2- to 20-year myelomeningocele follow-up outcomes from a referral center in Southern Iran: the Shiraz experience.

BACKGROUND: The current convention for treatment of children with myelomeningocele (MMC) is timely surgical intervention combined with long-term follow-up by a multidisciplinary specialized team. This study aims to investigate the outcomes of MMC patients treated at Namazi Hospital. METHODS: All children presenting to Namazi Hospital with myelomeningocele between May 2001 and August 2020 were eligible for this study. For those with a documented telephone number, follow-up phone surveys with the patient's caregivers, on top of the review of the medical documents were carried out to assess mortality, morbidities, and the functional outcome of the care provided to them. RESULTS: A total of 125 patients were studied (62 females). All of the patients were followed up for a mean duration of 6.28 years (range 1-23 years). The majority were located in the lumbosacral area. All of the patients underwent postnatal surgical intervention for MMC in Namazi Hospital. Mean age at surgery was 9.51 days. There were statistically significant differences between urinary and bowel incontinence and presence of scoliosis, MMT grading of the lower limbs, school attendance, number of readmissions, and requirement of laminectomy at the initial surgical intervention. CONCLUSIONS: This study is the first to characterize the long-term outcomes of MMC patients in Iran. This study illustrates that there is a great need for improved access to and coordination of care in antenatal, perioperative, and long-term stages to improve morbidity and mortality.

Quality of life of families and siblings of children and adolescents with meningomyelocele.

BACKGROUND: Children with meningomyelocele may require continuous care. Consequently, there is a risk for caregiver burden and impact on family quality of life (QoL), including siblings' QoL. Some studies analysed caregivers' burden and family QoL separately. However, none of these studies evaluated siblings' QoL and the associations between these three dimensions. This study investigated the associations between caregivers' burden, family QoL and siblings' QoL in Brazilian families of children with meningomyelocele and its correlations with sociodemographic, functional and clinical variables. Siblings' QoL was specifically assessed using as a parameter the QoL of typically developed Brazilian children. METHODS: One hundred and fifty families, 150 caregivers and 68 siblings completed the Family Quality of Life Scale, Burden Interview, KIDSCREEN-27 Child and Adolescent Version and Parents Version questionnaires. RESULTS: Most families and caregivers reported a high family QoL and a low caregiver burden. Family QoL was significantly lower as caregivers' burden increased. Caregiver's burden was significantly lower with increasing family QoL levels. Self-reported siblings' QoL was significantly worse than that of typically developed peers. There were no significant differences between self and parent-reported siblings' QoL. Self-reported siblings' QoL was significantly worse as their age increased and better with increasing family QoL levels. Parent-reported siblings' QoL was significantly worse with increasing levels of caregiver's burden and significantly better as family QoL increased. There were no significant associations with functional and clinical variables. CONCLUSIONS: Despite the cross-sectional nature of the available data precludes any statements of causality, our results reinforce the relevance of knowing the factors that influence the QoL of families and siblings of children and adolescents with meningomyelocele and the relevance of actions aimed at reducing caregivers' burden, improving family QoL and meeting siblings' individual needs. Future multicenter studies may validate the generalizability of our findings.

Contribution of obesity to racial and ethnic disparities in the risk of fetal myelomeningocele: a population-based study.

BACKGROUND: Prepregnancy obesity and racial-ethnic disparities has been shown to be associated with meningomyelocele. OBJECTIVE: This study aimed to investigate the association of maternal periconceptional factors, including race-ethnicity and prepregnancy body mass index, with the prevalence of isolated fetal myelomeningocele. METHODS: This was a population-based cross-sectional study using Centers for Disease Control and Prevention birth data from 2016 to 2021. Major structural anomalies or chromosomal abnormalities were excluded. Race-ethnicity was classified as non-Hispanic White (reference population), non-Hispanic Black, non-Hispanic Asian, Hispanic, and others. Maternal prepregnancy body mass index was classified as underweight (<18.5 kg/m2), normal (reference group; 18.5-24.9 kg/m2), overweight (25-29.9 kg/m2), and class I (30-34.9 kg/m2), class II (35-39.9 kg/m2), and class III obesity (≥40 kg/m2). A chi-square test of independence was performed to identify factors significantly associated with myelomeningocele. These factors were then stratified into 3 adjusted clusters/levels. The prevalence was calculated per 10,000 live births. The Cochran-Armitage test for trend was used to detect any significant increasing or decreasing trends. RESULTS: A total of 22,625,308 pregnancies with live birth, including 2866 pregnancies with isolated fetal myelomeningocele, were included in the analysis. The prevalence of isolated fetal myelomeningocele per 10,000 live births varied among different racial/ethnic groups, with the highest prevalence found among the non-Hispanic White (1.60 [1.52-1.67]) and lowest among the non-Hispanic Asian (0.50 [0.40-0.64]) population. The prevalence significantly increased with body mass index, with the highest prevalence found in the population with class III obesity (1.88 per 10,000 live births). Subgroup analysis of the associations between the significant variables (obesity, diabetes, hypertension, and education) and each ethnicity in cases with myelomeningocele showed significant variations in prevalence of these variables among different racial/ethnic groups. Following the model with the 3 levels of adjustment described in the Methods section, prepregnancy overweight and class I, II, and III obesity remained significantly associated with the odds of isolated fetal myelomeningocele. The adjusted odds ratios were 1.32 (95% confidence interval, 1.19-1.46; P<.001) for overweight, 1.55 (95% confidence interval, 1.38-1.75; P<.001) for class I obesity, 1.68 (95% confidence interval, 1.45-1.94; P<.001) for class II obesity, and 1.73 (95% confidence interval, 1.47-2.04; P<.001) for class III obesity. Similarly, following the 3-level adjustment model, the obesity-mediated effect of maternal race-ethnicity on the odds of myelomeningocele remained significant (non-Hispanic Black: adjusted odds ratio, 1.03; 95% confidence interval, 1.02-1.05; P<.001; non-Hispanic Asian: adjusted odds ratio, 1.02; 95% confidence interval, 1.01-1.03; P<.001; Hispanic: adjusted odds ratio, 1.5; 95% confidence interval, 1.03-1.6; P<.001). The test for trend among different racial/ethnic groups did not show significant results across the past 6 years. However, the test for trend showed a significant increase in the prevalence of isolated myelomeningocele associated with class II and III obesity over the past 6 years. CONCLUSION: There has been a rising trend of fetal isolated myelomeningocele in pregnancies with maternal class II and III obesity over the past 6 years after adjusting for other covariates. Prepregnancy obesity, a modifiable risk factor, is a significant driver of racial/ethnic disparities in the overall risk for isolated fetal myelomeningocele.

Revisiting MOMS criteria for prenatal repair of spina bifida: upper gestational-age limit should be raised and assessment of prenatal motor function rather than anatomical level improves prediction of postnatal function.

OBJECTIVES: To determine if the lower-extremity neurological motor function level in fetuses with open spina bifida deteriorates within the 4-week interval between a first prenatal motor assessment at around 22 weeks of gestation and a second evaluation, prior to 'late' prenatal surgery, defined as surgery at 26-28 weeks and, in certain situations, up to 30 weeks, and to assess the association between prenatal presurgical motor-function level, anatomical level of the lesion and postnatal motor-function level. METHODS: This was a two-center cohort study of 94 singleton fetuses with open spina bifida which underwent percutaneous repair using the skin-over-biocellulose for antenatal fetoscopic repair (SAFER) technique between December 2016 and January 2022. All women underwent two prenatal systematic ultrasound evaluations, approximately 4 weeks apart, with the second one being performed less than 1 week before surgery, and one postnatal evaluation via physical examination within 2 months of birth. Motor-function classification was from spinal level T12 to S1, according to key muscle function. Each leg was analyzed separately; in case of discrepancy between the two legs, the worst motor-function level was considered for analysis. Motor-function-level evaluations were compared with each other and with the anatomical level as observed on ultrasound. Independent predictors of a postnatal reduction in motor-function level were assessed using a logistic regression model. RESULTS: Prenatal motor-function level was assessed at a median gestational age of 22.5 (interquartile range (IQR), 20.7-24.3) and 26.7 (IQR, 25.4-27.3) weeks, with a median interval of 4.0 (IQR, 2.4-6.0) weeks. The median gestational age at surgery was 27.0 (IQR, 25.9-27.6) weeks and the postnatal examination was at median age of 0.8 (IQR, 0.3-5.4) months. There was no significant difference in motor-function level between the two prenatal evaluations (P = 0.861). We therefore decided to use the second prenatal evaluation for comparison with postnatal motor function and anatomical level. Overall, prenatal and postnatal motor function evaluations were significantly different from the anatomical level (preoperative assessment, P = 0.0015; postnatal assessment, P = 0.0333). Comparing prenatal with postnatal motor-function level, we found that 87.2% of babies had similar or improved motor function compared with that prior to prenatal surgery. On logistic regression analysis, lower anatomical level of defect and greater difference between anatomical level and prenatal motor-function level were identified as independent predictors of postnatal motor function (odds ratio, 0.237 (95% CI, 0.095-0.588) (P = 0.002) and 3.44 (95% CI, 1.738-6.813) (P < 0.001), respectively). CONCLUSIONS: During a 4-week interval between first ultrasound evaluation and late fetal surgical repair of open spina bifida, motor function does not change significantly, suggesting that late repair, ≥ 26 weeks, does not impact negatively on motor-function outcome. Compared with the anatomical level of the lesion, preoperative neurological motor-function assessment via ultrasound is more predictive of postnatal motor function, and should be included in preoperative counseling. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Growing rods in meningomyelocele lead to increased risk for complications in comparison with fusion; a retrospective study of 30 patients treated for at the University Hospital of Uppsala.

PURPOSE: To compare the complication rates of two different types of posterior instrumentation in patients with MMC, namely, definitive fusion and fusionless surgery (growing rods). METHODS: Single-center retrospective study of 30 MMC patients that underwent posterior instrumentation for deformity (scoliosis and/or kyphosis) treatment from 2008 until 2020. The patients were grouped based on whether they received definitive fusion or a growth-accommodating system, whether they had a complication that led to early surgery, osteotomy or non-osteotomy. Number of major operations, Cobb angle correction and perioperative blood loss were the outcomes. RESULTS: 18 patients received a growing system and 12 were fused at index surgery. The growing system group underwent a mean of 2.38 (± 1.03) surgeries versus 1.91 (± 2.27) in the fusion group, p = 0.01. If an early revision was necessitated due to a complication, then the number of major surgeries per patient was 3.37 (± 2.44) versus 1.77 (± 0.97) in the group that did not undergo an early revision, p = 0.01. Four patients developed a superficial and six a deep wound infection, while loosening/breakage occurred in 10 patients. The Cobb angle was improved from a mean of 69 to 22 degrees postoperatively. Osteotomy did not lead to an increase in perioperative blood loss or number of major operations. CONCLUSION: Growing systems had more major operations in comparison with fusion surgery and early revision surgery led to higher numbers of major operations per patient; these differences were statistically significant. Definitive fusion at index surgery might be the better option in some MMC patients with a high-risk profile.

Clinical presentation and outcomes of neonates born with neural tube defects- an experience from a level III B NICU in Western India.

PURPOSE: Neural tube defects (NTDs) are one of the most common congenital anomalies and a cause of chronic disability. The study was done to study outcomes of neural tube defects admitted at a tertiary level neonatal intensive care unit (NICU) from 2018 to 2022, a period of 4 years that also coincided with the COVID pandemic. The secondary outcome was to study the clinical presentation, associated anomalies and epidemiological features. METHODS: It was a retrospective observational study; data of infants was obtained from medical records and analysis was done. RESULTS: Thirty-four neonates were enrolled, of which there were 16 (47%) males and 18 (53%) females. History of pre-pregnancy maternal folate intake was present in 4 (11.7%) cases. 33 (97%) babies were diagnosed with meningomyelocele (MMC) and one each had anencephaly, iniencephaly and encephalocele, of which one had frontal and two had occipital encephalocele. The median age of surgery was 16 days of life with primary repair being the most common procedure followed by MMC repair with VP shunt. Twenty babies (58.8%) were discharged successfully, while 9 (26.5%) expired and 5 (14.7%) were discharged against medical advice; which can be attributed to the financial problems of the patients in a developing country. The overall deaths in our series were four (26.5%) which is slightly higher than other studies which may be due to the fact that this study was conducted during the COVID era with lesser rates of folate supplementation, reduced access to prenatal diagnosis coupled with poor follow-up and compliance of patients post-surgical repair. CONCLUSION: This study emphasizes the importance of periconceptional folic acid supplementation, prenatal diagnosis, early surgery and meticulous follow-up as being pivotal to improving outcomes in children with NTDs.

Dynamic and static ultrasound features predictive of vesicoureteral reflux and renal damage in children and adolescents with neurogenic bladder

ABSTRACT Purpose: This study aimed to analyze the diagnostic accuracy of dynamic and static ultrasound (DSUS) in detecting vesicoureteral reflux (VUR) and renal scarring in a cohort of children with neurogenic bladder (NB). Materials and Methods: A retrospective, longitudinal, observational study was conducted using the Reporting Diagnostic Accuracy Studies guideline. The DSUS (index test) data were compared with voiding cystourethrography (VCUG) and renal scintigraphy 99mTc-dimercaptosuccinic (reference tests). Overall performance for predicting VUR and renal scarring was assessed using renal pelvic diameter (RPD)/distal ureteral diameter and renal parenchymal thinning on DSUS, respectively. Results: A total of 107 patients (66 girls, median age 9.6 years) participated. Seventeen patients (15.9%) presented VUR, eight bilateral. For overall reflux grade, the AUC was 0.624 for RPD and 0.630 for distal ureteral diameter. The diagnostic performance for detecting high-grade VUR was slightly better for DSUS parameters. The AUC was 0.666 for RPD and 0.691 for distal ureteral diameter. The cut-offs of 5 mm for RPD and 6.5 mm for distal ureteral diameter presented the best diagnostic odds ratio (DOR) to identify high-grade VUR. The increase of RPD during detrusor contractions showed an accuracy of 89.2%. The thinness of renal parenchyma presented an accuracy of 88% for renal scarring. Conclusion: DSUS predicts VUR and renal scarring in children with NB with fair to good accuracy, and all measurements exhibited a high negative predictive value (NPV). The increase in RPD during voiding or detrusor contractions proved to be the most accurate parameter for indicating the presence of VUR in this study.

Cri-Du-Chat Syndrome Associated With Meningomyelocele: A Case Report.

Cri-du-chat syndrome (CdCS) is a rare genetic disorder in which the short arm of chromosome 5 is deleted. This report aims to highlight a rare association with the syndrome. We present a preterm male delivered at 35 weeks gestation with an antenatal diagnosis of meningomyelocele. The patient's clinical examination revealed ruptured lumbosacral meningomyelocele, lower limb hypotonia, and hyporeflexia. The patient also displayed dysmorphic features, including microcephaly, a rounded face, low-set ears, and club feet. In addition, he is noted to have a high-pitched cry. Diagnosis of Chiari tonsil hernia type II was made by magnetic resonance imaging, and whole exome sequencing has confirmed CdCS. The spina bifida was surgically corrected, and the patient has since been cared for by a multidisciplinary team. The patient's short-term follow-up revealed a significant developmental delay. Few cases of CdCS associated with meningomyelocele have been reported. More evidence is needed to support a relevant association between CdCS and meningomyelocele.

Fetus-in-Fetu: A Tale of the Trapped Triplets.

A 7-day-old male child presented with abdominal distention and jaundice. Radiological investigations revealed an encapsulated sac encasing three fetus-in-fetu (FIF) in the retroperitoneum. Laparotomy revealed a sac occupying almost the whole of the abdomen. The sac was stretching the duodenum and barely visible common bile duct, which were carefully separated. The rest of the bowel was displaced to the left. The sac containing three FIFs was excised intact. One of the fetuses was highly differentiated and had thoracic meningomyelocele, which has never been reported in FIF.

Open spina bifida characterisation in a dog foetus.

BACKGROUND: Open spina bifida is an uncommon malformation in animals, and there is a lack of imaging, clinical, and pathological characterisation of this condition in dogs. OBJECTIVE: Open spina bifida is rarely observed in animals due to high levels of perinatal mortality and frequent euthanasia. To the best of our knowledge, we present the first case of spina bifida in a dog was diagnosed in-utero and then followed post-partum. METHODS: A 3-year-old Poodle was presented with twin pregnancy. Radiographic and ultrasonographic findings were suggestive of vertebral malformation and open spina bifida with myelomeningocele in one foetus. Conservative treatment was given but the puppy died 3 days after birth. Thereafter, anatomical and histopathological analysis of several organs was performed to characterise the disease. RESULTS: When the twins were born, one puppy had a linear dorsal midline cutaneous defect extending from the level of vertebrae L2-L6. R Radiographic examination showed several congenital vertebral malformations involving the thoracic segment, lumbar segment, sacrum and scapula. Histopathological examinations confirmed the presence of open spina bifida and identified additional abnormalities in several internal organs. CONCLUSIONS: This case presents a complete characterisation of open spina bifida, before birth and after death, using imaging and histopathology techniques.

Dynamic and static ultrasound features predictive of vesicoureteral reflux and renal damage in children and adolescents with neurogenic bladder.

PURPOSE: This study aimed to analyze the diagnostic accuracy of dynamic and static ultrasound (DSUS) in detecting vesicoureteral reflux (VUR) and renal scarring in a cohort of children with neurogenic bladder (NB). MATERIALS AND METHODS: A retrospective, longitudinal, observational study was conducted using the Reporting Diagnostic Accuracy Studies guideline. The DSUS (index test) data were compared with voiding cystourethrography (VCUG) and renal scintigraphy 99mTc-dimercaptosuccinic (reference tests). Overall performance for predicting VUR and renal scarring was assessed using renal pelvic diameter (RPD)/distal ureteral diameter and renal parenchymal thinning on DSUS, respectively. RESULTS: A total of 107 patients (66 girls, median age 9.6 years) participated. Seventeen patients (15.9%) presented VUR, eight bilateral. For overall reflux grade, the AUC was 0.624 for RPD and 0.630 for distal ureteral diameter. The diagnostic performance for detecting high-grade VUR was slightly better for DSUS parameters. The AUC was 0.666 for RPD and 0.691 for distal ureteral diameter. The cut-offs of 5 mm for RPD and 6.5 mm for distal ureteral diameter presented the best diagnostic odds ratio (DOR) to identify high-grade VUR. The increase of RPD during detrusor contractions showed an accuracy of 89.2%. The thinness of renal parenchyma presented an accuracy of 88% for renal scarring. CONCLUSION: DSUS predicts VUR and renal scarring in children with NB with fair to good accuracy, and all measurements exhibited a high negative predictive value (NPV). The increase in RPD during voiding or detrusor contractions proved to be the most accurate parameter for indicating the presence of VUR in this study.

Evaluation of the height of the corpus callosum body region in fetal meningomyelocele malformation.

PURPOSE: To investigate height of the corpus callosum (CC) in order to describe the corpus callosum anomalies in fetuses with meningomyelocele (MMC) and compare these findings with the corpus callosum of healthy fetuses. METHODS: In this study, fetal MRI examinations were performed on 44 fetal MMC malformation cases. As the control group, 34 fetal MRI examinations, which were anatomically normal, were evaluated retrospectively. In the study group, lateral ventricle diameter, the level and diameter of the MMC defect, and CC height were measured. In the control group, CC height and lateral ventricular diameter were measured. RESULTS: The mean CC body height was 1.36 mm in the study group, and 2.48 mm in the control group. The height of the CC body region of the study population was inclined to be thinner compared with the control population (p<0.001). CONCLUSIONS: The fact that the height of the CC body region was found to be thinner in fetal MRI in cases of MMC compared with normal fetuses suggests that various callosal anomalies are uncertain, investigation of additional callosal anomalies may be beneficial in the decision for the continuation of pregnancy, and termination or intrauterine surgery in cases with MMC. Further large case group studies are needed.

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.

Untreated meningomyelocele and squamous cell carcinoma: a case report and literature review.

BACKGROUND: Early closure of the meningocele, meningomyelocele, is essential to prevent complications such as hypothermia, infection in the postnatal period. But for some reasons, it is not always possible to repair early. The possibility of malign transformation should be considered in long-term due to nonhealing ulcers and cerebrospinal fluid (CSF) fistula and frequent infections in an adult patient with meningomyelocele. The possibility of conversion to malignancy in the control of an untreated meningomyelocele patient with (CSF) drainage should be especially kept in mind. CASE DESCRIPTION: A case is described of a malignant transformation at the site of a myelomeningocele in a 22-year-old woman. The lumbosacral region was deformed by a large meningomyelocele 10 cm in diameter, with areas of scar and ulcer. For 7 years prior to this presentation, the lesion was a large fistula in the roof of the open myelomeningocele. She underwent continuous CSF draining. A biopsy was done which revealed it as squamous cell carcinoma. CONCLUSION: Early closure of meningocele, meningomyelocele is essential to prevent complications such as hypothermia, infection in the postnatal period. Also, especially if there is continuous CSF exposure, the possibility of malignant change should be kept in mind in neglected cases presenting in an adult.

Externalized Rectal Duplication in a Newborn - A Differential Diagnosis of Meningomyelocele.

Rectal duplication is a rare congenital anomaly with many clinical presentations, being mostly asymptomatic. Treatment consists of a surgical approach with a good prognosis. We are reporting a case of a full-term female newborn who presented with a mass externalized through the sacral region. The first diagnostic hypothesis was meningomyelocele, but the neurosurgeon verified peristalsis on examination with a surgical microscope. The pediatric surgery team proceeded with the investigation with barium enema, anal electrostimulation, biopsy, and pelvis MRI, confirming presacral rectal duplication. The patient underwent surgery for posterior sagittal surgical excision, with satisfactory evolution. Cases of rectal duplication are rare and we are unaware of reports of its exteriorization through the sacral region. Such presentation may mimic other diagnoses and should be included in the differential diagnosis of meningomyelocele.

Chronic Calcaneovalgus Deformity Treated With Tibialis Anterior Tendon Transversion: A Case Report.

We present a 21-year-old female with a previously known myelomeningocele who underwent myelomeningocele repair 10 years ago. She presented to the orthopedic outpatient clinic with bilateral calcaneovalgus deformity, causing non-healing ulcers and multiple hospitalizations for pressure ulcers, cellulitis, and osteomyelitis. She had successful tibialis anterior transfer surgery on her right foot six years ago. The patient arrived for treatment of her left foot deformity to underwent three hours of surgery that was uneventful without any complications and recovered well postoperatively and was discharged on day 2. On week 1, the patient came to the clinic for follow-up; the wound was healthy, placed in the full cast in the equinus position, and referred to physiotherapy. In the third month postoperatively, she was able to tolerate her weight with her foot back to a neutral position with full dorsiflexion.

Distinct Spinal Dysraphisms Arising from Each Hemicord of Type I Split Cord Malformation - A Rare Coexistence.

In this report, we describe a 6-month-old child having Type I split cord malformation (SCM), associated with meningomyelocele of one hemicord and lipomeningomyelocele of other hemicord at the same level along with Type II Chiari malformation. The classical embryological theories on split cord malformation and neurulation defect do not clearly explain such a complex entity at one level. The new research on the genetic association of posterior neuropore defect opens a new horizon of research on such genesis.

In utero myelomeningocele repair and high-risk bladder pattern. a prospective study

ABSTRACT Objectives High-risk bladder pattern can be defined by Urodynamic Evaluation (UE) as overactive bladder with detrusor leak point pressure higher than 40 cmH2O and/or higher filling pressures also above 40 cmH2O. We wanted to evaluate response to treatment in myelomeningocele patients operated in utero in this subgroup. Patients and Methods From our prospective cohort of in utero MMC we have identified patients in the high-risk group. Treatment consisted of anticholinergics (Oxybutynin 0.2 mg/Kg) 2 or 3 times daily in association with CIC. At every UE, patients were reclassified in high-risk or low-risk patterns. Patients not responding were proposed bladder reconstruction or diversion according to age. Results Between 2011 to 2020, we have been following 121 patients and 60 (49.6%) of them were initially categorized as high-risk. The initial UE was performed at a mean age of 7.9 months and detrusor overactivity was found in 83.3% (mean maximum pressure of 76.5cmH20). When evaluating patients with 2 or more UE, we identified 44 patients (follow-up: 36.8months). It was observed in the group of patients who underwent 2 to 5 UE, that response to treatment was validated by the finding of 40% of low-risk bladder patterns in the second UE and between 62% to 64% in the third to the fifth UE. The incidence of surgery was 13.3%. Conclusions Early urological treatment of high-risk bladder pattern was effective in approximately 60%. We reinforce the need to correctly treat every patient with myelomeningocele, in accordance with UE, whether undergoing in utero or postnatal treatment.

Home bladder pressure measurements correlate with urodynamic storage pressures and high-grade hydronephrosis in children with spina bifida.

BACKGROUND: Patients with spina bifida are at risk for developing bladder and renal deterioration secondary to increased bladder storage pressures. OBJECTIVES: To determine the association of home bladder volume and pressure measurements (home manometry) to: 1) detrusor storage pressures on urodynamics (UDS); and 2) the presence of Society of Fetal Urology (SFU) grades 3-4 hydronephrosis on renal bladder ultrasound in patients with spina bifida. METHODS: Data were prospectively collected on patients with spina bifida and neurogenic bladder requiring clean intermittent catheterization. Patients used a ruler and typical catheterization equipment to measure bladder pressures and volumes at home. Home measurements were compared to UDS detrusor pressures and SFU hydronephrosis grade. Detrusor pressure <20 cm H2O at 50% maximal cystometric capacity (MCC) on UDS was used as a measure of safe storage pressures on UDS; conversely, detrusor pressure >20 cm H2O was used a measure to capture both unsafe storage pressures and those with potential for unsafe storage pressures. Receiver-operator characteristic curves and area under curve (AUC) were calculated to depict the association between home manometry variables with detrusor pressures on UDS and SFU grades 3-4 hydronephrosis. RESULTS: Included were 52 patients with a median age of 10.3 years (interquartile range 6.3-14.4 years). Three home manometry measurements (maximum bladder pressure, bladder pressure at maximum catheterized volume, and mean bladder pressure) > 20 cm H2O were sensitive for Pdet >20 cm H2O at 50% MCC. Maximal bladder pressure >20 cm H2O was the most sensitive among home manometry measures (sensitivity 100%, specificity 70%, AUC 0.92 for Pdet >20 cm H2O at 50% MCC on UDS; sensitivity 100%, specificity 62%, AUC 0.89 for SFU grade 3-4 hydronephrosis). None of the patients who had maximum home bladder pressure <20 cm H2O had SFU grades 3-4 hydronephrosis; conversely, individuals with maximal home bladder pressure >20 cm had a wide range of hydronephrosis grades. CONCLUSION: None of the patients with maximal home bladder pressure <20 cm H2O had grade 3-4 hydronephrosis. Home measurements of maximal bladder pressure, bladder pressure at maximum catheterized volume and mean bladder pressure of >20 cm H2O were all sensitive for Pdet >20 cm H2O at 50% MCC on UDS. Home manometry is an inexpensive and simple technique to identify patients at risk for and to monitor individuals at high risk of upper tract dilation, without incurring significant cost or morbidity.

Diagnóstico, manejo y tratamiento actual del mielomeningocele fetal / Current diagnosis, management and treatment of fetal myelomeningocele

Introducción: El mielomeningocele fetal, es la extrusión de la médula espinal que ocurre por un cierre incompleto del neuróporo caudal, lo cual expone la placa neural al trauma mecáni-co y químico de la pared uterina y líquido amniótico respectivamente, con graves secuelas. La detección prenatal innovó el diagnóstico y con ello la reparación intra útero ha mejora-do estrategias del tratamiento, generando opciones de atención en aquellas pacientes que cumplen con los criterios de selección para cirugía prenatal. Objetivo: Presentar una revisión bibliográfica sobre diagnóstico, manejo y tratamiento del mielomeningocele fetal y ofrecer a la comunidad científica una herramienta de consulta para mejorar los conocimientos del tema y alternativas de tratamiento oportuno para los fetos con esta malformación.Material y Métodos: Se trata de un estudio de revisión sistemática sin metaanálisis, realiza-do en base a las recomendaciones PRISMA. La búsqueda de información se estructuró bajo el sistema PICO. Las búsquedas se realizaron en Pubmed, Tripdatabase y Pubmed Central; seleccionando artículos publicados durante los últimos diez años en inglés o español, sobre diagnóstico, manejo y tratamiento del mielomeningocele fetal. Resultados: 120 artículos cumplieron con criterios de búsqueda, de los cuáles fueron ele-gibles 42, con información relevante para determinar el diagnóstico, manejo y tratamiento actual del mielomeningocele fetal a través de procedimientos innovadores.Discusión: Los defectos del tubo neural aparecen como consecuencia de una alteración del proceso de neurulación entre el día 21-28 después de la concepción. El mielomeningocele fetal es considerado el defecto congénito no letal más común del SNC. Se caracteriza por la protrusión de las meninges y la médula espinal con daño neurológico permanente. Por ello el diagnóstico y manejo oportuno de esta patología, han permitido que la cirugía fetal intra útero se considere el método óptimo, mejorando la hernia del rombencéfalo, reduciendo la necesidad de una derivación ventricular y manteniendo la motricidad inferior, así como la función neuronal, vesical y gastrointestinal, mejorando la calidad de vida del paciente afecto por esta patología

Introduction: Fetal myelomeningocele is spinal cord extrusion that occurs due to the caudal neuropore incomplete closure, which exposes the neural plate to mechanical and chemical trauma to the uterus wall and amniotic fluid respectively, with serious sequelae. Prenatal detection innovated the diagnosis and with this intra-uterine repair has improved treatment strategies, generating care options in those patients who comply the selection criteria for prenatal surgery.Objective: Submit a bibliographic review on the diagnosis, management and treatment of fetal myelomeningocele and to offer the scientific community a consultation tool to improve knowledge of the subject and timely treatment alternatives for fetuses with this malformation.Materials and Methods: This is a systematic review study without meta-analysis, based on the PRISMA recommendations. The information search was structured under the PICO sys-tem. The searches were carried out in Pubmed, Tripdatabase and Pubmed Central; selecting articles published during the last ten years in English or Spanish, on diagnosis, management and treatment of fetal myelomeningocele.Results: 120 articles met the search criteria, of which 42 were eligible, with relevant informa-tion for determining the current diagnosis, management and treatment of fetal myelomenin-gocele through innovative procedures.Discussion: Neural tube defects appear as a consequence of an alteration of the neurula-tion process between days 21-28 after conception. MMCf is considered the most common non-fatal congenital defect of the CNS. It is characterized by protrusion of the meninges and spinal cord with permanent neurological damage. For this reason, the diagnosis and timely management of this pathology have allowed intra utero fetal surgery to be considered the optimal method, improving rhombencephalon hernia, reducing the need for a ventricular shunt and maintaining the lower motor skills, as well as neuronal, bladder and gastrointestinal function, improving the quality of life of the patient affected by this pathology.