Osteopetrorickets: two contradictory patterns-one unifying diagnosis.

A 5-month-old infant with bone findings on x-ray presented an apparent contradiction including findings of both diffusely dense bones and rickets in the context of a history and laboratory investigation that suggested leukemia. Next generation gene panel sequencing revealed a TCIRG1 mutation which is consistent with autosomal recessive osteopetrosis. The paradoxical x-ray findings underscore a recently elucidated mechanism for the pathogenesis of a TCIRG mutation. This case highlights the importance of recognizing this radiographic, seeming contradictory, association in the context of a confusing clinical presentation. Failure to recognize this pattern promptly may lead to a delay in diagnosis, thus potentially permanent organ failure.

Radiologists' Diagnostic Performance in Differentiation of Rickets and Classic Metaphyseal Lesions on Radiographs: A Multicenter Study.

BACKGROUND. 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. OBJECTIVE. The purpose of this study was to evaluate radiologists' diagnostic performance in differentiating rickets and CML on radiographs. METHODS. 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. RESULTS. 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, p < .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 (p = .20) or between less experienced and more experienced radiologists (p = .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. CONCLUSION. 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. CLINICAL IMPACT. Rickets and CML have distinct radiographic signs, and radiologists can reliably differentiate these two entities.

Raquitismo carencial como hallazgo incidental / Deficiency rickets as an incidental finding

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Raquitismo carencial en un paciente de raza negra / Vitamin D deficiency as cause of rickets in a patient of African origin

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Vitamin D, rickets and child abuse: controversies and evidence.

Suboptimal vitamin D status is a global health issue that affects children and adults worldwide. The prevalence of vitamin D deficiency and insufficiency has been well documented in the pediatric population in the United States. Although vitamin D deficiency is common, radiographic findings are uncommon and can be subtle. Additionally, because of the high prevalence of pediatric vitamin D insufficiency, it is commonly identified in young children with fractures. However, the majority of pediatric fractures are caused by trauma to healthy bones. Some, especially in infants and toddlers, are caused by non-accidental trauma. A small percentage is related to medical disease, including those associated with disorders of collagen, disorders of mineralization, and non-fracture mimics. Despite the scientific evidence, among disorders of mineralization, non-rachitic disorders of vitamin D have become a popular non-scientific theory to explain the fractures identified in abused children. Although infants and young children with rickets can fracture bones, the vast majority of fractures identified in abused infants are not caused by bone disease. Here we present a review of the literature on bone disease in the setting of accidental and non-accidental trauma. This context can help physicians remain vigilant about identifying vulnerable young children whose injuries are caused by non-accidental trauma.

Artificial intelligence research within reach: an object detection model to identify rickets on pediatric wrist radiographs.

BACKGROUND: Artificial intelligence models have been successful in analyzing ordinary photographic images. One type of artificial intelligence model is object detection, where a labeled bounding box is drawn around an area of interest. Object detection can be applied to medical imaging tasks. OBJECTIVE: To demonstrate object detection in identifying rickets and normal wrists on pediatric wrist radiographs using a small dataset, simple software and modest computer hardware. MATERIALS AND METHODS: The institutional review board at Children's Healthcare of Atlanta approved this study. The radiology information system was searched for radiographic examinations of the wrist for the evaluation of rickets from 2007 to 2018 in children younger than 7 years of age. Inclusion criteria were an exam type of "Rickets Survey" or "Joint Survey 1 View" with reports containing the words "rickets" or "rachitic." Exclusion criteria were reports containing the words "renal," "kidney" or "transplant." Two pediatric radiologists reviewed the images and categorized them as either rickets or normal. Images were annotated by drawing a labeled bounding box around the distal radial and ulnar metaphases. The training dataset was created from images acquired from Jan. 1, 2007, to Dec. 31, 2017. This included 104 wrists with rickets and 264 normal wrists. This training dataset was used to create the object detection model. The testing dataset consisted of images acquired during the 2018 calendar year. This included 20 wrists with rickets and 37 normal wrists. Model sensitivity, specificity and accuracy were measured. RESULTS: Of the 20 wrists with rickets in the testing set, 16 were correctly identified as rickets, 2 were incorrectly identified as normal and 2 had no prediction. Of the 37 normal wrists, 33 were correctly identified as normal, 2 were incorrectly identified as rickets and 2 had no prediction. This yielded a sensitivity and specificity of 80% and 95% for wrists with rickets and 89% and 90% for normal wrists. Overall model accuracy was 86%. CONCLUSION: Object detection can identify rickets on pediatric wrist radiographs. Object detection models can be developed with a small dataset, simple software tools and modest computing power.

Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series.

AIM: To describe the demographic characteristics, risk factors, and presenting features of children with symptomatic nutritional rickets in France. METHODS: This is a retrospective study of 38 children diagnosed with nutritional rickets from 1998 to 2019. RESULTS: We observed a higher frequency of rickets in males (74 vs. 26%), in young children (median age at diagnosis: 23 months; 82% were younger than 5 years), and in children with a non-Caucasian ethnic background (89%). Most children were exclusively breastfed (78%) without adequate vitamin D supplementation (89%). The most common presentations were bowed legs (63%), hypocalcemic seizures (21%), and growth retardation (11%). Approximately half (62%) of the children were hypocalcemic. The children presenting with hypocalcemic seizures were significantly younger (0.8 vs. 2.2 years; p = 0.041) and had lower total serum calcium levels (1.44 vs. 2.17 mmol/L; p < 0.0001), higher phosphatemia (1.43 vs. 1.23 mmol/L; p = 0.020), and lower 25-hydroxy vitamin D levels (3 vs. 7 ng/mL; p = 0.020) but similar parathyroid hormone levels (357 vs. 289 ng/mL; p = 0.940) compared to rickets cases who did not experience hypocalcemic seizures. A dilated cardiomyopathy was detected in 14% of the children who had undergone echocardiography. CONCLUSION: Nutritional rickets remains endemic in the pediatric population and its most severe forms can have life-threatening sequelae. Health practitioners need to be cognizant of these facts to raise awareness and screen high-risk populations.

Rachitic change and vitamin D status in young children with fractures.

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.

Micro-CT assessment of dental mineralization defects indicative of vitamin D deficiency in two 17th-19th century Dutch communities.

OBJECTIVES: This study investigates vitamin D deficiency patterns in individuals from birth to the beginning of adolescence. Microscopic computed tomography (micro-CT) evaluation of interglobular dentine (IGD) in teeth provides information on the age of disease onset and the number of deficient periods per individual, which will increase our understanding of factors influencing vitamin D deficiency prevalence, including sociocultural practices and latitude. MATERIALS AND METHODS: Beemster and Hattem, two Dutch 17th-19th century communities, yielded relatively high prevalences of rickets (15-24%) and residual rickets (15-24%). From the affected individuals, a subsample of 20 teeth were selected for micro-CT scanning. Thin sections were made of 17 teeth, consisting of 6 teeth with and 11 teeth without observable IGD on micro-CT that were included for method comparison. RESULTS: About 19 out of 29 (65.5%) individuals (one tooth was deemed unobservable) presented with IGD on micro-CT. Eight of the 11 (72.7%) individuals without IGD on micro-CT demonstrated histologically visible IGD. In 40.7% (11/27) of the affected individuals (combined micro-CT and histology results), vitamin D deficiency was recurrent, and in four individuals, some episodes occurred at approximately annual intervals suggesting vitamin D deficiency was seasonal. In three individuals, IGD occurred in the dentine formed around birth, suggesting maternal vitamin D deficiency. DISCUSSION: Micro-CT analysis of IGD is found to be a valuable non-destructive method that can improve our understanding of the influence of sociocultural practices and latitude on disease development within age and sex groups in past communities.

Selective rickets from localized advanced maturation-a case report.

An unusual cause of rickets is illustrated by a patient with infantile multisystem inflammatory disease who, by age 2 years and 4 months, developed striking radiographic and clinical rickets restricted to those joints involved by the inflammatory process. The locally increased vascularity from his inflammation led to increased maturation at those sites so rapid as to override the usual enchondral calcification, thus causing a rickets pattern. Other sites, such as the proximal humeri, lacking any inflammation, showed no increased maturation rate and did not manifest local rickets. Rapid local bone maturation may cause localized rickets.

[Rickets and anaemia caused by coeliac disease in a three-year-old girl].

We present a case report of a three-year-old girl of Pakistani origin with coeliac disease. The first symptom was spontaneous fracture of the fibula. Vitamin D deficiency rickets and iron deficiency anaemia were demonstrated. An intestinal biopsy and elevated antibody levels confirmed the coeliac disease. Rickets is a known but rare presentation of coeliac disease, but this case report illustrates, how coeliac disease in children often presents with non-gastrointestinal symptoms. The importance of investigations for malabsorp-tion, if iron deficiency is not easily corrected with sufficient iron supplements, is underlined as well as the importance of screening for coeliac disease.

Cortical Matrix Mineral Density Measured Noninvasively in Pre- and Postmenopausal Women and a Woman With Vitamin D-Dependent Rickets.

Reduced bone mineral density (BMD) may be due to reduced mineralized bone matrix volume, incomplete secondary mineralization, or reduced primary mineralization. Because bone biopsy is invasive, we hypothesized that noninvasive image acquisition at high resolution can accurately quantify matrix mineral density (MMD). Quantification of MMD was confined to voxels attenuation photons above 80% of that produced by fully mineralized bone matrix because attenuation at this level is due to variation in mineralization, not porosity. To assess accuracy, 9 cadaveric distal radii were imaged at a voxel size of 82 microns using high-resolution peripheral quantitative computed tomography (HR-pQCT; XtremeCT, Scanco Medical AG, Bruttisellen, Switzerland) and compared with VivaCT 40 (µCT) at 19-micron voxel size. Associations between MMD and porosity were studied in 94 healthy vitamin D-replete premenopausal women, 77 postmenopausal women, and in a 27-year-old woman with vitamin D-dependent rickets (VDDR). Microstructure and MMD were quantified using StrAx (StraxCorp, Melbourne, Australia). MMD measured by HR-pQCT and µCT correlated (R = 0.87; p < 0.0001). The precision error for MMD was 2.43%. Cortical porosity and MMD were associated with age (r2 = 0.5 and -0.4, respectively) and correlated inversely in pre- and postmenopausal women (both r2 = 0.9, all p < 0.001). Porosity was higher, and MMD was lower, in post- than in premenopausal women (porosity 40.3% ± 7.0 versus 34.7% ± 3.5, respectively; MMD 65.4% ± 1.8 versus 66.6% ± 1.4, respectively, both p < 0.001). In the woman with VDDR, MMD was 5.6 SD lower and porosity was 5.6 SD higher than the respective trait means in premenopausal women. BMD was reduced (Z-scores femoral neck -4.3 SD, lumbar spine -3.8 SD). Low-radiation HR-pQCT may facilitate noninvasive quantification of bone's MMD and microstructure in health, disease, and during treatment. © 2018 American Society for Bone and Mineral Research.

The Primary Physis.

The primary physis is responsible for long bone growth in children and adolescents. Injury and physiologic or metabolic stress to the primary physis present unique radiologic findings that are important for radiologists to recognize and diagnose. Appreciation of the anatomy and histology of the primary physis forms the basis for understanding the imaging findings associated with pathologic conditions affecting the primary physis. Salter-Harris injuries, physeal bars, growth arrest lines, rickets, and focal periphyseal edema zones are common conditions with recognizable radiologic presentations. Proper diagnosis of these primary physeal conditions will aid in the treatment of affected pediatric patients.

Multiple unexplained fractures in infants and child physical abuse.

When an infant presents with X-rays showing multiple unexplained fractures in various stages of healing (MUFVSH), the child is usually diagnosed with child abuse based on criteria of the Academy of Pediatrics' Committee on Child Abuse and Neglect (AAPCCAAN). Almost always, the infant is subsequently removed from the home and civil or criminal proceeding commence. It may be that healing infantile rickets or other poorly understood metabolic bone disorders of infancy are responsible for these x-rays. Activated vitamin D is a seco-steroid hormone, whose mechanism of action is genetic regulation. Lack of it can result in musculoskeletal defects known as rickets. Low calcium can also cause rickets. However, it is clear that experts for the state believe that the x-rays in these cases are so definitive as to be pathognomonic for child abuse. Therefore, if the caregivers deny abusing their infants, experts following American Academy of Pediatric's Committee on Child Abuse and Neglect. guidelines are essentially claiming that x-rays showing multiple unexplained fractures in various stages of healing are lie detector tests. However, it is not widely appreciated that the gold standard for the diagnosis of rickets is a bone biopsy, not x-rays, as radiologists miss biopsy proven rickets 80% of the time; that is, 4 out of 5 infants with rickets will have normal x-rays. In this article we provide reports of two cases and their outcomes. We discuss information about healing infantile rickets and an example of common sense medical conclusions in these cases. This information could lead to a significant reduction in the number of innocent parents having their infant removed or sent to prison.

Children With Vitamin D Deficiency: Is A Wrist X-Ray Necessary?

BACKGROUND: Rickets is failure in mineralization of growing bone and cartilage due to extreme vitamin D deficiency (VDD). The study aimed to identify rickets among vitamin D deficient children and determine any relationship between clinical findings and paraclinical evidence. METHODS: This study was conducted in two stages. In the first stage, blood was drawn from 406 children aged 30-72 months for measurement of 25(OH)D level. Of these children, 108 had 25(OH)D levels of <20 ng/dL and were evaluated physically for signs and symptoms scores (0-1) of VDD and rickets. Biochemical analysis and radiography of the child's left wrist and hand was performed. RESULTS: Of the 119 children (29.67%) with 25(OH)D levels of <20 ng/dL, 42 (10.3%) had vitamin D levels of ≤15 ng/dL. There was no correlation between serum 25(OH)D level and levels of calcium (Ca) (r = -0.16), alkaline phosphatase (ALP) (r = -0.12), P (r = 0.13), and parathyroid hormone (PTH) (r = -0.15,) in children with VDD. The mean of signs and symptoms scores had no significant difference between children with (1.59 ± 0.8) and without (1.73 ± 1.01) VDD (P = 0.3). None of the children with VDD had radiographic evidence of rickets. Radiographic data showed that 69.2% (72), 10.6% (11), and 20.2% (21) of the children had delayed, normal, and advanced bone age, respectively. CONCLUSION: Abnormal radiological findings of rickets were not found on wrist X-rays. Thus, this investigation is not necessary within the range of vitamin D levels described in the current study.