Management of a Rare Pathology in Children it is Lipomyelomenengocele about Casis Report

The lipomyelomeningocele (LMMC) is a type of congenital occult spinal dysraphism consistent with the presence of lipomatous tissue adhering to the epinetic marrow, which falls through a defect of the vertical colon with the former meninges and the marrow under posture the skin. LMMC is the cause of the most frequent congenital attache between the cadre of the syndrome of the attached cord and causes a neurological deterioration due to the compression of the medical bone and the root system which is superadded. It is therefore about a girl from 6 years ago with a swelling located in the region of Lombardy after the birth of the size of a tangerine which has increased the size gradually with age. He presented the interrogation of the signs of urinary incontinence and the fact that he confirmed that he left us to fellow therapists who sent him to us for support. The local examination of the lumbosacral region revealed a single mass without other distinctive skin signs, spherical in shape, 12 × 10 cm, soft and fixed in consistency. A medullary MRI with effect, which reveals a mass of lipomate consistency at the level of lumbosacral associated with a bone spina extending from L5 to S2. Surgical treatment was indicated as the patient had urinary problems. There were no postoperative complications and after a few months postoperative symptoms improved.

P.234 “Inappropriate” spinal ultrasounds for suspected occult spinal dysraphism in northern Alberta

Background: Occult spinal dysraphism (OSD) may be associated with visible cutaneous manifestations. A common non-pathological mimic of a dermal sinus tract is an incidental sacrococcygeal dimple. Choosing Wisely Canada Guidelines recommend these dimples not be imaged. Methods: This study assessed the appropriateness of spinal ultrasounds performed for the investigation of an OSD. We interrogated our local imaging system to analyze spinal ultrasounds being performed in babies less than 6 months of age, from 2017-2018. Results: 429 children had spinal ultrasounds ordered by pediatricians (55%), family doctors (21%), and neonatologists (20%). 183 children (43%) had imaging indications that was deemed “inappropriate”. Some of this cohort had further MRI imaging (5/183) or neurosurgical referral (8/183). None of these children underwent neurosurgery. 231 (54%) children had appropriate indications for imaging. Within this cohort MRI imaging (23/231), neurosurgical referral (24/231) and neurosurgical intervention occurred (4/231). All four “surgical children” harboured either a dorsal appendage or a subcutaneous lipoma. We estimated, declining inappropriate scans would save $22, 500 annually. Conclusions: A significant portion of local spinal ultrasound requests for OSD are inappropriate. Collaboration with other sites is ongoing to investigate if the Choosing Wisely guidelines for imaging this patient population are being practiced more efficiently.

Pseudotail with closed neural tube defect and neurogenic bladder masquerading as posterior urethral valve: a case report

Background Pseudotail with occult spinal dysraphism with neurological deficit is a rare phenomenon. Ignoring pseudotail as sign of occult spinal dysraphism may lead to catastrophe in diagnosis and further management. Case presentation We are reporting a case of a 30-month-old male child who presented with a tail-like structure at lower back and dribbling of urine since birth. On initial evaluation at some other hospital, he was misdiagnosed as posterior urethral valve and underwent fulguration of valve. However, dribbling of urine persisted after initial procedure. On evaluation at our center, he was found to have pseudotail with occult spinal dysraphism and neurogenic bladder. Conclusion Pseudotail with occult spinal dysraphism with neurological deficit is a rare phenomenon. Neurogenic bladder in such case can be misdiagnosed as posterior urethral valve. So, neurogenic bladder with pseudotail should be evaluated cautiously to avoid misdiagnosis and mismanagement.

International survey on the management of lumbosacral cutaneous stigmata in infants with suspected occult spinal dysraphism

OBJECTIVE Occult spinal dysraphism (OSD) is a common pediatric neurosurgical diagnosis rife with controversy surrounding both the screening of asymptomatic infants and the threshold to offer a prophylactic detethering operation. The authors sought to clarify international practice patterns with a survey of pediatric neurosurgeons. METHODS A survey asked pediatric neurosurgeons whether they would perform imaging in patients with a variety of cutaneous stigmata associated with OSD and whether they would offer prophylactic detethering surgery for asymptomatic patients with a variety of imaging findings on the OSD spectrum. RESULTS Completed surveys were received from 141 pediatric neurosurgeons. Broad consensus was demonstrated on the need for obtaining images in sample patients with more severe stigmata ranging from large lipoma with a skin appendage to focal dysplastic skin in the lumbar midline. Ninety percent of respondents would perform MRI for these patients. In contrast, for patients with a low-sacral dimple, flat hemangioma, and symmetric (Y-shaped) splaying of the intergluteal cleft, opinion on the need for imaging varied considerably (between 57% and 89% recommended imaging). Respondents differed on the type of imaging that they would perform, with 31% to 38% recommending ultrasound screening. The responses reflected less consensus on when to offer surgery to patients with simple spinal tethering (low-lying conus medullaris and fatty filum terminale). Both a lower level of the conus and increased thickness of the filum terminale affected decision-making. CONCLUSIONS The results of this survey showed significant consensus on the recommendation for screening imaging in patients with more dramatic cutaneous stigmata, although these stigmata are the rarest. A significant variance in opinions was reflected in the recommendation for imaging of the most common cutaneous stigmata. Consensus was also lacking on which lesions deserve prophylactic detethering surgery. Significant equipoise exists for future study of screening imaging and of surgical decision-making in patients with asymptomatic OSD and associated cutaneous stigmata.

Prevalence and Association of Occult Spinal Dysraphism with Anorectal Malformation

Background: Anorectal malformation (ARM) is associated with occult spinal dysraphism (OSD). The guideline for screening for OSD in patients with ARM is still controversial. Objective: 1) To evaluate the prevalence of OSD in each type of ARM and to elucidate which types of ARM should be screened for underlying OSD. 2) To compare the methods used in radiologic screening for OSD, such as plain lumbosacral X-ray, spinal ultrasound (U/S), and spinal magnetic resonance imaging (MRI). Materials and Methods: The medical records of all patients with ARM treated at Siriraj Hospital between 2006 and 2016 were reviewed. Spinal dysraphism screening with lumbosacral X-ray, U/S, or MRI were performed depending on the surgeon’s request. Associated urinary tract anomalies were noted. Data of the surgical treatments, outcomes, and complications of treatments were collected. Results: Among the 204 ARM patients treated, 150 patients were screened for OSD, involving 150 lumbosacral X-ray, 65 U/S, and 39 MRI. The prevalence of OSD (n=33) in all types of ARM was 16.2%. The higher types of ARM had higher prevalence of OSD, except for vestibular fistula (20.5%). The prevalence of OSD in cloaca malformation, rectobladder neck fistula, rectoprostatic urethral fistula, rectobulbar urethral fistula, and perineal fistula were 28.6%, 33.3%, 16.7%, 12.5%, and 9.8%, respectively. Lumbosacral X-ray had a sensitivity of 51.7% and was not a good screening method. Sixteen of 65 U/S revealed OSD (24.6%). Tethered cord and syringomyelia were noted in nine and seven, respectively. Spinal MRI (n=39) revealed 27 OSD (69.2%) comprising 16 tethered cords, 12 spinal lipoma, and 10 syringomyelia. ARM associated with KUB anomalies had a statistically significant correlation with OSD. In 33 OSD, 17 patients (51.1%) were operated on. Fourteen received untethering spinal cord, while five had intradural lipoma excised. Conclusion: Patients with ARM had a high prevalence of OSD and should be screened for. U/S is the first-line method. MRI is strongly recommended in cloaca malformation, rectobladder neck fistula, rectoprostatic urethral fistula, vestibular fistula, and all ARM associated with KUB anomalies. Other types of ARM should be screened by MRI if feasible. Keywords: Spinal dysraphism, Tethered cord, Anorectal malformation

Risk of occult spinal dysraphism based on lumbosacral cutaneous manifestations

Objectives: Occult spinal dysraphism is a congenital failure of fusion of the posterior vertebral arches with intact skin overlying the defect. Lumbosacral cutaneous manifestations are associated with a variable risk of occult spinal dysraphism. Tethered cord syndrome is a type of occult spinal dysraphism that puts abnormal traction on the spinal cord. This study analyzed neonates and infants who were referred to our pediatric urology practice and had evidence of lumbosacral cutaneous manifestation on physical examination. Methods: We reviewed the presence of lumbosacral cutaneous manifestations in neonates and infants evaluated in our pediatric urology clinic at our Institution over a 6-year period (1 March, 2015–28 February, 2021) with no prior diagnosis of lumbosacral cutaneous manifestation. All patients underwent a spinal ultrasound. Results: The most common lumbosacral cutaneous manifestations were bifurcated/duplicated gluteal folds (33%), gluteal asymmetry (19%), and sacral dimples (14%). A total of 34 (24%) patients had an abnormal spinal ultrasound; 15 (44%) of these infants underwent a lumbar magnetic resonance imaging. A coccygeal pit was statistically marginally higher in abnormal versus normal spinal ultrasound (p = 0.07). Patients with only one lumbosacral cutaneous manifestation (N = 121) were significantly more likely to have a normal spinal ultrasound compared to those with two or more lumbosacral cutaneous manifestation (N = 17) (79% vs 53%, p = 0.03). Conclusion: Due to the varying risk of certain lumbosacral cutaneous manifestations with occult spinal dysraphism, all patients with a lumbosacral cutaneous manifestation should undergo spinal ultrasound. This study also highlights the importance of urodynamic studies when there are abnormal cutaneous findings. Routine physical examinations of the lumbar region for cutaneous manifestations of occult spinal dysraphism are vital to ensure prompt management of tethered cord syndrome and avoid potentially devastating consequences.