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Cureus Oct 2023Sacral agenesis (SA) is a rare condition characterized by the absence of one or more lower sacral vertebral bodies. In India, children with this condition often present...
Sacral agenesis (SA) is a rare condition characterized by the absence of one or more lower sacral vertebral bodies. In India, children with this condition often present late with symptoms primarily related to urinary and bowel dysfunction. Maternal diabetes is the only confirmed risk factor, significantly elevating the incidence rate. We discuss a case of a nine-year-old female who presented to the pediatric outpatient department (OPD) with chronic constipation and urinary retention, having experienced symptoms since infancy. Initial investigations at peripheral hospitals had yielded no clear diagnosis, leading to undue psychological distress to the child and family. The child had been born to a mother with diabetes mellitus during pregnancy. Physical examination revealed mild dehydration, anemia, and sacral dimpling. Further evaluation showed renal injury and SA confirmed by MRI, along with other associated findings. This case report highlights the importance of early diagnosis and intervention in pediatric SA, especially given the risk of renal disease progression. The treatment in this case included clean intermittent self-catheterization (CIC), dietary management, and counseling on renal health. Crucially, uncovering the root cause provided immense psychological relief to the child and her family. Pediatric SA remains a diagnostic challenge, often leading to psychological distress in affected individuals who present late. Early recognition and comprehensive management are crucial, especially in cases associated with maternal diabetes, to mitigate the risk of renal complications and improve the overall quality of life for affected children.
PubMed: 38021544
DOI: 10.7759/cureus.47456 -
The Pan African Medical Journal 2023
Topics: Humans; Spinal Dysraphism; Neural Tube Defects; Magnetic Resonance Imaging
PubMed: 37900200
DOI: 10.11604/pamj.2023.45.168.40974 -
Cureus Sep 2023For infants presenting with urinary problems or lower extremity weakness, imaging is ordered to investigate spinal pathology. Tethered cord syndrome (TCS) often...
For infants presenting with urinary problems or lower extremity weakness, imaging is ordered to investigate spinal pathology. Tethered cord syndrome (TCS) often manifests without conclusive anatomic evidence. In our case, a premature infant presented with urosepsis and was found to have an asymmetric gluteal crease and a sacral dimple. Renal ultrasound showed mild hydronephrosis, and a cystourethrogram revealed bilateral high-grade vesicoureteral reflux. Ultrasound and magnetic resonance imaging demonstrated a borderline low-lying spinal cord at the mid-L3 vertebral level. Urodynamic testing to confirm neurogenic bladder could not be completed on the first attempt due to urinary tract infection and on the second attempt due to instrument intolerance. Despite the lack of conclusive imaging evidence of a tethered cord, enough supportive clinical data was present to proceed with surgical intervention with the goal of preventing the progression of neurological dysfunction. Because TCS is ultimately a clinical diagnosis, appropriate management should not be discouraged by inconclusive or borderline imaging findings.
PubMed: 37809232
DOI: 10.7759/cureus.44854 -
Neurologia Medico-chirurgica Oct 2023Closed spinal dysraphism (CSD) encompasses a heterogeneous group of spinal cord deformities, which can be accompanied by several types of skin stigmata. These skin...
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.
Topics: Child; Humans; Retrospective Studies; Skin Abnormalities; Neural Tube Defects; Lipoma; Magnetic Resonance Imaging; Spinal Dysraphism; Spinal Cord
PubMed: 37648539
DOI: 10.2176/jns-nmc.2023-0002 -
Medical Principles and Practice :... 2023The present study aims to investigate whether the dimple of Venus affects the anatomy of spinopelvic junction.
OBJECTIVES
The present study aims to investigate whether the dimple of Venus affects the anatomy of spinopelvic junction.
SUBJECTS AND METHODS
Inclusion criteria were having a lumbar MRI examination in the last 1 year, being older than 18 years of age and being able to radiologically evaluate the whole vertebral colon and pelvic girdle. Exclusion criteria were having congenital diseases of the pelvic girdle/hip/vertebral column and history of fracture or previous surgery in the same anatomic regions. The patients' demographic data and low back pain were noted. At radiological examination, the pelvic incidence angle was measured by lateral lumbar X-ray. The facet joint angle, tropism, facet joint degeneration, intervertebral disc degeneration, and intervertebral disc herniation at the level of L5-S1 were examined on lumbar MRIs.
RESULTS
We included 134 male and 236 female patients with a mean age of 47.86 ± 14.50 years and 48.49 ± 13.49 years, respectively. We found that the patients with the dimple of Venus had higher pelvic incidence angle (p < 0.001) and more sagittally oriented facet joint (right facet joint p = 0.017, left facet joint p = 0.001) compared to those without the dimple of Venus. There was no statistically significant relationship between low back pain and the presence of the dimple of Venus.
CONCLUSIONS
The dimple of Venus affects the anatomy of the spinopelvic junction and is associated with an increased pelvic incidence angle and a more sagittally oriented facet joint angle.
Topics: Adult; Female; Humans; Male; Middle Aged; Intervertebral Disc Displacement; Low Back Pain; Lumbar Vertebrae; Zygapophyseal Joint
PubMed: 37285829
DOI: 10.1159/000531413 -
Journal of Neurosurgery. Case Lessons Jan 2023Myxopapillary ependymoma (MPE) is typically benign and found in the conus medullaris and/or filum terminale, although rare cases of subcutaneous and extra-axial MPE have...
Co-occurrence of subcutaneous myxopapillary ependymoma, dermal sinus tract, and filum terminale lipoma: a review of the pathobiology of caudal spinal cord development and spinal cord tethering. Illustrative case.
BACKGROUND
Myxopapillary ependymoma (MPE) is typically benign and found in the conus medullaris and/or filum terminale, although rare cases of subcutaneous and extra-axial MPE have been reported. The co-occurrence of MPE, tethered cord syndrome (TCS) with lipoma of the filum terminale, and a dermal sinus tract is extremely rare, with only 6 reported cases in the literature. Here, the authors present the first case, to their knowledge, of an extra-axial, subcutaneous MPE co-presenting with TCS, lipoma of the filum terminale, and a dermal sinus tract and discuss the underlying pathobiology.
OBSERVATIONS
A 14-month-old male who presented for evaluation of a dermal sinus tract underwent magnetic resonance imaging, which revealed a tethered cord with associated lipoma. At 14 months, the patient underwent spinal cord detethering with resection of his sacral dimple and sinus tract. Histopathological evaluation revealed an incidentally found MPE within the dermal sinus tract.
LESSONS
The authors review the underlying biology of MPEs, tethered cord syndrome, and dermal sinus tracts, and explore possible points of convergence within the developmental pathways that may result in this unique concomitant presentation. Additionally, they suggest that extra-axial MPE may be underappreciated and underdiagnosed; this case suggests that extra-axial MPE may be only effectively diagnosed with histological studies.
PubMed: 36692068
DOI: 10.3171/CASE22451 -
Clinics in Orthopedic Surgery Sep 2022The present study aimed to evaluate the effect of fossae lumbales laterales and pelvic incidence (PI) on transsacral corridors.
BACKGROUND
The present study aimed to evaluate the effect of fossae lumbales laterales and pelvic incidence (PI) on transsacral corridors.
METHODS
Patients who underwent pelvic computed tomography (CT) during routine therapy in a single center between 2015 and 2020 were retrospectively reviewed. The patients' age and sex were documented during CT examination. Measurements were performed for both the upper and second sacral segments. Height and weight of the patients were determined using appropriate tools and body mass index (BMI) was calculated. Transsacral corridors were identified in true coronal and true sagittal planes and their width was determined as the maximum gap measured so that no screws could come out of the transacral corridors. PI was measured.
RESULTS
Our study included 244 (57%) male and 184 (43%) female patients, who had a mean age of 49.3 ± 14.15 years (range, 18-89 years) and a mean BMI of 26.57 ± 2.38 kg/m. No statistically significant correlation was found between the detection of the dimple sign in physical examination and the presence of an adequate corridor. The PI was statistically significantly higher in the patients with dimples ( < 0.001). PI of the female patients was higher than that of the male patients ( = 0.026). The correlation between PI and the existence of adequate corridors for S1 and S2 screws was not statistically significant ( = 0.858 and = 0.129, respectively). On the relationship between the presence of adequate S1 and S2 corridors where transsacral screws could be sent, an inverse relationship was detected: if the S1 transsacral corridor was adequate, the S2 corridor was inadequate or vice versa.
CONCLUSIONS
We could not obtain meaningful results on the use of the dimples of Venus or PI instead of CT to evaluate the adequacy of transverse corridors. Nevertheless, we confirmed that an increased PI was associated with the presence of dimples of Venus.
Topics: Adult; Bone Screws; Female; Humans; Male; Middle Aged; Reproducibility of Results; Retrospective Studies; Sacrum; Tomography, X-Ray Computed
PubMed: 36061839
DOI: 10.4055/cios22090 -
American Journal of Medical Genetics.... Dec 2022Haplo-insufficiency of the TGFβ-activated kinase 1 binding protein 2 (TAB2) gene is associated with short stature, facial dysmorphisms, connective tissue abnormalities,...
Haplo-insufficiency of the TGFβ-activated kinase 1 binding protein 2 (TAB2) gene is associated with short stature, facial dysmorphisms, connective tissue abnormalities, hearing loss, and cardiac disease. Skeletal dysplasia and sacral dimples are also found in a minority of patients. Here, we describe a 3-generation family with caudal appendage, other sacral anomalies, and skeletal abnormalities including hypoplasia of the iliac wings and scapulae, fusion of the carpal bones and stenosis of the spinal canal, as well as a remarkable course of prenatally-detected cardiomyopathy with characteristics changing over time. Genetic analysis showed a heterozygous nonsense variant in the TAB2 gene.
Topics: Pregnancy; Female; Humans; Osteochondrodysplasias; Cardiomyopathies; Adaptor Proteins, Signal Transducing
PubMed: 36000780
DOI: 10.1002/ajmg.a.62929 -
Journal of Clinical Medicine May 2022In this paper, we present our own clinical-laboratory experience concerning three less obvious presentations of pemphigus vulgaris (PV) and discuss the pertinent...
In this paper, we present our own clinical-laboratory experience concerning three less obvious presentations of pemphigus vulgaris (PV) and discuss the pertinent literature. The involvement of the sacral dimple reported here for the first time, as well as the nipple and the eyes, could initially be misleading clinically. These less stereotypical localizations may occur due to the transition of different epithelia, each with varying levels of cadherin (desmoglein, desmocollin) and thus altered sensitivity to mechanical stress. The role of dermatologists who have experience in treating autoimmune blistering dermatoses is fundamental for identifying promptly the initial and exacerbating PV lesions in such unusual locations.
PubMed: 35628981
DOI: 10.3390/jcm11102855 -
SAGE Open Medicine 2021Occult spinal dysraphism is a congenital failure of fusion of the posterior vertebral arches with intact skin overlying the defect. 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.
PubMed: 34394932
DOI: 10.1177/20503121211037172