(p.Ala2223Profs*12) of NOTCH3 gene located in 19p13.12, which was not detected in the parents. Only 12 English literature were retrieved, with 17 patients from 15 pedigrees. Out of the 18 patients including the index case, 10 were genetically diagnosed as LMS. The age at diagnosis ranged from 15 d to 55 years. Regarding the clinical features, multiple lateral thoracolumbar spinal meningoceles (18/18) was the most common one, followed by retrognathia and low-set ears (16/18), eyelid ptosis and down slanting palpebral fissures (15/18), hypotonia (13/18), hypertension (11/18), developmental delay (9/18), mixed or conductive hearing loss (9/18), cardiovascular dysplasia (7/18), and cryptorchidism (7/10). A total of nine NOTCH3 gene variants were detected, all were heterozygous variants, including six frameshift and three nonsense variants. Conclusions:LMS is caused by NOTCH3 gene mutation with the clinical characteristics including multiple lateral thoracolumbar spinal meningoceles, craniofacial dysmorphisms, hypotonia, hypertension, developmental delay, difficulty in feeding, cryptorchidism, etc.

Recursos fisioterapêuticos nas disfunções miccionais em injúrias espinhais congênitas / Physiotherapeutic resources in voiding dysfunctions in congenital spinal injuries

Malformações congênitas são alterações morfológicas com origem no desenvolvimento embrionário e podem ser devido a causas genéticas, ambientais ou ambas. Em indivíduos que sofrem de injúrias espinhais congênitas, a bexiga neurogênica (BN) é um dos acometimentos com maior impacto na vida diária e o principal objetivo urológico é melhorar o manejo urinário e a continência social, para diminuir altas pressões vesicais e prevenir danos renais. Esta condição reflete diversas repercussões, como a diminuição na qualidade de vida, progressão para procedimentos invasivos, lesão renal e ao óbito. Objetivo: Revisar sistematicamente os estudos publicados nos últimos 10 anos a respeito da atuação da fisioterapia na incontinência urinária (IU) nas injúrias espinhais congênitas. Métodos: Revisão sistemática de literatura realizada através de busca, entre os anos de 2009 a 2019, nas bases de dados eletrônicas PubMed, Bireme e PEDro. Resultados: Não houve grande conformidade em relação às técnicas utilizadas, mas sim em relação aos desfechos analisados, sendo verificado estudos sobre IU na espinha bífida. Conclusão: A fisioterapia mostrou-se benéfica para os casos de IU nas injúrias espinhais congênitas, melhorando os parâmetros urodinâmicos e o desfecho no diário miccional. (AU)

Congenital malformations are morphological changes originating from embryonic development and can be due to genetic, environmental or both. In individuals suffering from congenital spinal injuries, the neurogenic bladder (BN) is one of the disorders with the greatest impact on daily life and the main urological objective is to improve urinary management and social continence, to decrease high bladder pressures and prevent kidney damage. This condition reflects several repercussions, such as a decrease in quality of life, progression to invasive procedures, kidney injury and death. Objective: To systematically review the studies published in the last 10 years regarding the role of physical therapy in urinary incontinence (UI) in congenital spinal injuries. Methods: Systematic literature, between the years 2009 to 2019, in the electronic databases Pubmed, Bireme and PEDro. Results: There was no great conformity in relation to the techniques used, but in relation to the analyzed outcomes, with studies on UI in spina bifida being verified. Conclusion: Physical therapy proved to be beneficial for cases of UI in congenital spinal injuries, improving urodynamic parameters and the outcome in the voiding diary. (AU)

A prospective observational study of associated anomalies in hirschsprung's disease

Background: Hirschsprung's Disease (HSCR) is the commonest congenital gut motility disorder and is characterized by the absence of ganglion cells in a variable length of the distal gut. According to literature , HRSCD may be associated with a chromosomal abnormality or other congenital anomalies in approximately 20% of cases HSCR appeared to be a multifactorial malformation with low, sex dependent penetrance and variable expression according to the length of the a ganglionic segment, suggesting the involvement of one or more gene (s) with low penetrance. So far, eight genes have been found to be involved in HSCR. This frequent congenital malformation now stands as a model for genetic disorders with complex patterns of inheritance. The objective of this study was to collect and study personal and family history and any information regarding known associated anomalies in patients diagnosed as Hirschsprung's disease.Methods: Here author present a series of 89 consecutive HSCR patients who were admitted or attended the Pediatric Surgery OPD of in a tertiary care Government medical college, who were evaluated for associated malformations with the help of available non-invasive investigation.Results: Congenital heart diseases and Down's syndrome were the two most common associated anomalies. Genitourinary anomalies, Limb anomalies and central nervous system anomalies were other associated anomalies. Conclusions: This study confirmed the underestimation of certain associated anomalies in Hirschsprung patients, such as CNS anomalies. Based on the results of this study, in addition to meticulous general examination author suggest performing cardiologic assessment in patients diagnosed with Hirschsprung's disease based on clinical features and according to the standards of care adopted for the general population.

Mature intracranial teratoma with meningocele in a lamb / Teratoma intracraniano benigno com meningocele em um cordeiro

ABSTRACT: This study described the pathological aspects of a mature intracranial teratoma with meningocele in a one-day-old lamb. The diagnosis of mature teratoma was based on microscopic features, where well-differentiated tissues representative of the three germ layers were observed. The tumor consisted of respiratory, gastrointestinal and urinary epithelium as components of the endoderm; muscle and bone tissues as components of the mesoderm; and keratinized stratified squamous epithelium and adnexa as components of the ectoderm. To the best of our knowledge, this is the first report of intracranial teratoma with meningocele in animals.

RESUMO: Descrevem-se os aspectos patológicos de um teratoma intracraniano benigno com meningocele em um cordeiro de um dia de idade. O diagnóstico de teratoma benigno foi baseado nos achados histopatológicos, com tecidos representativos das três camadas germinativas. O tumor consistia de epitélio respiratório, gastrintestinal e urinário como componentes do endoderma; tecido muscular e ósseo do mesoderma; e epitélio escamoso estratificado queratinizado e anexos como componentes do ectoderma. Com base no conhecimento dos autores, este é o primeiro relato de teratoma intracraniano com meningocele em animais.

Perfil epidemiológico de mortalidade por espinha bífida / Epidemiological profile of mortality from Spina Bifida

Objetivo: Avaliar o perfil epidemiológico nacional de mortalidade por espinha bífida. Métodos: Trata-se de estudo observacional, descritivo, de série temporal, a partir de dados obtidos da plataforma eletrônica do Departamento de Informática do Sistema Único de Saúde entre os anos de 2005 e 2015. Resultados: Nesse período, as proporções de óbitos infantis relacionados à espinha bífida diminuíram. As Regiões Sul e Sudeste mantiveramse abaixo da média nacional, e as demais permaneceram acima, corroborando o maior apoio técnico nas regiões consideradas referências em saúde no país. As maiores diminuições proporcionais nos coeficientes de mortalidade infantil ocorreram no Nordeste e no Centro-Oeste, de 351,55 a 155,56 e de 809,52 a 290,32, respectivamente. Isso pôde ser justificado por essas duas regiões apresentarem maiores proporções de óbitos. Conclusão: Com a atenuação de outras causas de mortalidade infantil, as malformações evidenciaram-se. O acompanhamento pré-natal, a adoção de estilo de vida saudável pelas gestantes e a prevenção dos fatores de risco para defeitos de fechamento do tubo neural, sobretudo pela suplementação com ácido fólico, merecem destaque na redução do número de óbitos infantis e na perpetuação da vida.

Objective: To evaluate the national epidemiological profile of mortality from Spina Bifida. Methods: This is an observational, descriptive study of a time series, based on data obtained from the electronic platform of the Department of Informatics of the Unified Health System (DATASUS) between 2005 and 2015. Results: In this period, the proportions of infantile deaths related to spina bifida decreased. The Southern and Southeastern regions remained below the national average, while the others remained above, resulting in a greater technical support from the regions considered health references in the country. The largest proportional decreases in infant mortality coefficients took place in the Northeast and Midwest, from 351.55 to 155.56, and from 809.52 to 290.32, respectively. This can be justified by the fact that these two regions have higher proportions of deaths. Conclusion: Because of the attenuation of other causes of infant mortality, the malformations were evidenced. Prenatal follow-up, the adoption of a healthy lifestyle by pregnant women, and the prevention of risk factors for neural tube defects, especially through folic acid supplementation, shall be highlighted for the reduction in the number of infant deaths, and for perpetuation of life

Quiste aracnoideo sacro recidivante con meningocele anterior gigante: reporte de caso / Sacral arachnoid recurrent cyst with giant anterior meningocele: a case report

Los quistes aracnoideos corresponden a lesiones benignas expansivas del canal medular secundarias a defectos anatómicos durales, mientras que los meningoceles anteriores consisten en la herniación de la duramadre hacia la pelvis a través de forámenes dilatados o defectos óseos. Ambas entidades son infrecuentes y sus manifestaciones clínicas puede variar de acuerdo a estructuras anatómicas que comprimen. Una historia clínica completa, la pesquisa diagnóstica y la adecuada interpretación de imágenes orientan al diagnóstico y manejo de estos pacientes. Se presenta el caso de una paciente adulta mayor con historia de masa pélvica, dolor lumbar severo y monoparesia en quien se realizó el diagnóstico incidental de quiste aracnoideo sacro y meningioma sacro anterior.

Arachnoid cysts are benign expansive lesions of the spinal canal secondary to dural defects, whereas the anterior meningoceles consist of the herniation of the dura into the pelvis through dilated foramina or bone defects. Both pathologies are infrequent and its clinical manifestations vary according to compressed anatomical structures. A complete clinical history, the diagnostic investigation and the correct imaging studies interpretation guide the diagnosis and management of these patients. We present the case of an elderly adult patient with a history of pelvic mass, severe lumbar pain and monoparesis in whom the incidental diagnosis of sacral arachnoid cyst and anterior sacral meningioma was performed.

Spina Bifida - A Retrospective Study

Background: The occurrence of congenital anomalies is increasing in the present era. The incidence is estimatedto be 3-7% of the congenital disorders.Aim: The present study is focused on the spina bifida and to know the incidence of spinal defects in north Indianpopulation. This study will be helpful for providing baseline data from the north Indian population.Methodology: The present study was done on 1400 fetuses which were sent by gynecology and obstetricsdepartment of GMCH Sec. 32, Chandigarh to anatomy department for autopsy purpose during period of 2008 to2017. In every case, location and morphology of spinal defects were observed.Results: The present study showed 11.7% cases with spinal defects, out of these, 1.2% spina bifida closed(occulta) and 10.5% spina bifida open defects were noted which included 1.2% ventral spinal defects, 31.7%with meningocele, 24.3% myelomeningocele, 28.6% myelocele and 12.8% with rachischisis.Conclusions: It is important to note the detection of congenital anomalies in early stage of gestation. It isadvantageous for the obstetrician in planning the line of management whether to continue the pregnancy or not.

Epidemiological study of neural tube defects in Jammu division, India

Background: Prevalence and spectrum of neural tube defects has undergone seasonal and secular variations in different regions of the world since the turn of last century. However precise etiology inspite of lot of research has not been clearly elucidated.Methods: The study was conducted in Government Medical College Hospital and SMGS Hospital Jammu in patients diagnosed to have a neural tube defect from birth to 19 years. History regarding sociodemographic profile, antenatal history and significant birth history was elicited. Complete general physical examination, Local examination of the lesion was carried out and neural tube defects were classified. All the cases were subjected to ultrasound head to determine ventricular size and rule out hydrocephalus. The data was entered in Microsoft Excel and results were presented in form of percentages and proportions.Results: Maximum children admitted were in the age group of <1 month and belonged to Jammu district. Commonest anomaly seen was lumbosacral meningomyelocele with associated hydrocephalus and neural deficit. Mothers who gave birth to an NTD affected child were commonly in the age group of 20-30 years, with commonest NTD affected sib being 1stborn and most of parents being from very low socio-economic strata of society. Only 7 mothers had received antenatal advice with ultrasound and almost none had received folic acid either before or after conception.Conclusions: Neural tube defects appear to be fairly common anomaly among females of lower socioeconomic strata, living in far flung mountainous regions of the state, devoid of proper health care facilities and education.

Experience in the treatment of postoperative cerebrospinal fluid leakage followed by surgical management of a spinal meningocele combined with infection / 中华整形外科杂志

A 37-year-old woman presented with a congenital spinal meningocele for 37 years and ruptured for 6 months. She was admitted to the Plastic Surgery Hospital of the Chinese Academy of Medical Sciences in March 2018. The diameter of the lesion was about 10 cm, with purulent secretion and malodor. The superior gluteal artery perforator propeller flap was used to reconstruct the defect after the lesion resection. Part of the wound didn’t heal and cerebrospinal fluid leaked from the wound postoperatively. The wound eventually healed after wound debridement and drainage changing. Cerebrospinal fluid retention under the flap could result in wound dehiscence and cerebrospinal fluid leakage. The author introduced the treatment process and operative method. The preliminary experience in treating cerebrospinal fluid leakage after surgical management of the spinal meningocele was also summarized.

Benefícios de uma intervenção motora para uma criança com meningocele: Um estudo de caso / Benefi ts of motor intervention for a child with meningocele: A case study

O objetivo deste estudo de caso foi verifi car os efeitos de uma intervenção motora na motricidade fina e ampla, no equilíbrio, na aptidão e nos níveis de atividade física, na percepção de competência e estado nutricional de uma criança de 5 anos com meningocele e hidrocefalia. A intervenção motora foi implementada com o Clima de Motivação para Maestria em um período de 16 semanas (32 aulas). Nas aulas foram oferecidas oportunidades de prática e atividades variadas com ênfase nas habilidades motoras fundamentais e de equilíbrio. Para avaliar a motricidade ampla, fi na, equilíbrio e aptidão física foram utilizados os testes Bruininks Ozeretzky ­ Second Edition (BOT-2), Test of Gross Motor Development ­ Second Edition (TGMD-2); para avaliar o nível de atividade física foi utilizado pedômetro em 3 aulas do programa interventivo na pré-intervenção e pós-intervenção; o índice de massa corporal foi utilizado para analisar o estado nutricional, classifi cado conforme as curvas do Center of Disease Control (DCD); para avaliar a percepção de competência foi utilizada a Pictorial Scale of Perceived Competence and Acceptance. Os resultados do presente estudo evidenciam mudanças positivas na motricidade ampla e fi na, nos níveis de atividade física, na percepção de competência motora e no estado nutricional da criança. A intervenção motora foi efetiva em potencializar o desenvolvimento de uma criança com meningocele....(AU)

The objective of this case study was to investigate the eff ects of a motor intervention in fi ne and gross motor skills, balance, physical fi tness, physical activity levels, perceived competence and nutritional status of a child of fi ve years with meningocele and hydrocephalus. The motor intervention was implemented with the Mastery Motivational Climate in 16 weeks (32 lessons). Opportunities and varied motor station games of locomotor, manupulation and balance were off ered. To evaluate fi ne and gross motor skills, balance and physical fi tness were utilized Bruininks Ozeretzky Tests - Second Edition (BOT-2), Test of Gross Motor Development - Second Edition (TGMD-2); to assess the physical activity levels was used pedometer in 3 classes of interventional program in the pretest and posttest time ; body mass index was used to analyze the nutritional status, classifi ed as the curves of the Center of Disease Control (DCD); to assess the perceived competence was used Pictorial Scale of Perceived Competence and Acceptance. The results of this study, showing positive changes in gross and fi ne motor skills, physical activity levels, perceived motor competence and nutritional status of children. Motor intervention was eff ective in enhancing the development of a child with meningocele....(AU)

Innovation in the planning of V-Y rotation advancement flaps: A template for flap design

Local flaps exhibit excellent color matching that no other type of flap can compete with. Moreover, surgery using a local flap is easier and faster than surgery using a distant or free flap. However, local flaps can be much more difficult to design. We designed 2 templates to plan a V-Y rotation advancement flap. The template for a unilateral V-Y rotation advancement flap was used on the face (n=5), anterior tibia (n=1), posterior axilla (n=1), ischium (n=1), and trochanter (n=2). The template for a bilateral flap was used on the sacrum (n=8), arm (n=1), and anterior tibia (n=1). The causes of the defects were meningocele (n=3), a decubitus ulcer (n=5), pilonidal sinus (n=3), and skin tumor excision (n=10). The meningocele patients were younger than 8 days. The mean age of the adult patients was 50.4 years (range, 19–80 years). All the donor areas of the flaps were closed primarily. None of the patients experienced wound dehiscence or partial/total flap necrosis. The templates guided surgeons regarding the length and the placement of the incision for a V-Y rotation advancement flap according to the size of the wound. In addition, they could be used for the training of residents.

Síndrome de Currarino como enfermedad infrecuente dentro del diagnóstico diferencial de la patología anexial oncológica / Currarino Syndrome as a Rare Disease in the Differential Diagnosis of Oncological Adnexal Pathology

El Síndrome de Currarino se define como la presencia de una tríada característica que asocia: estenosis anal, malformación sacrococcígea y masa presacra. La escasa sintomatología, caracterizada además por su inespecificidad, provoca que en muchas ocasiones el diagnóstico se realice durante la edad adulta y pueda confundirse con patologías ginecológicas, de origen predominantemente oncológico. El diagnóstico mediante pruebas de imagen, se realiza fundamentalmente a través de la resonancia magnética nuclear. La extirpación quirúrgica de la masa presacra unida al tratamiento sintomático del resto de la triada son la base terapéutica de esta infrecuente patología. Presentamos el caso de una paciente de 20 años de edad con estreñimiento crónico y dolor abdominal inespecífico. Es enviada al Servicio de Ginecología por la presencia de una masa de gran tamaño que se supone de origen anexial. Tras el estudio exhaustivo de dicha paciente, se llegó a la conclusión diagnóstica de que dicha tumoración corresponde a un meningocele, asociado a agenesia parcial sacra y estenosis anal; tríada que define al Síndrome de Currarino.

Currarino Syndrome is defined as the presence of a characteristic triad that associates anal stricture, sacrococcygeal malformation and presacral mass defines this syndrome. The scarce symptomology, also characterized by nonspecific symptoms, conditions that in many cases the diagnosis is made in adulthood and can be confused with gynecological pathologies. The diagnosis is made by imaging tests, fundamentally the NMR (nuclear magnetic resonance). The main treatment is the surgical excision of the mass presacra together with the symptomatic treatment of the rest of symptoms. We present the case of a 20-year-old patient with chronic constipation and abdominal pain that is referred to Gynecology due to the presence of a mass that is supposed to be adnexal. After the study of this patient is diagnosed a meningocele, associated with partial sacral agenesis and anal stricture, triad that defines Currarino Syndrome.

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.

MRI is the modality of choice for evaluation of spinal lesions

Introduction: Spine is a longitudinal structure, and precise location of the level of a lesion from clinical examination can be difficult. MRI of spine shows the anatomy of the vertebrae that makes up the spine, as well as the discs, spinal cord and the intervertebral foramina through which the nerves pass. It also allows us to differentiate between healthy tissue and diseased tissue. Materials and methods: This study aimed at diagnosing and following up cases of spinal lesions in the department of Radio diagnosis of SBKS Medical Institute and Research Centre and Dhiraj General Hospital. The study is performed using conventional X-rays and MRI. Results: Maximum numbers of patients were between 41–50 years age group followed by 21-30 and 31-40 years of age group, whereas patients of paediatric (00-10 years) and geriatric (>70 years) age group constituted only 8% patients. Average age of patients was 42.5 years. Lumbar spine was the most commonly affected spine region. Maximum numbers of patients were of degenerative and disc lesions (49%). Conclusion: MRI by virtue of non-invasiveness, lack of radiation hazard and by ability to demonstrate structural changes is investigation of choice for spine and spinal cord pathologies. The ability to image the cord directly rather than indirectly as in myelography, the absence of bone artifact as in computed tomography, and the multiplanar capabilities indicate that MRI is the procedure of choice in the examination of the spinal cord.

Diagnosis and treatment of congenital basal encephaloceles in infants / 中国耳鼻咽喉头颈外科

OBJECTIVE To discuss the diagnosis and endoscopic treatment of congenital basal encephaloceles in infants.METHODS We retrospectively reviewed the clinical data of 6 infants with congenital basal encephaloceles in Beijing Children's Hospital between January 2014 to September 2016. CT and MRI were performed routinely. All patients underwent endoscopic resection of encephaloceles and repair of skull base defects. RESULTS Five patients presented with transethmoidal encephaloceles and one transsphenoidal encephaloceles. All patients underwent endoscopic procedure successfully. There were no complications except for one 7-month old girl who got purulent meningitis. All patients had favorable clinical outcomes during a follow-up of 3 to 29 months.CONCLUSION For infants with persistent nasal obstruction and nasal neoplasms, congenital basal encephaloceles should be considered. Nasal coronary CT and sagital MRI are of paramount importance in the diagnosis of congenital basal encephaloceles in infants. The endoscopic procedure is the safe and effective method for the management of congenital basal encephaloceles in infants.

The value of prenatal ultrasound in diagnosis of fetal meningocele or encephalocele / 重庆医学

Objective To investigate the clinical value of prenatal ultrasound in fetal meningocele and encephalocele.Methods Thirty nine fetuses with meningocele and encephalocele confirmed by prenatal ultrasound and abortion were acquired and their clinical data and sonographic features were retrospectively analyzed.Results Ultrasound screening in 111 620 cases showed 39 fetuses were with meningocele and encephalocele,accounting for 0.35％.Among them,16 cases were diagnosed with meningocele (including 1 case with two bulging parts) and 23 cases with encephalocele.Prenatal ultrasound could clearly detect the location and size fetal skull defect,and bulging features.According to their sonographic features,meningocele or encephalocele was determined.Conclusion Ultrasound could be a reliable prenatal screening method,provide an important basis for clinical intervention and have a significant clinical value in fetal meningocele and encephalocele.

Foetal Ultrasound– A Study of Spina Bifida and Associated Anomalies in Rural Pregnant Women

To study the incidence and various types of associated anomalies and complications on obstetric ultrasound, in rural pregnant women. To reduce the maternal morbidity and mortality by early detection of these congenital neuroectodermal anomalies. To assist the obstetrician in taking decisions regarding the termination or continuation of the pregnancy in relation to the type of malformation and its prognosis. A prospective and retrospective study of spina bifida and its associated anomalies was done on 23,000 rural pregnant women coming to the Santhiram Medical College, Radiology Department for a routine obstetric scan. A total of 19 cases spina bifida were detected of which 2 cases were pure spina bifida without any complication, 14 cases had hydrocephalus and meningocele or myelomeningocele and 2 cases had meningocele without hydrocephalus. One case had anencephaly with an incidence of 1 per 1,111 cases. History of similar anomaly and intake of iron and folic acid tablets were noted. Ultrasound is an excellent modality for the diagnosis and characterisation of these neuroectodermal anomalies. Its multiplanar imaging property along with real-time image visualization makes it an excellent tool for the diagnosis and characterization of these anomalies.

Meningocele sacro anterior que simula quiste de ovario tabicado / Anterior sacral meningocele simulating ovarian cyst baffled

El meningocele sacro anterior es una rara anomalía genética asociada a enfermedades del tejido conectivo como el síndrome de Marfán, síndrome de Loeys-Dietz, la neurofibromatosis tipo 1 y otras. El objetivo del presente trabajo es presentar el caso de un feto con meningocele sacro anterior, inicialmente diagnosticado como un gran quiste de ovario multilobulado, en una paciente con diagnóstico de síndrome de Marfan. Se trata de una herniación del saco dural, a través de agujeros sacros amplios y deformados por ectasia dural, ocupada mayormente por líquido cefalorraquídeo. La punción de estas estructuras o su rotura en el acto operatorio se ha asociado a complicaciones graves e incluso la muerte(AU)

The anterior sacral meningocele is a rare genetic anomaly associated with connective tissue diseases such as Marfan syndrome, Loeys-Dietz syndrome, neurofibromatosis type 1 and others. The aim of this paper is to present the case of a fetus with anterior sacral meningocele, initially diagnosed as a large multilobulated ovarian cyst in a patient diagnosed with Marfan syndrome It is a herniation of the dural sac, through large sacral foramina, and deformed by dural ectasia, occupying mostly by cerebrospinal fluid. Puncture or rupture these structures during surgery has been associated with serious complications and even death(AU)