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BMJ Case Reports May 2014A full-term female baby, a product of non-consanguineous marriage, was born at 37 weeks of gestation with a birth weight of 2.08 kg. Antenatal scan at 31 weeks...
A full-term female baby, a product of non-consanguineous marriage, was born at 37 weeks of gestation with a birth weight of 2.08 kg. Antenatal scan at 31 weeks revealed complex congenital heart disease with a hypoplastic right ventricle, pulmonary atresia and an intact septum. Immediately after birth, the infant was shifted to the nursery and was started on intravenous fluids and infusion prostaglandin E1 (Alprostidil). On examination, she had microcephaly, periorbital puffiness, a long philtrum, a broad nasal bridge and retrognathia, up slanting palpebral fissures, widely spaced nipples, a sacral dimple and right upper limb postaxial polydactyly. Postnatal echocardiography confirmed a large ostium secundum atrial septal defect with left to right shunt, right ventricle hypoplasia, pulmonary atresia with an intact septum and a large vertical patent ductus arteriosus. Ophthalmological examination showed a bilateral chorioretinal coloboma sparing disc and fovea. Karyotyping showed an extra small marker chromosome suggestive of the Cat eye syndrome.
Topics: Abnormalities, Multiple; Aneuploidy; Birth Weight; Chromosome Disorders; Chromosomes, Human, Pair 22; Ductus Arteriosus, Patent; Eye Abnormalities; Fatal Outcome; Female; Heart Defects, Congenital; Heart Septal Defects, Atrial; Heart Ventricles; Humans; Infant, Newborn; Microcephaly; Monitoring, Physiologic; Term Birth; Ultrasonography
PubMed: 24842361
DOI: 10.1136/bcr-2014-203923 -
Korean Journal of Pediatrics Jun 2018Sacral dimples are a common cutaneous anomaly in infants. Spine ultrasonography (USG) is an effective and safe screening tool for patients with a sacral dimple. The aim...
PURPOSE
Sacral dimples are a common cutaneous anomaly in infants. Spine ultrasonography (USG) is an effective and safe screening tool for patients with a sacral dimple. The aim of this study was to determine the clinical manifestations in patients with an isolated sacral dimple and to review the management of spinal cord abnormalities identified with USG.
METHODS
We reviewed clinical records and collected data on admissions for a sacral dimple from March 2014 through February 2017 that were evaluated with spine USG by a pediatric radiologist. During the same period, patients who were admitted for other complaints, but were found to have a sacral dimple were also included.
RESULTS
This study included 230 infants under 6-months-old (130 males and 100 females; mean age 52.8±42.6 days). Thirty-one infants with a sacral dimple had an echogenic filum terminale, and 57 children had a filar cyst. Twenty-seven patients had a low-lying spinal cord, and only one patient was suspected of having a tethered cord. Follow-up spine USG was performed in 28 patients, which showed normalization or insignificant change.
CONCLUSION
In this study, all but one infant with a sacral dimple had benign imaging findings. USG can be recommended in infants with a sacral dimple for its convenience and safety.
PubMed: 29963103
DOI: 10.3345/kjp.2018.61.6.194 -
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 -
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 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 -
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 -
World Journal of Clinical Pediatrics Aug 2013Sacral dimples are the most common cutaneous anomaly detected during neonatal spinal examination. Congenital dermal sinus tract, a rare type of spinal dysraphism, occurs...
Sacral dimples are the most common cutaneous anomaly detected during neonatal spinal examination. Congenital dermal sinus tract, a rare type of spinal dysraphism, occurs along the midline neuraxis from occiput down to the sacral region. It is often diagnosed in the presence of a sacral dimple together with skin signs, local infection, meningitis, abscess, or abnormal neurological examination. We report a case of acute flaccid paralysis with sensory level in a 4 mo old female infant with sacral dimple, diagnosed by magnetic resonance imaging to be a paraspinal subdural abscess. Surgical exploration revealed a congenital dermal sinus tract extending from the subdural abscess down to the sacral dimple and open to the exterior with a minute opening.
PubMed: 25254171
DOI: 10.5409/wjcp.v2.i3.26 -
Child's Nervous System : ChNS :... Jul 2020The Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal... (Review)
Review
INTRODUCTION
The Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal pathologies have rarely been reported with PRS.
METHODS
We explore the molecular genetic basis of this association through a systematic review of spinal disease in patients with PRS. We also present an illustrative case of a PRS patient with tethered cord in the setting of chromosome 10q terminal deletion.
RESULTS
Our systematic literature review of spinal disease in patients with PRS revealed several patterns in the underlying genetic syndromes causing these conditions to co-occur. These principles are illustrated in the case of a 6-month-old female with PRS and a 14.34-Mb terminal deletion of chromosome 10q, who was found to have a sacral dimple during a routine outpatient checkup. Magnetic resonance imaging of the spine revealed a lumbar syrinx associated with tethered spinal cord. Surgical de-tethering was undertaken, with subsequent improvement in motor function and decrease in the size of the syrinx. The deletion of chromosome 10q in our patient had not previously been described in association with tethered cord or PRS.
CONCLUSION
Spinal pathologies are understudied contributors to disease burden in patients with PRS. The range of predisposing syndromes and mutations in patients with both PRS and spinal disorders remains poorly characterized but may be more defined than previously conceived. Clinical screening is most critical during neonatal and adolescent developmental periods with continued neurological assessment. This study emphasizes the need for early genetic testing and counseling in this patient population, in parallel with research efforts to develop molecular classifications to guide clinical management.
Topics: Adolescent; Airway Obstruction; Chromosome Deletion; Chromosomes, Human, Pair 10; Female; Humans; Infant; Infant, Newborn; Pierre Robin Syndrome; Spinal Diseases
PubMed: 32399800
DOI: 10.1007/s00381-020-04642-2 -
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 -
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