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Pediatric Nephrology (Berlin, Germany) Sep 2022Rickets is a disease of the growing child arising from alterations in calcium and phosphate homeostasis resulting in impaired apoptosis of hypertrophic chondrocytes in... (Review)
Review
Rickets is a disease of the growing child arising from alterations in calcium and phosphate homeostasis resulting in impaired apoptosis of hypertrophic chondrocytes in the growth plate. Its symptoms depend on the patients' age, duration of disease, and underlying disorder. Common features include thickened wrists and ankles due to widened metaphyses, growth failure, bone pain, muscle weakness, waddling gait, and leg bowing. Affected infants often show delayed closure of the fontanelles, frontal bossing, and craniotabes. The diagnosis of rickets is based on the presence of these typical clinical symptoms and radiological findings on X-rays of the wrist or knee, showing metaphyseal fraying and widening of growth plates, in conjunction with elevated serum levels of alkaline phosphatase. Nutritional rickets due to vitamin D deficiency and/or dietary calcium deficiency is the most common cause of rickets. Currently, more than 20 acquired or hereditary causes of rickets are known. The latter are due to mutations in genes involved in vitamin D metabolism or action, renal phosphate reabsorption, or synthesis, or degradation of the phosphaturic hormone fibroblast growth factor 23 (FGF23). There is a substantial overlap in the clinical features between the various entities, requiring a thorough workup using biochemical analyses and, if necessary, genetic tests. Part I of this review focuses on the etiology, pathophysiology and clinical findings of rickets followed by the presentation of a diagnostic approach for correct diagnosis. Part II focuses on the management of rickets, including new therapeutic approaches based on recent clinical practice guidelines.
Topics: Alkaline Phosphatase; Child; Fibroblast Growth Factors; Humans; Infant; Phosphates; Rickets; Vitamin D Deficiency
PubMed: 34910242
DOI: 10.1007/s00467-021-05328-w -
Bone Feb 2023Dysosteosclerosis (DSS) refers to skeletal dysplasias that radiographically feature focal appendicular osteosclerosis with variable platyspondyly. Genetic heterogeneity...
Dysosteosclerosis (DSS) refers to skeletal dysplasias that radiographically feature focal appendicular osteosclerosis with variable platyspondyly. Genetic heterogeneity is increasingly reported for the DSS phenotype and now involves mutations of SLC29A3, TNFRSF11A, TCIRG1, LRRK1, and CSF1R. Typical radiological findings are widened radiolucent long bones with thin cortices yet dense irregular metaphyses, flattened vertebral bodies, dense ribs, and multiple fractures. However, the radiographic features of DSS evolve, and the metaphyseal and/or appendicular osteosclerosis variably fades with increasing patient age, likely due to some residual osteoclast function. Fractures are the principal presentation of DSS, and may even occur in infancy with SLC29A3-associated DSS. Cranial base sclerosis can lead to cranial nerve palsies such as optic atrophy, and may be the initial presentation, though not observed with SLC29A3-associated DSS. Gene-specific extra-skeletal features can be the main complication in some forms of DSS such as CSF1R- associated DSS. Further genetic heterogeneity is likely, especially for X-linked recessive DSS and cases currently with an unknown genetic defect. Distinguishing DSS can be challenging due to variable clinical and radiological features and an evolving phenotype. However, defining the DSS phenotype is important for predicting complications, prognosis, and instituting appropriate health surveillance and treatment.
Topics: Humans; Osteopetrosis; Osteosclerosis; Osteochondrodysplasias; Mutation; Vacuolar Proton-Translocating ATPases; Nucleoside Transport Proteins
PubMed: 36402365
DOI: 10.1016/j.bone.2022.116615 -
Journal of Children's Orthopaedics Aug 2019In 1959, Maroteaux and Lamy initially designated pseudoachondroplasia as a distinct dysplasia different from achondroplasia the most common form of skeletal dysplasia....
PURPOSE
In 1959, Maroteaux and Lamy initially designated pseudoachondroplasia as a distinct dysplasia different from achondroplasia the most common form of skeletal dysplasia. Pseudoachondroplasia is caused by a mutation in the collagen oligomeric matrix protein gene (COMP) gene on chromosome 19p13.1-p12 encoding the COMP. The COMP gene mutations result in rendering the articular and growth plate cartilages incapable of withstanding routine biomechanical loads with resultant deformity of the joints. The purpose of the study was to characterize the typical orthopaedic findings in pseudoachondroplasia.
METHODS
The charts and radiographs of 141 patients with pseudoachondroplasia were analyzed. This cohort, to our knowledge, represents the largest group of patients describing the typical orthopaedic manifestations of pseudoachondroplasia.
RESULTS
Patients with pseudoachondroplasia have normal craniofacial appearance with normal intelligence. Short stature is not present at birth and generally appears by two to four years of age. The condition is a form of spondyloepiphyseal dysplasia and the long bones are characterized by dysplastic changes in the epiphysis, metaphysis and vertebral bodies. Radiographically the long bones have altered the appearance and structure of the epiphyses with small irregularly formed or fragmented epiphyses or flattening. The metaphyseal regions of the long bones show flaring, widening or 'trumpeting'. The cervical (89%) and thoracic and lumbar vertebrae show either platyspondyly, ovoid, 'cod-fish' deformity or anterior 'beaking'. Kyphosis (28%), scoliosis (58%) and lumbar lordosis (100%) are commonly seen. The femoral head and acetabulum are severely dysplastic (100%). The knees show either genu valgum (22%), genu varum (56%) or 'windswept' deformity (22%).
CONCLUSION
Most commonly these distortions of the appendicular and the axial skeleton lead to premature arthritis particularly of the hips and often the knees not uncommonly in the 20- to 30-year-old age group.
LEVEL OF EVIDENCE
III.
PubMed: 31489048
DOI: 10.1302/1863-2548.13.190066 -
AJR. American Journal of Roentgenology Dec 2022Despite evidence supporting the specificity of classic metaphyseal lesions (CML) for the diagnosis of child abuse, some medicolegal practitioners claim that CML result...
Despite evidence supporting the specificity of classic metaphyseal lesions (CML) for the diagnosis of child abuse, some medicolegal practitioners claim that CML result from rickets rather than trauma. The purpose of this study was to evaluate radiologists' diagnostic performance in differentiating rickets and CML on radiographs. This retrospective seven-center study included children younger than 2 years who underwent knee radiography from January 2007 to December 2018 and who had either rickets (25-hydroxyvitamin D level < 20 ng/mL and abnormal knee radiographs) or knee CML and a diagnosis of child abuse from a child abuse pediatrician. Additional injuries were identified through medical record review. Radiographs were cropped and zoomed to present similar depictions of the knee. Eight radiologists independently interpreted radiographs for diagnoses of rickets or CML, rated confidence levels, and recorded associated radiographic signs. Seventy children (27 girls, 43 boys) had rickets; 77 children (37 girls, 40 boys) had CML. Children with CML were younger than those with rickets (mean, 3.7 vs 14.2 months, < .001; 89.6% vs 5.7% younger than 6 months; 3.9% vs 65.7% older than 1 year). All children with CML had injuries in addition to the knee CML identified at physical examination or other imaging examinations. Radiologists had almost perfect agreement for moderate- or high-confidence interpretations of rickets (κ = 0.92) and CML (κ = 0.89). Across radiologists, estimated sensitivity, specificity, and accuracy for CML for moderate- or high-confidence interpretations were 95.1%, 97.0%, and 96.0%. Accuracy was not significantly different between pediatric and nonpediatric radiologists ( = .20) or between less experienced and more experienced radiologists ( = .57). Loss of metaphyseal zone of provisional calcification, cupping, fraying, and physeal widening were more common in rickets than CML, being detected in less than 4% of children with CML. Corner fracture, bucket-handle fracture, subphyseal lucency, deformed corner, metaphyseal irregularity, and subperiosteal new bone formation were more common in CML than rickets, being detected in less than 4% of children with rickets. Radiologists had high interobserver agreement and high diagnostic performance for differentiating rickets and CML. Recognition that CML mostly occur in children younger than 6 months and are unusual in children older than 1 year may assist interpretation. Rickets and CML have distinct radiographic signs, and radiologists can reliably differentiate these two entities.
Topics: Male; Female; Humans; Child; Infant; Child, Preschool; Retrospective Studies; Rickets; Radiography; Bone and Bones; Child Abuse; Fractures, Bone; Radiologists
PubMed: 35792137
DOI: 10.2214/AJR.22.27729 -
Journal of Pediatric Orthopedics Jul 2020Arthropathies and bone deformities are well known to occur in patients with thalassemia major and have been attributed to the disease or to its therapy. Before the...
BACKGROUND
Arthropathies and bone deformities are well known to occur in patients with thalassemia major and have been attributed to the disease or to its therapy. Before the advent of chelation therapy, these children developed widened diploic space and "hair-on-end" pattern in skull, "cobweb" pattern in the pelvis, and the lack of the normal concave outline in the long bones because of extensive marrow proliferation. After the introduction of iron-chelation therapy, these patients were noted to develop metaphyseal abnormalities and vertebral changes resembling spondylo-metaphyseal dysplasia. Only one study has shown some association of deferiprone (chelating agent) use with distal ulnar changes in these children. Our study was done to describe the skeletal changes and deformities in wrist joints of children with transfusion-dependent thalassemia and correlate them with age, mean pretransfusion hemoglobin level, mean serum ferritin level, and type and duration of chelation therapy in these children.
METHODS
A total of 60 children with transfusion-dependent thalassemia from the thalassemia daycare center were examined. These children were divided into 3 groups on the basis of their age (group A: 2 to 6 y, group B: 6 to 10 y, and group C: 10 to 14 y). Detailed history, including treatment history, number of blood transfusions received over the last 1 year, clinical examination, and radiologic assessment of both forearm with wrists were done.
RESULTS
The clinical and radiologic differences in radial and ulnar lengths increased significantly with the increasing age of these patients, the ulna being short. There was some correlation between increasing negative ulnar variance and distal radial articular angle with deferiprone consumption.
CONCLUSION
Chelation therapy, particularly with deferiprone, may cause distal ulnar growth arrest causing ulnar shortening and progressive radial bowing in these children.
LEVEL OF EVIDENCE
Level IV-case series.
Topics: Adolescent; Blood Transfusion; Chelation Therapy; Child; Child, Preschool; Deferiprone; Female; Forearm; Humans; Iron Chelating Agents; Joint Diseases; Male; Radiography; Radius; Ulna; Wrist; Wrist Joint; beta-Thalassemia
PubMed: 32501918
DOI: 10.1097/BPO.0000000000001523 -
Ulusal Travma Ve Acil Cerrahi Dergisi =... Aug 2022Management of unstable tibial fractures (UTF) can be challenging due to widening of the proximal and distal metaphyseal zone, soft tissue problems, and poor vascularity....
BACKGROUND
Management of unstable tibial fractures (UTF) can be challenging due to widening of the proximal and distal metaphyseal zone, soft tissue problems, and poor vascularity. We aimed to compare the effect of novel tibial orthopedic reduction support (TORS) frame constructed by re-used tubular external fixator systems and manual traction with regard to the quality of re-duction, and fracture healing.
METHODS
A total of 65 patients who were admitted with UTF and underwent intramedullary nailing were assessed; 43 patients un-derwent manual traction technique, and 22 patients underwent TORS technique. The sagittal and coronal plane angulations were eval-uated in initial postoperative radiographs, and radiologic union scores for tibial fractures (RUST) were compared at follow-up X-rays.
RESULTS
The mean age of patients was 43.49±19.09 years in the manual-traction group and 43.41±16.8 years in the TORS group. The mean coronal plane angulation was 1.84±3.16 in the manual traction group and 1.86±4.21 in the TORS group. The mean sagittal plane angulation was 1.19±1.93 in manual traction group and 0.32±0.65 in the TORS group. The number of coronal and sagittal plane angulations >5° was higher in manual traction group than TORS group. The mean RUST was significantly higher in the TORS group than in the manual traction group at 6th, 9th, and 12th-month controls. The union rates were also higher in the TORS group at 9th and 12th-month controls.
CONCLUSION
TORS frame is a simple and cheap technique and should be considered as reduction support in the management of UTF by intramedullary nailing.
Topics: Adult; Bone Nails; Fracture Fixation, Intramedullary; Fracture Healing; Humans; Middle Aged; Retrospective Studies; Tibial Fractures; Treatment Outcome; Young Adult
PubMed: 35920423
DOI: 10.14744/tjtes.2021.47225 -
Acta Ortopedica Brasileira 2022Many experimental models exist to better understand the necrosis of the femoral head etiology, both in terms of the species variety in which necrosis is induced and in...
UNLABELLED
Many experimental models exist to better understand the necrosis of the femoral head etiology, both in terms of the species variety in which necrosis is induced and in the operative techniques used for treatment.
OBJECTIVE
This study has two main objectives, the first is to review the literature concerning experimental models of avascular necrosis of the growing femoral head, the second, to demonstrate the experimental pig model's reproducibility using a pilot study.
METHODS
This was a bibliographic review to describe the attempts over time to find the best species and technique for induction that would reproduce ischemic necrosis of the growing femoral head in humans. Simultaneously, a pilot study was performed to verify the replication of induction in pigs, the species that has more similarities with the human hip. The pilot's methodological analysis consists of conventional radiology and verification of possible anatomical, pathological changes.
RESULTS
In imaging exams; lateral sub-dislocation of the femur head and triangular appearance of the head were observed, characterizing its flattening; in macroscopic examination, the femoral head flattening with femoral neck widening and shortening was identified; in histology, the proliferation of articular cartilage with the presence of vascular granulation regenerative tissue, with osteoclasts and fibrocartilaginous tissue in the metaphyseal femoral neck region was identified.
CONCLUSION
The experimental pig model can be used as a valuable tool for the reproducibility of anatomical, pathological changes in ischemic necrosis of the growing femoral head. The model is reproducible and feasible and can be beneficial for future studies on the anatomical pathology of necrosis of the growing femoral head. .
PubMed: 35719181
DOI: 10.1590/1413-785220223002247996 -
Skeletal Radiology Jan 2020To examine the association between rachitic changes and vitamin D levels in children less than 2 years old with fractures. (Observational Study)
Observational Study
OBJECTIVE
To examine the association between rachitic changes and vitamin D levels in children less than 2 years old with fractures.
METHODS
Children less than 2 years old who were admitted to a large children's hospital for a fracture and underwent a skeletal survey were included. Two pediatric radiologists blinded to the children's vitamin D levels independently reviewed the skeletal surveys for the following rachitic findings: demineralization, widened sutures, rachitic rosary, Looser zones, and metaphyseal changes. Kappa coefficients were calculated to assess inter-rater agreement. Logistic regression was used to test the association between vitamin D level and rachitic findings.
RESULTS
There were 79 subjects (40 female and 39 male) with a median age of 4 months. Vitamin D levels ranged from 11.6 to 88.9 ng/ml and were low in 27. Questionable demineralization was noted in seven subjects; mild to moderate demineralization was observed in four subjects. Widened sutures were noted in seven subjects, many also with concurrent intracranial hemorrhage. Lower vitamin D levels were associated with increased odds of demineralization after adjusting for age, gender, and prematurity (P < 0.015). An association was not found between the vitamin D level and suture widening (P = 0.07). None of the cases demonstrated Looser zones, rachitic rosary, or metaphyseal changes of rickets.
CONCLUSIONS
Infants and toddlers with fractures frequently have suboptimal vitamin D levels, but radiographic evidence of rickets is uncommon in these children.
Topics: Female; Fractures, Bone; Humans; Infant; Infant, Newborn; Male; Rickets; Vitamin D; Vitamin D Deficiency
PubMed: 31243488
DOI: 10.1007/s00256-019-03261-6