Purpose: This is the first report to compare 3-dimensional computed tomography (3D-CT) images between pediatric patients with enuresis and children without lower urinary tract symptoms who underwent pelvic CT for other reasons.
Methods: Forty-seven children (33 boys and 14 girls) with primary enuresis underwent 3D-CT of sacrococcygeal bones. The control group consisted of 138 children (78 boys and 60 girls) who underwent pelvic CT for other reasons. First, we determined the presence or absence of unfused sacral arches at the L4-S3 levels in both cohorts. Subsequently, we compared the fusion of sacral arches in age- and sex-matched children from these 2 groups.
Results: Dysplastic sacral arches, characterized by lack of fusion at 1 or more levels of the S1-3 arches, were observed in nearly all patients in the enuresis group. In the control group (n=138), 54 of 79 children over 10 years old (68%) exhibited fused sacral arches at 3 S1-3 levels. All 11 control children under 4 years old displayed at least 2 unfused sacral arches at the S1-3 levels. In a comparative study of age- and sex-matched patients with enuresis and control children aged 5 to 13 years (n=32 for each group, with 21 boys and 11 girls; mean age, 8.0±2.2 years [range, 5-13 years]), only 1 patient (3%) in the enuresis group exhibited fusion of all S1-3 arches. In contrast, 20 of 32 control group participants (63%) had 3 fused sacral arches (P<0.0001).
Conclusion: Sacral vertebral arches typically fuse by the age of 10 years. However, in this study, children with enuresis exhibited a significantly elevated prevalence of unfused sacral arches, suggesting that dysplastic development of sacral vertebral arches may play a pathological role in enuresis.
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http://dx.doi.org/10.5213/inj.2346024.012 | DOI Listing |
Mol Syndromol
August 2024
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Introduction: Lateral meningocele syndrome (LMS), also known as Lehman syndrome, is caused by pathogenic variants in exon 33 of . Variants in this final exon of interrupt the regulatory PEST domain, leading to enhanced signaling due to prolonged cellular half-life. Individuals with LMS are expected to have multiple lateral meningoceles, developmental delay, neonatal hypotonia, dysmorphic facial features, and feeding difficulties.
View Article and Find Full Text PDFNeurosurg Rev
August 2024
Neurosurgery department, Sainte-Anne Military Teaching Hospital, 2 boulevard Sainte-Anne, Toulon Cedex 9, 83800, France.
Unstable trauma lesion of the spinopelvic junction, including U-shaped sacral fractures and Tile C pelvic ring disruptions, require surgical stabilization in order to realign the bone arches of the pelvis thus reducing the upcoming orthopaedic impairment during sitting, standing, and walking positions, decompress the nerves roots of the cauda equina in a view of reducing neurological impairment, and allow early weight bearing. Even though posterior open modified triangular spinopelvic fixation is particularly efficient for treating unstable trauma lesions of the spinopelvic junction, it may not be sufficient alone in order to prevent long-term counter-nutation, i.e.
View Article and Find Full Text PDFPrenat Diagn
August 2024
Division of Medical Genetics, Stanford University Department of Pediatrics, Stanford, California, USA.
Due to abnormal prenatal ultrasound findings of femoral shortening and flattened facial profile, a G2P0 pregnant patient underwent an amniocentesis at 15 weeks of gestation for proband-only exome sequencing. Bioinformatic filtering for genes included on the laboratory's extended skeletal dysplasia panel identified a heterozygous, likely pathogenic, frameshift variant in DVL1 NM_001330311.2:c.
View Article and Find Full Text PDFNeurosurg Rev
June 2024
Neurosurgery department, Sainte-Anne Military Teaching Hospital, 2 boulevard Sainte-Anne, Toulon Cedex 9, 83800, France.
Unstable traumas of the spinopelvic junction, which include displaced U-shaped sacral fractures (Roy-Camille type 2 and type 3) and Tile C vertical shear pelvic ring disruptions, occur in severe traumas patients following high speed traffic accident or fall from a height. These unstable traumas of the spinopelvic junction jeopardize one's ability to stand and to walk by disrupting the biomechanical arches of the pelvis, and may also cause cauda equina syndrome. Historically, such patients were treated with bed rest and could suffer a life-long burden of orthopedic and neurological disability.
View Article and Find Full Text PDFInt Neurourol J
June 2023
Department of Urology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Purpose: This is the first report to compare 3-dimensional computed tomography (3D-CT) images between pediatric patients with enuresis and children without lower urinary tract symptoms who underwent pelvic CT for other reasons.
Methods: Forty-seven children (33 boys and 14 girls) with primary enuresis underwent 3D-CT of sacrococcygeal bones. The control group consisted of 138 children (78 boys and 60 girls) who underwent pelvic CT for other reasons.
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