Prognostic Significance of Central Skull Base Remodeling in Chiari II Malformation.

BACKGROUND AND PURPOSE: Outward convexity of the basiocciput and posterior atlanto-occipital membrane are common in patients with Chiari II malformation associated with an open neural tube defect. We aimed to determine if the severity of these findings correlated with the need for future hydrocephalus treatment. MATERIALS AND METHODS: A retrospective chart and imaging review identified patients who underwent open neural tube defect repair at a quaternary care pediatric hospital from July 2014 through September 2022. Patients were classified by the need for hydrocephalus treatment and whether they received prenatal or postnatal neural tube defect repair. Measurements of imaging parameters related to posterior fossa maldevelopment and skull base remodeling were performed. RESULTS: Compared with 65 patients who did not require hydrocephalus treatment, 74 patients who required treatment demonstrated statistically significantly greater mean basiocciput convexity (P < .001). While the mean basiocciput length in the hydrocephalus treatment group was smaller (P < .001), the ratio of basiocciput convexity to length was larger (P < .001). Notably, 100% of patients with a basiocciput convexity of ≥4 mm required hydrocephalus treatment. The mean posterior atlanto-occipital membrane convexity was significantly greater for patients who required hydrocephalus treatment in the postnatal group (P = .02), but not the prenatal group (P = .09). CONCLUSIONS: Pediatric patients with Chiari II malformation who ultimately required surgical hydrocephalus treatment had greater outward convexity of the basiocciput but had greater posterior atlanto-occipital membrane outward convexity only if the repair was performed postnatally. Together these measurements may be useful in predicting the need for hydrocephalus treatment.

First Trimester Use of Buprenorphine or Methadone and the Risk of Congenital Malformations.

Importance: Use of buprenorphine or methadone to treat opioid use disorder is recommended in pregnancy; however, their teratogenic potential is largely unknown. Objective: To compare the risk of congenital malformations following in utero exposure to buprenorphine vs methadone. Design, Setting, and Participants: This population-based cohort study used health care utilization data from publicly insured Medicaid beneficiaries in the US from 2000 to 2018. A total of 13 360 pregnancies with enrollment from 90 days prior to pregnancy start through 1 month after delivery and first trimester use of buprenorphine or methadone were included and linked to infants. Data were analyzed from July to December 2022. Exposure: A pharmacy dispensing of buprenorphine or a code for administration of methadone in the first trimester. Main Outcomes and Measures: Primary outcomes included major malformations overall and malformations previously associated with opioids (any cardiac malformations, ventricular septal defect, secundum atrial septal defect/nonprematurity-related patent foramen ovale, neural tube defects, clubfoot, and oral clefts). Secondary outcomes included other organ system-specific malformations. Risk differences and risk ratios (RRs) were estimated comparing buprenorphine with methadone, adjusting for confounders with propensity score overlap weights. Results: The cohort included 9514 pregnancies with first-trimester buprenorphine exposure (mean [SD] maternal age, 28.4 [4.6] years) and 3846 with methadone exposure (mean [SD] maternal age, 28.8 [4.7] years). The risk of malformations overall was 50.9 (95% CI, 46.5-55.3) per 1000 pregnancies for buprenorphine and 60.6 (95% CI, 53.0-68.1) per 1000 pregnancies for methadone. After confounding adjustment, buprenorphine was associated with a lower risk of malformations compared with methadone (RR, 0.82; 95% CI, 0.69-0.97). Risk was lower with buprenorphine for cardiac malformations (RR, 0.63; 95% CI, 0.47-0.85), including both ventricular septal defect (RR, 0.62; 95% CI, 0.39-0.98) and secundum atrial septal defect/nonprematurity-related patent foramen ovale (RR, 0.54; 95% CI, 0.30-0.97), oral clefts (RR, 0.65; 95% CI, 0.35-1.19), and clubfoot (RR, 0.55; 95% CI, 0.32-0.94). Results for neural tube defects were uncertain given low event counts. In secondary analyses, buprenorphine was associated with a decreased risk of central nervous system, urinary, and limb malformations but a greater risk of gastrointestinal malformations compared with methadone. These findings were consistent in sensitivity and bias analyses. Conclusions and Relevance: In this cohort study, the risk of most malformations previously associated with opioid exposure was lower in buprenorphine-exposed infants compared with methadone-exposed infants, independent of measured confounders. Malformation risk is one factor that informs the individualized patient decision regarding medications for opioid use disorder in pregnancy.

Spina bifida and cardiorespiratory profile: the impact of leisure sport activities on physical fitness.

PURPOSE: The aim of the present study is to evaluate a population of young patients affected by Spina Bifida (SB) to describe their cardiorespiratory function and bone mineral density profile, analyzing any differences between people performing and those who do not perform sports activity. The study also aimed to rule out possible congenital heart disease associated with spina bifida, considering the common origin of certain cardiac structures with those found to be altered in SB patients. METHODS: Thirty-four young patients, aged between 12 and 22 years, diagnosed with spinal dysraphism (SD), have been clinically described and, in order to evaluate their physical fitness, functional capacity and bone mass, almost all of them underwent a complete cardiorespiratory assessment, including electrocardiogram (ECG), echocardiogram, Cardiopulmonary Exercise Test (CPET), body composition analysis using bioimpedance analysis (BIA) and Dual Energy X-ray Absorptiometry (DEXA), as well as the estimation of bone mineral density (BMD) with Computerized Bone Mineralometry (CBM). RESULTS: Collected data demonstrated that only 35% of the subjects practiced physical activity during the week. BMI and percentage FM values were pathological in at least 50% of the population. On cardiological investigations (ECG and echocardiogram), no significant alterations were found. In all patients who performed CPET (79.4%), pathological values of the main functional capacity parameters were revealed, especially peak oxygen consumption (VO2 peak), even when corrected for BCM or FFM estimated at BIA and DEXA, respectively. In the CBM analysis, out of 27 patients in whom the femoral T-score was evaluated, a condition of osteopenia was revealed in 40.7% of the patients (11/27) and osteoporosis in 18.5% (5/27); out of 27 patients in whom the lumbar T-score was evaluated, 37% of the patients showed osteopenia (10/27) and 29.6% osteoporosis (8/27). When the comparison between exercising and non-exercising patients was performed, the only statistically significant difference that emerged was the median lumbar T-score value, which appeared lower in the group not performing physical activity (p = 0,009). CONCLUSIONS: The extensive cardiorespiratory evaluation, including CPET, of our cohort of spina bifida patients showed altered values of the main parameters related to cardiorespiratory fitness and is the only study in the literature that analysed bone mineralization values in physically active and sedentary spina bifida patients and demonstrated a statistically significant difference. Furthermore, it is the only study to date that investigated the possible association of congenital heart diseases with SD, without demonstrating the existence of pathological conditions.

Acalvaria: a case report of a rare congenital malformation and a review of the literature.

Acalvaria is a rare congenital malformation characterized by the absence of bones and related muscles in a section of the skull. The number of reported cases in the literature is quite low, and it is generally considered a fatal malformation. We present a case of a newborn diagnosed with acalvaria malformation along with a review of the literature, emphasizing the importance of distinguishing this rare condition from malformations such as anencephaly, exencephaly and acrania. INTRODUCTION: The clinical landscape of acalvaria is scarcely populated, with the malformation often signifying a dire prognosis. Despite the embryological origin and pathogenesis remaining largely enigmatic, it has critical implications for the prenatal and postnatal therapeutic strategies. We investigate a case coupled with a comprehensive literary review to present a clearer clinical portrait and advance the alertness about this lethal anomaly among healthcare providers. DISCUSSION: The rarity of acalvaria constrains the establishment of a definitive incidence rate or a standardized treatment protocol. Varied associations with other neurological and systemic anomalies pose a significant ambiguity regarding its etiopathogenesis. Differential diagnosis remains intricate, relying on nuanced ultrasonographic examinations and an informed interpretation of embryological developments. CONCLUSION: Through our report of an acalvaria-affected newborn undetectable in prenatal ultrasound, we highlight the implications of rarity - the obstacle in uniform diagnosis and the resultant therapeutic challenge. The discussion fosters a need for heightened awareness and consolidating case reports to nurture clinical consensus. Furthermore, it underscores the necessity for multifaceted research efforts towards understanding etiology and optimizing treatment modalities.

Surgical technique of spine-shortening vertebral osteotomy for adult tethered cord syndrome: a case report and review of the literature.

BACKGROUND: Miyakoshi et al. reported three cases of tethered cord syndrome treated by spine-shortening vertebral osteotomy, which provided relief of the patients' symptoms with no complications. Although the details of these cases were described in a previous report, the surgical technique was not thoroughly explained. In the present report, we describe the details of our procedure with reference to a fourth case. CASE PRESENTATION: A 47-year-old Asian woman was admitted to our hospital with a 1-year history of worsening leg numbness and urinary dysfunction. Magnetic resonance imaging revealed a low-lying conus medullaris extending to the level of S2 and surrounded by fat tissue at that level. We diagnosed her condition as adult tethered cord syndrome, and spine-shortening vertebral osteotomy was planned. The target level for the osteotomy was L2. Bilateral pedicle screw implants were placed at L1 and L3 using an anterior-posterior image intensifier. In this procedure, it is essential to use monoaxial screws inserted exactly parallel to the rostral endplates of each vertebral body; this ensures appropriate alignment between the L1 caudal endplate and the L2 osteotomy surface. The upper one-third of the lamina of L2 was resected, and the bilateral two-thirds of the pedicle of L2 was removed with a surgical air drill. After exposure of the lateral side of the L1-2 disc, discectomy was performed with a knife and curette. Following complete discectomy of L1-2, the upper vertebral body of L2 was removed with a surgical air drill. After complete removal of the vertebral body, a straight rod was connected to two screws and applied pressure between the screws. Two polyethylene tapes were applied to the L2 lamina and bilateral rods. CONCLUSION: Spine-shortening osteotomy that preserves the caudal one-third of the pedicle and lamina with one-above and one-below instrumentation successfully reduced the spinal cord tension without causing neural damage.

Syndrome of anterior neural stalk, vertebral abnormality, enteric duplication cyst, and diaphragmatic hernia related to persistent ventral neurenteric canal: report of two cases.

PURPOSE: Abnormalities in notochordal development can cause a range of developmental malformations, including the split notochord syndrome and split cord malformations. We describe two cases that appear related to unusual notochordal malformations, in a female and a male infant diagnosed in the early postnatal and prenatal periods, which were treated at our institution. These cases were unusual from prior cases given a shared constellation of an anterior cervicothoracic meningocele with a prominent "neural stalk," which coursed ventrally from the spinal cord into the thorax in proximity to a foregut duplication cyst. METHODS: Two patients with this unusual spinal cord anomaly were assessed clinically, and with neuroimaging and genetics studies. RESULTS: We describe common anatomical features (anterior neural stalk arising from the spinal cord, vertebral abnormality, enteric duplication cyst, and diaphragmatic hernia) that support a common etiopathogenesis and distinguish these cases. In both cases, we opted for conservative neurosurgical management in regards to the spinal cord anomaly. We proposed a preliminary theory of the embryogenesis that explains these findings related to a persistence of the ventral portion of the neurenteric canal. CONCLUSION: These cases may represent a form of spinal cord malformation due to a persistent neurenteric canal and affecting notochord development that has rarely been described. Over more than 1 year of follow-up while managed conservatively, there was no evidence of neurologic dysfunction, so far supporting a treatment strategy of observation.

Role of Magnetic Resonance Imaging in the Screening of Closed Spinal Dysraphism.

Closed spinal dysraphism (CSD) encompasses a heterogeneous group of spinal cord deformities, which can be accompanied by several types of skin stigmata. These skin stigmata may include inconspicuous features, such as sacral dimples and deformed gluteal clefts, but the association between such mild skin stigmata and CSD is uncertain. This study aimed to reevaluate the indication for magnetic resonance imaging (MRI) in patients with skin stigmata while considering the indication for surgery. A retrospective analysis was conducted on magnetic resonance images of 1255 asymptomatic children with skin stigmata between 2003 and 2015. Skin stigmata classification was based on medical chart data. All subtypes of CSDs except for filum terminale lipomas (FTL), FTL thicker than 2 mm or with low conus medullaris, were considered to meet the surgical indication. CSD prevalence was estimated while considering the surgical indications and assessed after excluding all FTL cases. Skin stigmata were classified into seven types, dimple, deformed gluteal cleft, hair, subcutaneous mass, appendage, discoloration, and protruding bone, and included 1056 isolated and 199 complex ones. The prevalence of CSD was 19.5%, 6.8%, and 0.5% among patients with isolated dimples (n = 881) and 13.9%, 5.8%, and 0.7% among those with isolated deformed gluteal clefts (n = 136) for all cases, surgical indications, and patients without FTL, respectively. Dimples and deformed gluteal clefts had a low prevalence of CSD requiring surgical intervention, and cases without FTL were rare. Asymptomatic patients with mild skin stigmata may not require immediate MRI.

Prophylactic Spinal Cord Untethering in Children with Spinal Dysraphism Undergoing Thoracolumbar Fusion for Scoliosis.

BACKGROUND: It remains unclear whether spinal cord untethering is necessary to reduce the chances of neurologic decline in children with myelomeningocele and complex closed spinal dysraphism who undergo thoracolumbar fusion for scoliosis. We sought to determine the neurologic and functional outcomes of children with spinal dysraphism undergoing spinal fusion for scoliosis with and without prophylactic spinal cord untethering. METHODS: Retrospective, single-center review of patients with spinal dysraphism treated with thoracolumbar fusion over the last 10 years (2009-2019) with or without prophylactic spinal cord untethering. RESULTS: Seventeen patients with myelomeningocele and complex closed spinal dysraphism underwent spinal fusion for scoliosis. Mean age at time of surgery was 13.9 years. Prophylactic spinal cord untethering was performed in 8 of 17 (47%) patients. The change in Cobb angle after surgery was similar between the 2 groups (19.4° untethered vs. 19.9° no untethering). The ambulatory status was similar between the groups, with 37% of the untethered cohort and 44% of the non-untethered cohort being community or household ambulators. There were no changes in intraoperative motor or sensory evoked potentials in any patient during fusion surgery. No patient had a change in motor level or ambulatory status after scoliosis surgery. CONCLUSIONS: Our data suggest that prophylactic spinal cord untethering in children with spinal dysraphism undergoing thoracolumbar fusion for scoliosis may not be necessary in patients with moderate curvatures. Our conclusions are limited by the small sample size. A larger review of registry data may yield more powerful conclusions on the necessity of prophylactic spinal cord untethering in this patient population.

Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature.

BACKGROUND: Down syndrome is a genetic disorder caused by trisomy of chromosome 21 and characterized by an increased risk of multiorgan involvement. In Down syndrome children, functional constipation and lower urinary tract infections have been described, together with higher risk for incontinence and delayed sphincter control. At present, to our knowledge, no clear association between Down syndrome, Bladder Bowel Dysfunction and neural tube defects has been previously described. CASE PRESENTATION: We describe two female patients with Down syndrome presenting Bladder Bowel Dysfunction in association with neural tube defects, who both underwent personalized multidisciplinary intervention and pelvic floor rehabilitation, with good clinical outcomes. CONCLUSION: At present, no screening program has been established in order to rule out neural tube defects or neurogenic urinary anomalies in Down syndrome patients presenting bowel and/or bladder dysfunction. In our opinion, presence of spinal abnormalities, despite rare, may be contribute to urinary symptoms and should be ruled out in patients presenting progressive or persistent Bladder Bowel Dysfunction. Early diagnosis and management of spinal cord defects associated with neurogenic urinary dysfunction may allow to prevent possible complications.

Dorsal bony spur in pediatric split cord malformations: eight-year experience from a tertiary care hospital.

INTRODUCTION: Dorsal spurs in Type I split cord malformations (SCM-I) are infrequent findings. The pathogenesis of the same is debatable. The objective of this study is to analyze our experience with SCM-I patients having dorsal bony spurs. METHODOLOGY: Retrospective analysis of SCM patients operated from 2010 to 2017 was performed. Their demographic profile, clinic-radiological features, operative findings, and outcome following surgery were recorded. RESULTS: Twenty-four cases of Type I SCM harboring dorsal bony spurs were identified with mean age of 4.96 years. The commonest split site was lumbar, documented in 62.5%. Scoliosis was observed in 58.3%. Pre-operative neurological deficits were seen in 66.6% cases with asymmetric weakness of limbs seen in 16.6%. There was no new neurological deficit observed post-operatively. CONCLUSIONS: This is the largest series of dorsal spurs occurring in SCM, reported in literature so far. Meticulous pre-operative evaluation and imaging are important to identify dorsal spurs for appropriate management and good clinical outcome. Differentiating dorsal spur from ventral spur is important as it has a bearing on surgical approach.

A clinical clue toward recognition of split cord malformation type-I resembling meningocele in neonates.

This is a letter to share the clinical experience we had with neonates born with a specific feature of spina bifida. The lesion is like a meningocele containing skim amount of fluid, with a tiny dimple around the center of the cutaneous lesion which causes inward retraction of the dysplastic coverage. This feature is in favor of accompanied split cord malformation (SCM) type I, and the central nidus is in continuous with the dural sleeve around the bony septum of SCM. By recognition of this clinical clue, surgical repair can be planned to perform with appropriate provision, particularly foreseeing the amount of intraoperative bleeding and duration of anesthesia in the newborn patients.

The contribution of epidemiology to the understanding of neurodevelopmental disabilities.

Epidemiological approaches have played an important role in creating better understanding of developmental disabilities by delineating their frequency in populations and changes in their frequency over time, by identifying etiological factors, and by documenting pathways to prevention. Both cerebral palsy (CP) and mild intellectual disability are declining in frequency in high-income countries. The diagnosis of autism spectrum disorder has increased in recent decades, but much of this increase is a result of changing approaches to ascertainment and recording. Epidemiological studies have found that most CP is not of birth-asphyxial origin, that most febrile seizures do not pose a major risk for epilepsy, and that folic acid deficiency may contribute to developmental disabilities apart from its effect on neural tube defects. Epidemiological research has shown that an important fraction of neural tube defects and virtually all cases of Reye syndrome are preventable, and recent trials have shown ways to prevent CP. Early psychoeducational interventions in children at risk for mild intellectual disability are an effective and valuable societal investment. Very large population-based studies starting in pregnancy have been launched in Norway, Denmark, and Japan in recent years and these and other population studies promise to continue the epidemiological contribution to a better understanding of developmental disabilities.

Iniencephaly and long-term survival: a possible association-case report and review of the literature.

BACKGROUND: Iniencephaly is a rare, complex, and severe form of neural tube defect (NTD), usually associated with wide systemic involvement and poor prognosis. The malformation involves the occiput and the inion, variably combined with rachischisis of the upper cervical and thoracic spine. Although most patients are either stillborn or perish within a few hours after birth, there are reports linking iniencephaly and long survival. For the neurosurgeon, associated encephalocele and secondary hydrocephalus represent the main challenges in this setting of patients, together with proper prenatal counseling. MATERIAL AND METHODS: Herein, the authors performed a thorough review of the pertinent literature, looking for reports of long-term survivors. RESULTS: To date, only five long-term survivors have been reported, with surgical repair attempted in four of them. Furthermore, the authors added their personal experience about two children with long-term survival who underwent surgery, thus accurately comparing them with the analogous cases previously reported in literature, with the ultimate aim of providing novel information on the pathology and the therapeutic options needed to offer proper treatment to these patients. CONCLUSIONS: Although no distinctive anatomic differences have been prior identified between long-term survivors and other patients, some variations emerged to occur, regarding age of presentation, the extension of the CNS malformation, the systemic involvement, and the surgical procedures offered. Although the authors shed some light on the topic, further studies are warranted to better define this rare and complex disease, and survival.

Multi-Institutional Review From the Pediatric Colorectal and Pelvic Learning Consortium of Minor Spinal Cord Dysraphism in the Setting of Anorectal Malformations: Diagnosis, Treatment, and Outcomes.

BACKGROUND/RATIONALE: Anorectal malformations (ARM) are associated with congenital anomalies of the spine, but the impact of a minor spinal cord dysraphism (mSCD) on fecal continence in the setting of ARM remains unclear. MATERIALS/METHODS: A retrospective review was performed utilizing data from the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry. The patient cohort was reviewed for ARM type, mSCD screening/incidence/neurosurgical intervention and age-based BMP utilization. RESULTS: 987 patients with ARM were categorized into mild (38%), moderate (32%) or complex (19%). 694 (70%) had normal spinal (NS) status. 271 (27.5%) patients had mSCD. MRI alone (49%) was the most common screening test for mSCD. US screening had a positive predictive value of 86.3% and a negative predictive value of 67.1%. Surgical intervention rates for mSCD ranged between 13% and 77% at a median age of 0.6-5.2 years. 726 (73.6%) patients were prescribed BMP (74.4% NS, 77.5% mSCD). Laxatives were most utilized BMP in all groups <5yo. ≥5yo, enema utilization increased with ARM complexity independent of spine status (with or without neurosurgical intervention). Neurosurgical intervention did not affect BMP utilization at any age or with any ARM when mSCD was identified. CONCLUSIONS: MSCD influence on bowel function in the setting ARM remains unclear. No significant impact of mSCD was noted on ARM patient bowel management program utilization. Variability exists within PCPLC site with screening and intervention for mSCD in patients with ARM. Future studies with standardized care may be needed to elucidate the true impact of mSCD on long term patient outcomes in ARM patients. TYPE OF STUDY: Retrospective Comparative Study. LEVEL OF EVIDENCE: III.

Dekyphosis operation combined with limited osteotomy to treat the symptomatic adult tethered cord syndrome with complicated malformations: A case report.

RATIONALE: Tethered cord syndrome (TCS) represents a spectrum of neurological symptoms that are caused by constant or intermittent axial traction of the terminal cone of the spinal cord due to abnormal positioning. It is uncommon for abnormal structures of TCS to be accompanied by split cord malformation, thoracic spinal stenosis, and other spinal cord diseases. PATIENT CONCERNS: A 45-year-old male patient visited our hospital due to severe lower back pain, extensive left lower limb muscle weakness, and intermittent claudication. DIAGNOSES: TCS combined with stenosis of the thoracic canal, split cord malformation, and kyphosis deformity. INTERVENTIONS: The patient underwent Dekyphosis operation combined with limited osteotomy symptoms. OUTCOMES: The patient felt the right lower limb improved after surgery. At 4-month follow-up, a radiological examination showed adequate decompression of the spinal cord and a good internal fixation position. Overall, the patient's clinical symptoms significantly improved. CONCLUSION: This is a rare case of TCS combined with thoracic disc herniation and bony mediastinum. A more conservative invasive surgical approach was elected and markedly improved the patient's symptoms. Additional clinical cases are needed to confirm the stability and feasibility of this surgical approach.

Application of urethral injection of calcium hydroxyapatite as a natural bulking agent for improvement of urinary incontinence in children with spinal dysraphism.

PURPOSE: The aim of this report is to evaluate the efficacy of endoscopic injection of calcium hydroxyapatite (CaHA) into the bladder neck and posterior urethra in children with refractory urinary incontinence due to spinal dysraphism. METHODS: A retrospective study was performed on patients with neuropathic bladder due to spinal dysraphism who had undergone submucosal urethral injections of CaHA from 2010 until 2019. All patients were totally incontinent without voiding per urethra and did not respond to 1-year standard pharmacotherapy with anticholinergic drugs. All children underwent a precise physical exam and urodynamic studies. Patients underwent urethrocystoscopy and injection of pure soluble CaHA into the bladder neck and posterior urethra except for the verumontanum. The outcomes were determined as no change, improvement (social continent), or cure (total continent). RESULTS: Fifteen children (ten boys, five girls, mean age of 7.6 years) with a history of spinal dysraphism and refractory urinary incontinence were included. Endoscopic injections of CaHA were performed one or two times for each patient. At the median follow-up of 2 years (interquartile range = 6), seven (46.7%), three (20.0%), and five (33.3%) of the patients were total continent, social continent, and total incontinent, respectively. In four patients, intradetrusor botulinum toxin injection was performed simultaneously with CaHA injection. Also, one patient experienced a febrile urinary tract infection between two CaHA injections. Among 15 patients, 9 had atonic/hypotonic bladders both before and after CaHA injections; at the last follow-up, 4 of these children (44.4%) were totally continent. No injection-related or other complications were observed in the patients. CONCLUSION: Injection of CaHA into the bladder neck is relatively safe, reproducible, and effective for total dribbling urinary incontinence in children with spinal dysraphism. The bladder neck reconstruction with or without a urethral sling or other surgical procedures could be postponed until puberty in selected cases. However, further multicenter clinical trials are highly recommended.

A Case of Neonate with Split Cord Malformation Presenting with Hypoplasia of the Left Lower Extremity.

The frequency of split cord malformation (SCM) is approximately 1 in 5000 births; however, patients are rarely diagnosed with SCM in the neonatal period. Moreover, there have been no reports of SCM with hypoplasia of the lower extremities at birth. A 3-day-old girl was transferred to our hospital for a thorough examination of hypoplasia of the left lower extremity and lumbosacral abnormalities detected after birth. The spinal magnetic resonance imaging (MRI) revealed a split spinal cord in a single dural tube. Based on the MRI findings, the patient was diagnosed with SCM type II. Following discussions with the parents, pediatricians, neurosurgeons, psychologists, and social workers, we decided to perform untethering to prevent further neurological impairment after achieving a sufficient body weight. The patient was discharged on day 25 of life. Early diagnosis and intervention may improve the neurological prognosis in terms of motor function, bladder and bowel function, and superficial sensation; thus, clinicians should report infrequent findings that may lead to SCM diagnosis. SCM should be differentiated in patients with left-right differences in the appearance of the lower extremity, particularly in those with lumbosacral abnormalities.

Neural Tube Defects from Antenatal Diagnosis to Discharge - a Tertiary Academic Centre Experience.

Background: Bleeding Worldwide, approximately 300,000 infants are born annually with neural tube defects (NTDs), which carry a high risk of morbidity and mortality. Objective: The aim of the study was to describe the experience with NTD patients born at a tertiary academic center. Methods: A retrospective record review of all neonates with NTD admitted to the neonatal intensive care unit over six years. Results: Out of the 39 patients identified, 32 (82.1%) were diagnosed antenatally. Most NTD cases were of the myelomeningocele 26 (66.7%) type. The most common site of the myelomeningocele was lumbar, and the thoracolumbar site had the worst prognosis. Conclusion: Early detection of the disease allows better planning of delivery and treatment decisions. Nevertheless, understanding the magnitude of the problem necessitates adopting public health prevention strategies for better outcomes.

Risk determination for upper urinary tract damage in children with neuropathic bladder.

AIM: Neuropathic bladder dysfunction (NBD) or neurogenic lower urinary tract dysfunction occurs as a result of a lesion at any level of central nervous system. The most common aetiology of NBD in children is abnormal development of spinal column. These defects cause neurogenic detrusor overactivity which contributes to detrusor-sphincter dysfunction and results in lower urinary tract symptoms such as incontinence. One of the more progressive and insidious, at the same time preventable result of neuropathic bladder is upper urinary tract deterioration. It is vital to aim reduction in bladder pressures and the minimisation of urine stasis in order to prevent or at least attenuate renal disease. Despite world-wide strategies for prevention of neural tube defects currently, we will still be involved in the care of spina bifida patients born every year with a neuropathic bladder and at risk of long-term renal damage. This study was planned for evaluation of results and detection of possible risk factors for upper urinary tract deterioration during routine visits of neuropathic bladder population. METHODS: The electronic medical records of the patients who were followed up for at least 1 year with the diagnosis of neuropathic bladder in Pediatric Urology and Nephrology units of Adana City Training and Research Hospital were reviewed retrospectively. A total of 117 patients, whose blood, urine, imaging and urodynamic study required for the evaluation of nephrological and urological status were completed and included in the study. Patients under the age of one were excluded from the study. Demographic characteristics, medical history, laboratory and imaging results were recorded. All statistical analyses were analysed by SPSS version 21 software package and analysed by descriptive statistical. RESULTS: Of the 117 patients who participated in the study, 73 (62.4%) were female and 44 (37.6%) were male. Mean age of the patients was 6.7 ± 4.9 years. The leading cause of neuropathic bladder was neuro-spinal dysraphism with 103 (88.1%) patients. Urinary tract ultrasound imaging revealed hydronephrosis in 44 patients (35.9%), parenchymal thinning in 20 patients (17.1%), increased parenchymal echo in 20 patients (17.1%) and trabeculation or increase in wall thickness of the bladder in 51 patients (43.6%). Voiding cystogram revealed the presence of vesicoureteral reflux in a total of 37 patients (31.6%), with 28 patients being unilateral and 9 patients bilateral. More than half of the patients had abnormal bladder findings (52.1%). In the Tc 99 m DMSA scan of the patients, 24 patients (20.5%) had unilateral renal scars and 15 (12.8%) had bilateral. Loss of renal function was detected in 27 (23.1%) of the patients. Urodynamic study revealed decreased bladder capacity in 65 patients (55.6%) and increased detrusor leakage pressure was found in 60 patients (51.3%). The mean leak point pressure of the patients was 36 ± 26 cm H2 O, and the mean leakage volume was determined as 157 ± 118 mL. CONCLUSION: Findings obtained from imaging and urodynamic studies during routine investigation of neuropathic bladder patients can be a guide for the upper urinary tract. According to our results, age, bladder changes in ultrasound and voiding cystogram, high leak point pressure obtained during urodynamic studies are thought to have strong correlation with upper urinary tract damage. The prevalence of progressive chronic kidney disease in children and adults with spina bifida is remarkable and completely preventable. The strategies for prevention of renal disease in this patient population should be planned by coordinated work of urologist with nephrologist and requires family cooperation.