Diagnosis of fetal closed spina bifida without subcutaneous mass with prenatal ultrasound / 中华围产医学杂志

Objective:To investigate the prenatal ultrasound findings and clinical prognosis in fetal closed spina bifida without subcutaneous mass.Methods:This retrospective study included nine fetuses diagnosed with closed spina bifida without subcutaneous mass by prenatal ultrasound in Women's Hospital of Jiangnan University from October 2016 to February 2022. Descriptive analysis was used to summarize the ultrasonographic features, MRI findings, genetic testing results, pregnancy outcomes and follow-up data.Results:The diagnosis of fetal closed spina bifida without subcutaneous mass was confirmed in all cases by MRI, X-ray examination or ultrasound after termination or neonatal surgery. Four cases presenting with various degrees of sacral vertebra defects had caudal regression syndrome complicated by other malformations. Two cases had dermal sinus, presenting with subcutaneous hypoechoic sinus tract connecting to the spinal canal. Lipoma terminalis were found in two fetuses who presented with intraspinal hyperechoic mass. One fetus with diastematomyelia showed short linear strong echoes and double spinal cord echoes in the spinal canal with butterfly vertebrae. The location of the conus medullaris was lower in seven cases and normal in one fetus. The other one case had unclear position of the conus medullaris. No postoperative complications occurred in the two cases (one with dermal sinus and one with lipoma terminalis) receiving postnatal surgery and both infants grew and developed normally. Fetal death occurred in one case and six pregnancies were terminated.Conclusions:Closed spina bifida without subcutaneous mass typically has ultrasonographic features. Detection of spinal cord echoes in the spinal canal can improve the prenatal detection rate. Whether it is complicated with malformation affects its prognosis. Prenatal ultrasound diagnosis may provide information for prognosis consultation and postpartum treatment.

Disrafismo Espinal Oculto: Reporte de Caso

RESUMEN El disrafismo espinal oculto incluye alteraciones en la fusión del tubo neural, en el que la lesión está cubierta por la epidermis, su incidencia estimada es de 0,5 a 5 casos por cada 1000 nacidos vivos. Los estigmas cutáneos pueden ser el único signo de la patología, los cuales pueden no ser muy evidentes. Reporte de caso de mujer de 36 años que acudió a consulta por cuadro de dolor lumbar de inicio insidioso, de 3 semanas de duración, que con el paso de los días se fue intensificando, irradia a miembros inferiores, cede parcialmente con analgésicos comunes y se acompaña de parestesias en ambos miembros. Se solicitó TAC y RMN que reveló anomalía anatómica sacrococcígea caracterizada por abertura de canal raquídeo, ausencia de cóccix, situación baja del cono medular, siringomielia e hiperintensidad a nivel del filum terminal sugestivo de lipoma. Se confirmó el diagnóstico de espina bífida oculta a nivel sacro, con lipoma del filum terminal, médula anclada con situación baja del cono medular y siringomielia asociada. Actualmente es controversial el beneficio cirugía profiláctica en pacientes asintomáticos, siendo preferible una conducta conservadora con estrecho seguimiento urológico y neurológico, entre las medidas de prevención se recomienda evitar el ejercicio físico extenuante, disminuir carga de columna lumbar y reeducación postural.

ABSTRACT Occult spinal dysraphism includes alterations in the fusion of the neural tube, in which the lesion is covered by the epidermis, its estimated incidence is 0.5 to 5 cases per 1000 live births. Cutaneous stigmata may be the only sign of pathology, which may not be very obvious. Case report of a 36-year-old woman who came to the clinic for insidious onset lumbar pain, lasting 3 weeks, which intensified over the days, radiating to the lower limbs, partially subsided with common analgesics and accompanied by paresthesias in both limbs. CT and MRI are requested, revealing sacrococcygeal anatomical abnormality characterized by spinal canal opening, absence of coccyx, low location of the medullary cone, syringomyelia, and hyperintensity at the level of the terminal filum suggestive of lipoma. The diagnosis of occult spina bifida at the sacral level was confirmed, with a lipoma of the terminal filum, an anchored cord with a low location of the medullary cone and associated syringomyelia. Currently, the benefit of prophylactic surgery in asymptomatic patients is controversial, being preferable a conservative behavior with close urological and neurological monitoring, among the prevention measures it is recommended to avoid strenuous physical exercise, reduce lumbar spine load and postural reeducation.

Mucocele frontal: reporte de caso

RESUMEN Los mucoceles de los senos paranasales son tumoraciones expansivas que muestran diferentes presentaciones y localizaciones. Son tumores benignos de crecimiento lento, pero debido a la expansión que presentan causan la erosión y desplazamiento de las estructuras adyacentes, la edad de presentación varía de los 40 a los 60 años, sin predilección por el sexo. Aproximadamente en el 60-65 % de casos afectan a los senos paranasales frontales. La clínica de presentación es variable y depende mucho del tamaño del mucocele, así como de su localización y tiempo de evolución, pueden permanecer asintomáticos por mucho tiempo y debutar con alguna complicación; en los de localización frontal los hallazgos más frecuentes son cefalea frontal, asimetría facial, alteraciones a nivel ocular como diplopía, proptosis ocular, disminución de la movilidad ocular, reducción de la agudeza visual, incluso pudiendo llegar a pérdida de la visión total en el ojo afecto; la expansión intracraneal también puede llevar a fístulas de líquido cefalorraquídeo, meningitis y abscesos cerebrales. En el diagnóstico es fundamental solicitar el par radiológico de tomografía y resonancia magnética con contraste para determinar la extensión real del mucocele, la afectación de las estructuras adyacentes y optar por la mejor terapéutica posible. Esta patología es de manejo quirúrgico, el objetivo es abrir la cavidad del mucocele para lograr una adecuada ventilación y drenaje del seno afecto, actualmente la cirugía endoscópica nasal o combinada es la terapéutica más empleada.

ABSTRACT Mucoceles of the paranasal sinuses are expansive tumors that show different presentations and locations. They are benign tumors of slow growth, but due to their expansion they cause erosion and displacement of adjacent structures. The age of presentation varies from 40 to 60 years old, with no gender predilection. Approximately 60-65% of cases affect the frontal paranasal sinuses. The clinical presentation is variable and depends on the size of the mucocele, as well as its location and time of evolution, they can remain asymptomatic for a long time and debut with some complication; In frontal mucoceles the most frequent findings are frontal headache, facial asymmetry, ocular alterations such as diplopia, ocular proptosis, decreased ocular mobility, reduced visual acuity, and even total loss of vision in the affected eye; intracranial expansion can also lead to cerebrospinal fluid fistulas, meningitis and brain abscesses. In the diagnosis it is essential to request the radiological pair of tomography and magnetic resonance with contrast to determine the real extension of the mucocele, the affectation of the adjacent structures and to opt for the best possible therapy. This pathology is of surgical management, the objective is to open the mucocele cavity to achieve an adequate ventilation and drainage of the affected sinus, currently the nasal endoscopic or combined surgery is the most used therapy.

Meningocele sacro anterior gigante y síndrome de Currarino incompleto en paciente adulta: reporte de un caso

Anterior sacral meningocele is a protrusion of the dural sac through a bone defect in the sacrum anterior wall. It can occur in isolation or be associated with other malformations, such as the Currarino syndrome, which is part of the classic triad together with hemisacrum and anorectal malformation, although it has great variability. This is the case of an adult woman with chronic constipation, recurrent urinary infection and marked abdominal distension, diagnosed with giant anterior sacral meningocele and incomplete Currarino syndrome. The patient underwent a sacral laminectomy and thecal sac ligation at the level of the bone defect. This article describes this rare type of occult spinal dysraphism as well as the surgical technique used.

A Case of Lumbar Infantile Hemangioma (SACRAL Syndrome) Accompanied by Spinal Anomaly and Dermal Sinus / 대한피부과학회지

Infantile hemangioma (IH) usually presents solely as a cutaneous manifestation, and rarely accompanies diverse anomalies such as spinal dysraphism. A 2-month-old girl presented with IH on her lumbar skin as a coin-sized red plaque with adjacent depressed skin and a child-palm-sized red plaque on her left ankle since birth. Considering the coexistence of IH and depressed skin on the midline in her lumbosacral area, magnetic resonance imaging of her spine was performed, which showed intraspinal/dermal vascular tumors with spina bifida occulta at the 12th thoracic vertebrae level. Furthermore, no neurologic deficits were observed. She has been taking oral propranolol with topical timolol to prevent neural complications and the lesions clinically improved. However, additional surgery for the intraspinal lesions was considered due to urination/defecation abnormalities since she was 13 months of age. In cases of midline IH, particularly with additional skin lesions, appropriate imaging studies to identify accompanying anomalies should be performed, and referrals to neurosurgical specialists should be considered.

Correlation between pina bifida occulta and functional defecation abnormality among middle-aged and elderly people / 重庆医学

Objective To investigate the relationship between spina bifida occulta in lumbasacral portion and functional defe-cation abnormality among middle-aged and elderly people.Methods The cross-sectional and cluster random sampling survey meth-od was adopted to select the residents aged 45-90 years old in 7 communities of Zhengzhou City as the respondents.All respond-ents underwent the physical examination and lumbosacral digital radiography(DR)examination in the physical examination center of the First Affiliated Hospital of Zhengzhou University,and filled the related questionnaire about defecation abnormality.The rela-tionship between SBO and functional defecation abnormality among middle-aged and elderly people was studied by diagnosing and analyzing the functional constipation(FC)and functional incontinence(FC).Results The effective sample amounts were 1 057 ca-ses,including 497 males and 560 females,167 cases of SBO(86 males and 81 females).The morbidity rate of functional defecation abnormality was 26.02%(275/1 057),23.34%(116/497)in males and 28.39%(159/560)in females.Among 275 cases of functional defecation abnormality,there were 72 cases of complicating SBO.The Logistic regression analysis results showed that age,SOB,physical activity status,diet and living habits,education level and psychological factors were the risk factors for functional defecation abnormality (P<0.05),while there was no relationship between between past-history of stroke and functional defecation abnormality(P>0.05).Con-clusion SBO may be one of risk factors for functional defecation abnormality among middle-aged and elderly people.

Spina bifida occulta in prenatal ultrasound scan / 中华围产医学杂志

Objectives To summarize and analyze the characteristics ofspina bifida occulta in prenatal ultrasound scan in order to improve the accuracy of diagnosis.Methods Sixteen singleton pregnant women with fetal spina bifida occulta who were diagnosed in the Ultrasonography Department of Dalian Maternal and Child Health Hospital from January 2014 to April 2015,were enrolled in this study.Diagnosis was made based upon the abnormalities found in the spinal column of fetus during routine ultrasound scan,followed by a close examination on the fetal spinal column and the position of conus medullaris by using multiple scan.Descriptive analysis was used to summarize the characteristics of spina bifida occulta in ultrasonic images.Results Among the 16 cases,12 had subcutaneous mass (nine cases had follicle-like anechoic mass and three cases had masses with strong echoes).The other four cases without subcutaneous mass manifested signs of disappeared physiological curvatures or disordered arrangement of spinal column,angulation deformity or scoliosis,or asymmetry in ossification centers of spinal column on both sides of lesions and lowered position of conus medullaris.Lemon shaped head and banana shaped cerebellum were seen in one case,while the other 15 cases were found no cerebral abnormalities.Eight cases had tethered cord (the position of conus medullaris was lower than the second lumber vertebra),six cases had unclear position of conus medullaris and the other two were normal.Diagnoses for all of the 16 cases were confirmed by MRI after delivery or autopsy or neonatal operation.Conclusions Abnormalities such as subcutaneous mass and tethered cord observed in prenatal ultrasound scan are significant indicators for suspected closed spinal dysraphism and further multiple scan is required to confirm the diagnosis.

Prevalence of Spina Bifida Occulta and Its Relationship With Overactive Bladder in Middle-Aged and Elderly Chinese People / 대한배뇨장애요실금학회지

PURPOSE: To investigate the prevalence of spina bifida occulta (SBO) and its relationship with the presence of overactive bladder (OAB) in middle-aged and elderly people in China. METHODS: A cross-sectional community-based survey was carried out at 7 communities in Zhengzhou City, China from December 15, 2013 to June 10, 2014, where residents aged over 40 years were randomly selected to participate. All of the participants underwent lumbosacral radiographic analysis and relevant laboratory tests. A questionnaire including basic information, past medical history and present illness, and the OAB symptom score was filled out by all participants. Chi-square tests and logistic regression were used for data analysis with a P-value of 0.05). In men, age, SBO, and constipation were risk factors for OAB (P0.05). In women, age, SBO, and HCI were risk factors for OAB (P0.05). CONCLUSIONS: The prevalence of SBO is high and it is related to OAB in middle-aged and elderly people in China.

Disostose espôndilo-costal associada a defeitos de fechamento do tubo neural / Spondylocostal dysostosis associated with neural tube defects

OBJETIVO: Salientar a relação dos defeitos de fechamento do tubo neural com a disostose espôndilo-costal (DEC) por meio da descrição de três pacientes. DESCRIÇÃO DOS CASOS: Paciente 1: menina branca, 22 meses, nascida com mielomeningocele lombar. Na avaliação, apresentava hipotonia, baixa estatura, dolicocefalia, fendas palpebrais oblíquas para cima, pregas epicânticas e tronco curto com tórax assimétrico. A avaliação radiográfica revelou hemivértebras múltiplas, vértebras em borboleta e fusão e ausência de algumas costelas. Paciente 2: menina branca, 22 meses, com moderado atraso do desenvolvimento neuropsicomotor, baixa estatura, olhos profundos, pregas epicânticas, pescoço e tronco curtos com assimetria do tórax, abdome protruso, hemangioma plano na altura da transição lombossacra e fosseta sacral profunda no dorso. A avaliação radiográfica identificou hemivértebras, fusão incompleta de vértebras e vértebras em borboleta, malformações de costelas e espinha bífida oculta em L5/S1. Paciente 3: menina branca, 9 dias de vida, com fendas palpebrais oblíquas para cima, ponte nasal alargada, orelhas baixo implantadas e rotadas posteriormente, tronco curto, tórax assimétrico e meningocele tóraco-lombar. A avaliação radiográfica evidenciou hemivértebras, malformação e ausência de algumas costelas e agenesia diafragmática à esquerda. A tomografia computadorizada de encéfalo mostrou estenose de aqueduto. COMENTÁRIOS: Vários defeitos de fechamento do tubo neural, de espinha bífida oculta a grandes mielomeningoceles, são observados em pacientes com DEC, indicando que tais pacientes devem ser cuidadosamente avaliados quanto à possível presença desses defeitos.

OBJECTIVE: To highlight the relationship between neural tube defects and spondylocostal dysostosis (SCD) through the description of three patients. CASES DESCRIPTION: Patient 1: white girl, 22 months old, born with a lumbar meningomyelocele. At evaluation, she presented hypotonia, short stature, dolichocephaly, upslanting palpebral fissures, bilateral epicanthal folds, and short trunk with an asymmetric thorax. Radiographic examination showed multiple hemivertebrae, butterfly vertebrae, fusion and absence of some ribs. Patient 2: white girl, 22 months old, with moderate neuropsychomotor delay, short stature, deep set eyes, bilateral epicanthal folds, short neck and trunk with an asymmetric thorax, protruding abdomen, hemangioma at the level of lumbosacral transition and deep sacral dimple. The radiographic evaluation showed hemivertebrae, incomplete fusion of vertebrae and butterfly vertebrae, costal malformations and spina bifida occulta in L5/S1. Patient 3: white girl, nine days old, with upslanting palpebral fissures, broad nasal bridge, anteverted nostrils, low-set and posteriorly rotated ears, short trunk with asymmetric thorax, and thoracolombar meningocele. Radiographic evaluation showed several hemivertebrae, malformation, absence of some ribs, and diaphragmatic agenesia at left. Brain tomography showed an aqueductal stenosis. COMMENTS: Several neural tube defects, from spina bifida occulta to large meningomyelocele, are observed in patients with SCD. Thus, these patients should be carefully evaluated regarding the possible presence of such defects.

Treatment of lumbar spondylolisthesis with spinal bifida occulta / 中国矫形外科杂志

Objective To approach the treatment principle of lumbar spondylolisthesis with spina bifida occulta. Methods Twenty-six patients(male19,female 7,average 23.2 years old)with spondylolisthesis and spina bifida occulta were analyzed retrospectively.All cases were evaluated by radiological examinations including X-rays,computed tomography,magnetic resonance image.Based on the radiological results,the degeneration of intervertebual disc were varied by Ⅰ~Ⅴ types.Meyerdin’s score was used to evaluate the severe slip of the body of spondylolysis.At same time spina bifida occulta was divided into 4 models as follows,type A meant that the semi-lamina of sacrum was hypoplasia and still linked with spinous process;type B meant that the both sides of the lamina of sacrum was hypoplasia and the spinous process was free;type C meant that the lamina of sacrum was absent;type D meant that the spina bifida occulta was companied by other deformities such as the round formation of the end-plate of sacrum,the deformity of the transverse process of L5. Results The modality of the operations included 9 cases in single-vertabra fixation,13 cases in single-segment fixation,4 cases in two-segment fixation.All patients had been follow-up for 6~37 months(average 11.2 months).The effect of treatment was also obtained(8 in excellent,13 in good,5 in fair). Conclusions As for how to do with spondylolisthesis with spina bifida occulta(SBO),the type of SBO,degeneration scores of the disc and the degree of the slip of spondylolysis should be taken into consideration.

Clinical Study of Combined Acupuncture and Tuina in Treating Enuresis Following Occult Cleft Spine / 针灸推拿医学（英文版）

To observe the clinical efficacy of combined acupuncture and Tuina in the treatment of enuresis following occult cleft spine and seek quantified indexes for result assessment, 40 subjects were treated by above methods and B-ultrasonically examined before and after treatment to determine the capacity of bladder and the residual urine inside it. The total effective rate was 90%; there was a difference of the capacity of bladder between before and after treatment (P＜0.05); 11 cases suffered from residual urine, and there was also significant difference of residual urine between before and after treatment (P＜0.01). It is revealed that this method can increase the capacity of bladder and diminish residual urine.

Hair removal with intense pulsed light in hirsutism of spina bifida occulta / 中华医学美学美容杂志

Objective To evaluate the hair-removal effect of intense pulsed light (IPL) on hirsutism of spina bifida occulta. Methods 8 patients with hirsutism of spina bifida occulta were treated 3 to 5 times, at 2 month intervals, with ELITE plus IPL. Its wavelength was 610~1000 nm, and spot size was 50 mm ? 10 mm. The macro pulse was composed of a series of micro pulses with equal intervals. The micro pulse duration was 5 ms, the number of micro pulse was 4-15, the interval of micro pulse (delay) was 2~20 ms, and the fluence was 22.3～38.3J/cm2. Results All of the patients were well tolerant under no anesthesia. The hairs were mostly or fully removed after 3 to 5 courses of treatment. Routine washing could be done and bandaging was not applied after treatment. There was no blister, infection, hyperpigmentation and scarring. Little vellus hair regrowth was observed after a 6~12 month follow-up. Conclusions IPL is an ideal method to depilate hirsutism of spina bifida occulta because of its credible effect, simple operation, rapid treatment and no serious complication.

Single tubular type of diastematomyelia:a retrospective study of 23 cases / 中华骨科杂志

Objective To analyse the diagnosis and treatment of the single tubular type of diastematomyelia. Methods Clinical scoring and posterior tibial nerve cortical somatosensory evoked potential (PTNCSEP) were performed in 23 cases to define surgical indications and investigate the results of treatment. Results Seven cases without clinical symptoms and 11 cases without progressive neural deficit showed no significant change in terms of clinical scoring and PTNCSEP P40 latent period; while other 5 cases with progressive neural deficit improved after the surgical intervention, and operative findings confirmed that there were fibrous septum or band and other malformations. Conclusion Patients with progressive neural deficit need surgical intervention while those without progressive neural deficit and clinical symptoms only need conservative treatment and routine follow-up.

Urodynamic evaluation for patients with tethered spinal cord and the treatment strategy / 中华泌尿外科杂志

Objective To study effects of tethered spinal cord on functions of bladder and urethra. Methods Thirty six patients with tethered spinal cord were evaluated by video urodynamic studies. Filling phase function of bladder was evaluated by compliance of bladder and the presence of vesicoureteral reflux; voiding phase function of bladder was evaluated by maximal detrusor pressure; the synergy between detrusor and external urethral sphincter and continence of urethra were evaluated by voiding study with synchronous X ray image and pressure flow plot. Results 50% patients was diagnosed as detrusor areflexia with low compliance bladder, which was the main type of neurogenic bladder for patients with tethered spinal cord. And 22% was diagnosed as detrusor hyperreflexia. The incidence (83%)of damage of kidney function in patients with detrsusor areflexia and low compliance was significantly higher than patients with detrusor hyperreflexia ( P

Faun Tail

We report herein a rare and grotesque case of a 19-year-old male with faun tail on the lumbosacral area of the back, presented from birth. The lesion was a 10 × loan sized patch with the circumscribed tuft of coarse terminal hairs about 10 to 25 an in length downward like a horse-tail. In the center of the patch was a 4 × 3cm sized brown macule in which was a 2 × lan scar. The skin biopsy from the brown macule revealed mild hyperkeratosis with basilar hyperpigmentation. Lumbar radiography showed findings of spina bifida occulta affected from L-4 to total sacral segments. There was mild saddle-hypoesthesia in the neurologic study.

Faun Tail

We report herein a rare and grotesque case of a 19-year-old male with faun tail on the lumbosacral area of the back, presented from birth. The lesion was a 10 × loan sized patch with the circumscribed tuft of coarse terminal hairs about 10 to 25 an in length downward like a horse-tail. In the center of the patch was a 4 × 3cm sized brown macule in which was a 2 × lan scar. The skin biopsy from the brown macule revealed mild hyperkeratosis with basilar hyperpigmentation. Lumbar radiography showed findings of spina bifida occulta affected from L-4 to total sacral segments. There was mild saddle-hypoesthesia in the neurologic study.

Clinical Aspects and Treatment of Enuresis Companied with Spina Bifida Occulta in Children / 实用儿科临床杂志

Objective To investigate the clinical states of enuresis children companied with spina bifida occulta(SBO)and study the efficient way of treatment.Methods The children with SBO were check out by X ray from a total of 121 children with bedwetting.Their parents were asked to complete the enuresis questionnaires.Urine routine test and B-ultrasound examination about kidney,bladder and ureter were also asked to be done.The clinic data of the 49 children were attained and analyzed.They were randomly divided into 2 groups,and given the controlled treatment.Group A[used 1-deamino-8-D-arginine vas-opressin(DDAVP)only] and group B(used DDAVP plus oxybutynin plus bladder training)treated for 12 weeks.Results There were totally 49 bedwetting children companied with SBO,and most of them(44 cases,89.8%)were severe type(bedwetting times≥7 times/week).Some of them coexisted with frequency,urgency,gentle urgency incontinence and microscopic hematuria(22 cases).Thirty cases were found the functional bladder capacity(FBC)decrease by B-ultrasound.The cure rates were 58.3%(group A)and 88.0%(group B)respectively.The relapse rates were 36.8%(group A)and 12.5%(group B)respectively after stopping treatment for 3 months.Conclusions SBO accounts for considerably higher rate in enuretic children.It might cause the disability of bladder function.The treatment plan with DDAVP plus oxybutynin plus bladder training can not only increase the cure rate but also lower the relapse rate.