Aim: To assess lower extremity bone mineral density (BMD) of children with congenital spinal dysfunction and examine factors that may influence BMD in this population.
Method: Forty-four children (25 females, 19 males) aged 6 to 18 years (mean 11 y 11 mo, SD 3 y 6 mo) with congenital spinal dysfunction (35 with myelomeningocele, seven with lipomas, one with sacral agenesis, one with caudal regression) were enrolled in the study. A health survey including ambulatory status, history of bladder augmentation, and history of fracture was administered. Each participant had a physical examination including Tanner stage and neurological level. Dual-energy X-ray absorptiometry scans of the lateral distal femur (LDF) and, when possible, lumbar spine were obtained. We reported LDF BMD results as z-scores for three regions of interest (metaphyseal, metadiaphyseal, and diaphyseal). Univariable and multivariable analyses examined relationships between LDF BMD and the other variables.
Results: BMD was significantly related to ambulatory status (14 non-ambulatory, 15 partly ambulatory, 15 fully ambulatory) and neurological level (13 with low-level lesions, 15 medium-level, 16 high-level) in the univariable analysis (p<0.01 for both in all three regions). Neither history of fracture, nor Tanner stage, nor history of bladder augmentation showed a significant relationship to BMD. The significance of ambulatory status and neurological level in the univariable analysis failed to persist in the multivariable analysis of this study with a small sample size.
Interpretation: The LDF measurement proved to be a viable technique for assessing BMD in children with congenital spinal dysfunction. LDF BMD was sensitive to differences in three categories of ambulation. The overall influence of neurological level was not deemed as important as ambulation.
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http://dx.doi.org/10.1111/j.1469-8749.2012.04420.x | DOI Listing |
Cell Death Dis
January 2025
Key Laboratory of Health Ministry for Congenital Malformation, Shengjing Hospital, China Medical University, Shenyang, China.
Research on the aetiology of neural tube defects (NTDs) has made progress in recent years. However, the molecular mechanism of apolipoproteins underlying NTDs development remains unclear. This study aimed to investigate the function of apolipoprotein M (ApoM) in the pathogenesis of NTDs and its underlying mechanisms.
View Article and Find Full Text PDFPediatr Radiol
January 2025
Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpasa Medical Faculty, 34098, Cerrahpasa, Istanbul, Turkey.
Background: Heterozygous TRPV4 mutations cause a group of skeletal dysplasias characterized by short stature, short trunk, and skeletal deformities.
Objective: The aim of this study is to compare the natural history of clinical and radiologic features of patients with different TRPV4-related skeletal dysplasias.
Materials And Methods: Thirteen patients with a mutation in TRPV4 were included in the study, and 11 were followed for a median of 6.
AIMS Neurosci
November 2024
Clinical Sciences, California Northstate University College of Medicine, Elk Grove, CA, USA.
It is rare to find free floating fat droplets in the cerebral spinal fluid (CSF) spaces of the brain. When fat droplets are seen in the CSF spaces, the most common cause is the rupture of a dermoid cyst. Dermoid cysts are congenital inclusion cysts that form during the neural tube closure between the third and fifth weeks of embryogenesis.
View Article and Find Full Text PDFObjective: While the association of a syrinx with a tethered spinal cord in the context of VACTERL (vertebral defects [V], imperforate anus or anal atresia [A], cardiac malformations [C], tracheoesophageal defects [T] with or without esophageal atresia [E], renal anomalies [R], and limb defects [L]) association is known, the incidence of idiopathic syrinxes among these patients has not previously been reported. The authors aimed to characterize the incidence of syrinxes and the pattern of congenital anomalies in pediatric patients with VACTERL association, with a specific focus on the presence of idiopathic syrinxes in this population.
Methods: An institutional database was retrospectively queried for all pediatric patients with VACTERL association.
Neurosurg Rev
January 2025
Department of Orthopaedics, Peking University Third Hospital, Beijing, China.
The combination of congenital C1 occipitalization and C2-3 non-segmentation (i.e. "sandwich fusion") results in early development of atlantoaxial dislocation (AAD).
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