Diagnóstico y tratamiento de pacientes con vejiga neurogénica en la Unidad Técnica de Cirugía Pediátrica / Diagnosis and treatment of patients with Neurogenic bladder in the Surgery Technical Unit Pediatric

El presente trabajo toma como base el documento: "Manejo Urológico del Mielomeningocele" de las Guías de Atención Pediátrica, del Hospital De Pediatría "Juan P. Garrahan" de la ciudad de Buenos Aires - Argentina; de los autores: Dra. Carol Burek y Dra. Liliana Campmany. En la Unidad Técnica de Cirugía Pediátrica del Hospital de Especialidades Carlos Andrade Marín, se atienden por mes unos 50 a 70 pacientes afectos de vejiga neurogénica desde el nacimiento hasta la adolescencia. Es una enfermedad crónica que requiere un diagnóstico correcto con estudios de imagen y función de la vía urinaria además de un posterior manejo diario por parte de los padres con la guía del médico especialista.

This work is based on the document: "Urological Management of Myelomeningocele" from the Pediatric Care Guidelines of the Hospital De Pediatría "Juan P. Garrahan" of the city of Buenos Aires - Argentina; by the authors: Dr. Carol Burek and Dr. Liliana Campmany. In the Pediatric Surgery Technical Unit of the Carlos Andrade Marín Specialties Hospital, 50 to 70 patients affected by neurogenic bladder from birth to adolescence are treated every month. It is a chronic disease that requires a correct diagnosis with imaging and urinary tract function studies, as well as subsequent daily management by the parents under the guidance of the specialist.

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)

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.

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)

Manejo endoscópico del meningoencefalocele de base de cráneo anterior / Endoscopic management of anterior skull base meningoencephalocele

RESUMEN La fístula de líquido cefalorraquídeo (LCR) corresponde a una comunicación anormal entre el espacio subaracnoideo y la porción neumatizada de la base de cráneo anterior en relación con las cavidades paranasales. Fístulas persistentes requieren reparación quirúrgica por el riesgo de meningitis, abscesos cerebrales y neumoencéfalo asociado. El gold standard es el abordaje extracraneal endoscópico. Uno de los principales inconvenientes es dañar estructuras intracraneanas nobles. La ayuda de tecnologías como la cirugía guiada por imágenes, contribuye a disminuir este problema. A continuación se presentan dos casos clínicos de fístula de líquido cefalorraquídeo en base de cráneo anterior, asociado a meningoencefalocele, intervenidos por cirugía endonasal guiada por imágenes.

ABSTRACT Endoscopic management of anterior skull base meningoencephalocele. The cerebrospinal fluid leak (CSF) is an abnormal communication between the subaracnoid space and the pneumatic portion of the anterior cranial base which is related to the paranasal cavities. The persistent leak requires surgery due to the potential complications such as meningitis, cerebral abscess or pneumoencephalus. Extracranial endoscopic approach is the gold standard procedure. One of the most important risk of the surgery is to damage noble intracranial structures. This situation can be ameliorated by using image guided surgery. We present two cases of CSF in anterior cranial base associated with meningoencephalocele that were treated in our center using nasal image guided endoscopic surgery.

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.

Surgical Outcomes of Pediatric Patients with Asymptomatic Tethered Cord Syndrome

STUDY DESIGN: A retrospective cohort study. PURPOSE: To examine the validity of prophylactic surgery for children with tethered cord syndrome (TCS). OVERVIEW OF LITERATURE: Prophylactic surgery for pediatric patients with TCS remains controversial. METHODS: We retrospectively analyzed the surgical outcomes of 14 children (nine boys and five girls) with asymptomatic TCS who were surgically treated at Hokkaido University Hospital between 1989 and 2015. RESULTS: The median age at the time of initial surgery for asymptomatic TCS was 28.6 months (range, 0–66 months). The median final follow-up period was 142 months (range, 7–232 months). Of the 14 children with asymptomatic TCS, 12 had lumbosacral lipoma and two had meningocele. According to the classification of spinal lipoma, two children had dorsal type, four had caudal type, two had transitional type, and four had filar type. There were no children with lipomyelomeningocele. All children were free of neurological symptoms until 94 months after the initial surgery. Subsequently, one child exhibited delayed neurological deficits and underwent a second surgery because of motor and sensory disturbances; slight sensory disturbance was noted at the final follow-up examination. Another child later showed bowel and bladder dysfunction. However, a second surgery was not performed for this child because his motor and sensory functions were normal; hence, we chose to avoid nerve injury in the case of dissecting adhesion. CONCLUSIONS: All 14 children with asymptomatic TCS were free of neurological symptoms until 94 months after the initial surgery. However, two children exhibited delayed neurological deficits at 94 months and 177 months. We believe that prophylactic surgery for asymptomatic TCS is effective for a certain period. However, because the natural history of TCS is poorly understood, strict follow-up after surgery is necessary.

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.

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.

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)

A Case of Mucocele Occurred in Nasal Septum / 대한이비인후과학회지

Mucoceles are expansile, encapsulated, benign cystic lesions with the potential for adjacent bony remodeling and resorption. Paranasal mucoceles predominantly develop in the frontal sinuses (60%), followed in frequency by the ethmoidal (20-30%), maxillary (10%), and sphenoid (2-3%) sinuses. Nasal septal mucoceles develop in only very seldom cases. Septal mucoceles might develop from infected nasal septum or trauma. In the differential diagnosis of a midline septal mass, dermoid cyst, encephalocele, meningocele or intraseptal abscess should be considered. We present a case of nasal septal mucocele, which was managed by endoscopic excision and marsupialization.

Temporal Bone Meningocele Presenting as a Pulsatile Mass of the External Auditory Canal / 대한이비인후과학회지

Meningocele is a protrusion of meninges through a defect in the skull base. It is a rare but potentially life-threatening condition requiring surgery. We present a case of 59-year-old woman complaining of persistent otorrhea of the right ear and a pulsating cystic mass occupying the external auditory canal in her right ear. The patient had undergone right canal wall up mastoidectomy and tympanoplasty about 30 years ago. Radiological evaluations revealed a bony defect at the tegmen tympani and tegmen mastoideum, with a cystic mass filling this defect and the external auditory canal, suggesting temporal bone meningocele. The meningocele was resected and the bony defect of tegmen was successfully repaired via combined transmastoid and middle cranial fossa mini-craniotomy approach.

Meningocele sacro anterior y estreñimiento / Anterior sacral meningocele and constipation

Se presenta el caso clínico de una mujer de 25 años con estreñimiento crónico en quien inicialmente se confundió el diagnóstico con enfermedad ginecológica versus tumor pélvico; en laparotomía exploratoria se evidencia lesión quística dependiente del sacro en su cara anterior por lo que se recurre a toma de imágenes diagnósticas con tomografía computarizada donde se observa meningocele sacro anterior, y posteriormente resonancia magnética para descartar otras lesiones asociada. Se plantea manejo quirúrgico con abordaje posterior para resección de cele y laminectomía con buenos resultados postoperatorios. En control de los 3 meses se encuentra paciente sin déficit neurológico, sin pérdida de sensibilidad en región perineal ni alteraciones de su sistema nervioso vegetativo.

A case is presented of a 25 year-old woman with chronic constipation in whom the diagnosis was initially confused with a gynaecological disease or a tumour. The exploratory laparotomy showed evidence of a cystic lesion hanging from the anterior side of the sacrum. Diagnostic imaging with computed tomography was performed in which an anterior sacral meningocele was observed. Magnetic resonance was then used to rule out any other associated lesions. It was decided to treat it surgically with a posterior approach for resection and laminectomy of the meningocele, with a good post-surgical outcome. In the follow-up at 3 months the patient showed no neurological deficit, no loss of sensitivity in the perineal region, and no changes in her autonomic nervous system.

Clinical Features and Management of a Median Cleft Lip

BACKGROUND: Median cleft lip is a rare anomaly consisting of a midline vertical cleft through the upper lip. It can also involve the premaxillary bone, the nasal septum, and the central nervous system. In our current report, we present the clinical features of 6 patients with a median cleft lip and their surgical management according to the accompanying anomalies. METHODS: From December 2010 to January 2014, 6 patients with a median cleft lip were reviewed. Five of these cases underwent surgical correction; alveolar bone grafting was performed in a patient with a median alveolar cleft. The surgical technique included inverted-U excision of the upper lip and repair of the orbicularis oris muscle. The mean follow-up period was 20.4 months (range, 7.4-44.0 months). RESULTS: The study patients presented various anomalous features. Five patients received surgical correction, 4 with repair of the median cleft lip, and one with iliac bone grafting for median alveolar cleft. A patient with basal sphenoethmoidal meningocele was managed with transoral endoscopic surgery for repair of the meningocele. Successful surgical repair was achieved in all cases with no postoperative complications. CONCLUSIONS: Relatively mild forms of median cleft lip can be corrected with inverted-U excision with good aesthetic outcomes. In addition, there is a broad spectrum of clinical features and various anomalies, such as nasal deformity, alveolar cleft, and short upper frenulum, which require close evaluation. The timing of the operation should be decided considering the presence of other anomalies that can threaten patient survival.

Spontaneous Extracranial Vertebral Artery Dissection in a Neurofibromatosis 1 Patient with Bilateral Intrathoracic Spinal Meningoceles around the Scoliosis: Report of an Autopsy Case / 대한법의학회지

Neurofibromatosis 1 (NF1) is a common autosomal dominant disorder that causes several systemic diseases. Many studies have reported that NF1 is associated with intrathoracic meningoceles and scoliosis. The incidence of vertebral artery dissection is estimated to be 1-1.5 per 100,000 population. We experienced an autopsy case of massive intrathoracic hemorrhage due to spontaneous vertebral artery dissection in a patient with NF1, who had intrathoracic spinal meningoceles and scoliosis. A 47-year-old man was found dead at his home in the morning. He had a history of NF1 including numerous cutaneous neurofibromas and hyperpigmented macules, scoliosis, and deformity of the leg. The autopsy revealed the dissection and rupture of the left vertebral artery, and a pseudocyst that had formed due to arterial leakage on the wall of the meningocele on the left side. The pseudocyst had eventually ruptured and leaked blood, resulting in a massive hemothorax on the left side. Thus, it was revealed that the patient had suffered from NF1-associated intrathoracic meningoceles and scoliosis, and we concluded that the cause of his death was a massive hemothorax on the left side, caused by the dissection and rupture of the left vertebral artery.

Giant Intrathoracic Meningocele and Breast Cancer in a Neurofibromatosis Type I Patient

Intrathoracic meningoceles are relatively rare entities found in patients with neurofibromatosis type I (NF1). Given that both the BRCA1 and NF-1 genes are located on the same long arm of chromosome 17, one would expect concurrence of neurofibromatosis and breast cancer. However, incidence of such co-disorders is very rare in the literature. Here, the authors report a case of a 50-year-old female patient with NF-1 and concurrent cancer of the left breast, who had a huge bilobulated intrathoracic meningocele with thoracic dystrophic scoliosis, treated surgically via a posterior-only approach for the meningocele and spinal deformity in the same setting.

Malformación del cordón espinal hendido con expresión clínica en el período neonatal / Split spinal cord malformation seen at the neonatal stage

La malformación del cordón espinal hendido es una forma rara de disrafia espinal oculta, se reporta que representa el 3 % de los disrafismos ocultos. El mayor porcentaje de ellos es de localización lumbar. En la literatura cubana solo tenemos referencia de 2 pacientes publicados, una adulta y otro caso pediátrico. Se reporta un recién nacido remitido a nuestro centro por presentar meningocele occipital. Se detecta la presencia de una fosita en región sacro-coccígea, hipotonía muscular en miembro inferior derecho, pie varo con poca movilización del miembro, e incontinencia de esfínter vesical y anal. Los estudios de imagen demuestran la presencia de 2 hemimédulas a nivel lumbar, por lo que se confirma que el recién nacido presenta un síndrome de malformación del cordón espinal hendido, una entidad poco común. Presenta, además, la particularidad de haber sido diagnosticada en el período neonatal por exhibir desde su nacimiento manifestaciones clínicas, como consecuencia de esta entidad, aspecto también relevante, pues, habitualmente, la afección expresa la sintomatología más tarde en la vida, o se mantiene asintomática.

Split spinal cord malformation is a rare form of occult spinal dysraphia and is reported in 3 % of occult dysraphisms which are mainly located in the lumbar region. The Cuban literature made reference to two patients with this condition, an adult and a child. This is the case of a male newborn referred to our center because he presented with occipital meningocele. The examination revealed a small fossa in the sacrococcygeal region, muscular hypotonic in his right lower limb, varus foot and little movement as well as anal and vessical sphincter incontinence. Imaging studies show the presence of two hemicords at the lumbar region, so it is confirmed that this newborn infant had split spinal cord malformation syndrome, which is an uncommon entity. It is interesting to note that this malformation was diagnosed at the neonatal phase because of its clinical manifestations, a relevant aspect since this illness generally shows its symptoms in later life or remains asymptomatic.

Secuencia de regresión caudal: caso clínico-radiológico / Caudal regression sequence: clinical-radiological case

El síndrome de regresión caudal es una malformación congénita poco frecuente que abarca un gran espectro de formas de presentación. Caracterizado por el compromiso musculoesquelético caudal, se puede asociar a defectos neurológicos, gastrointestinales, renales y genitourinarios. Aunque su etiología aún no se encuentra aclarada, se ha asociado a la presencia de diabetes materna y a mutaciones en el gen homeobox HBLX9. Su diagnóstico se basa en un buen estudio ecográfico prenatal, un examen físico detallado y estudio imagenológico posnatal con radiografía y/o resonancia magnética. El síndrome de regresión caudal requiere un manejo multidisciplinario en el cual el control metabólico de la diabetes gestacional constituye la mejor medida preventiva disponible en la actualidad. Se presenta el caso e imágenes de un recién nacido de término de sexo masculino, hijo de madre diabética pregestacional con mal control metabólico y diagnóstico ecográfico prenatal de malformación de columna lumbar, huesos iliacos y extremidades inferiores. Nace en buenas condiciones y se confirma el diagnóstico de síndrome de regresión caudal mediante estudio radiográfico y resonancia magnética compatibles.

Caudal regression syndrome is an uncommon congenital malformation that includes a wide spectrum of clinical presentations. Characterised by caudal musculoskeletal compromise, it can be associated to neurological, gastrointestinal, renal and genitourinary defects. Although the specific aetiology has not been clarified, it has been associated with the presence of maternal diabetes and mutations in homeobox gene HBLX9. Its diagnosis is based on a good prenatal ultrasound detection, detailed physical examination, and post-natal imaging study using radiography and magnetic resonance. Caudal regression syndrome requires multidisciplinary management, and it seems that good metabolic control of gestational diabetes constitutes the best preventive measure available. We present the clinical case and images of a male term newborn, born to a pregestational diabetic mother with poor metabolic control and a prenatal ultrasound diagnosis of lumbar spine, iliac bones and lower limbs malformation. Born in good conditions, the diagnosis was confirmed using X-rays and magnetic resonance.

Tumoração retro-orbitária sugestiva de meningocele da bainha do nervo óptico / Retro-orbital tumor suggestive of optic nerve sheath meningocele

Meningocele da bainha do nervo óptico é uma condição extremamente rara, com poucos casos relatados na literatura. Exames de imagem revelam alargamento tubular-cístico do nervo óptico, com espessamento do mesmo. Os sintomas são muitas vezes relacionados com o comprometimento do nervo, ocasionando diminuição de lenta a acelerada da acuidade visual. O tratamento cirúrgico precoce por meio da descompressão da bainha do nervo óptico pode proporcionar melhora da função visual. Apresenta-se um caso de paciente com as características clínicas e radiológicas desta condição patológica rara. Paciente masculino, atendido no serviço com queixa de proptose do olho direito (OD) desde nascimento, com progressão nos últimos meses associada à dor. Melhor acuidade visual corrigida de conta dedos a 50 cm do OD. Olho esquerdo sem anormalidades. Ressonância Magnética de OD demonstrou formação expansiva cística de limites definidos em situação intraconal em órbita direita, em íntima relação com nervo óptico, determinando compressão, deformidade e deslocamento anterior do bulbo ocular, além de apresentar sinal semelhante ao líquor em todas as sequências obtidas. Suscitou-se hipótese diagnóstica de meningocele da bainha do nervo óptico direito e o paciente foi encaminhado para cirurgia descompressiva.

Meningocele of the optic nerve sheath is an extremely rare condition with a few cases reported in literature. Image studies reveal tubularcystic enlargement of the optic nerve although with the same thickness. Symptoms are often related to the involvement of the optic nerve, leading from slow to accelerated decreasing of the visual acuity. The early surgical treatment is the decompression of the optic nerve sheath, which it could provide improvement of visual function. We are presenting a case report of a patient who showed clinical and radiological signs of this rare pathological condition. Male patient attended at service complaining of proptosis of right eye (OD) since birth, in progress during the last months associated to stabbing pain. Best corrected visual acuity (BCVA) of OD was movements at 50 cm far; OS showed no abnormalities. Nuclear Magnetic Resonance of the OD showed expansive formation with cystic aspect, defined boundaries, located in an intraconal situation on the right orbit cavity and in a closing anatomical relationship to the optic nerve, inducing compression, deformity and anterior displacement of this eye besides presenting signal similar to spine liquor in all sequences obtained. The first hypothesis was meningocele of right optic nerve sheath. Then, patient was referred for surgical decompression.

Eyelid liquoric fistula secondary to orbital meningocele

Liquoric fistula (LF) is defined as the communication of the subarachnoid space with the external environment, which main complication is the development of infection in the central nervous system. We reported the case of a patient with non-traumatic eyelid liquoric fistula secondary to orbital meningocele (congenital lesion), which main clinical manifestation was unilateral eyelid edema. Her symptoms and clinical signs appeared in adulthood, which is uncommon. The patient received surgical treatment, with complete resolution of the eyelid swelling. In conclusion, eyelid cerebrospinal fluid (CSF) fistula is a rare condition but with great potential deleterious to the patient. It should be considered in the differential diagnosis of unilateral eyelid edema, and surgical treatment is almost always mandatory.

Fístula liquórica (FL) é definida como a comunicação do espaço subaracnóide com o ambiente externo, cuja principal complicação é o desenvolvimento da infecção no sistema nervoso central. Relatamos o caso de um paciente com fístula liquórica palpebral não traumática secundária à meningocele orbitária (lesão congênita) sendo que a principal manifestação clínica foi o edema palpebral unilateral. Os sintomas e sinais clínicos da paciente apareceram apenas na idade adulta, o que é incomum. A paciente recebeu tratamento cirúrgico, com resolução completa do edema palpebral. Concluimos que fístula liquórica palpebral é uma condição rara, mas com grande potencial deletério para o paciente. Deve ser sempre considerarada no diagnóstico diferencial do edema da pálpebra unilateral, e o tratamento cirúrgico é quase sempre obrigatório.