Validation of automated bone age analysis from hand radiographs in a North American pediatric population.

BACKGROUND: Radiographic bone age assessment by automated software is precise and instantaneous. OBJECTIVE: The aim of this study was to evaluate the accuracy of an automated tool for bone age assessment. MATERIALS AND METHODS: We compared a total of 586 bone age radiographs from 451 patients, which had been assessed by three radiologists from 2013 to 2018, with bone age analysis by BoneXpert, using the Greulich and Pyle method. We made bone age comparisons in different patient groups based on gender, diagnosis and race, and in a subset with repeated bone age studies. We calculated Spearman correlation (r) and accuracy (root mean square error, or R2). RESULTS: Bone age analyses by automated and manual assessments showed a strong correlation (r=0.98; R2=0.96; P<0.0001), with the mean bone age difference of 0.12±0.76 years. Bone age comparisons by the two methods remained strongly correlated (P<0.0001) when stratified by gender, common endocrine conditions including growth disorders and early/precocious puberty, and race. In the longitudinal analysis, we also found a strong correlation between the automated software and manual bone age over time (r=0.7852; R2=0.63; P<0.01). CONCLUSION: Automated bone age assessment was found to be reliable and accurate in a large cohort of pediatric patients in a clinical practice setting in North America.

Radiographic timelines for pediatric healing fractures: a systematic review.

Skeletal fractures, a common injury in physically abused children, often go undetected and untreated for significant lengths of time and are sometimes incidentally discovered radiographically. Our objective was to review current literature for scientific studies of pediatric fracture healing with associated timelines. We conducted a search of Embase, EBSCOhost, MEDLINE (PubMed), and Web of Science for literature published from the earliest available up to August 2018. We evaluated the included articles for quality, with consideration for use in clinical and forensic settings. Of a total of 313 full-text articles evaluated, 10 met study inclusion criteria. The patient age range among studies was 0-17 years, with children younger than 1 year included in the majority of studies. The fracture locations included in studies were primarily fractures of the upper limb and pectoral girdle, followed by fractures of the lower limb. The radiographic features of healing varied greatly among the studies. Timelines of common fracture healing variables differed significantly among studies. Scientific, radiographic studies of pediatric fracture healing are limited. Gaps in knowledge regarding fracture healing highlight the need for future research and validation studies. Fracture healing timelines derived from existing timelines should be used with caution.

Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree.

A 4-yr-old female with congenital knee dislocations and joint laxity was noted to have a strong maternal family history comprising multiple individuals with knee problems and clubfeet. As the knee issues were the predominant clinical features, clinical testing included sequencing of LMX1B, TBX2, and TBX4, which identified no significant variants. Research genome sequencing was performed in the proband, parents, and maternal grandfather. A heterozygous in-frame deletion in FLNB c. 5468_5470delAGG, which predicts p.(Glu1823del), segregated with the disease. The variant is rare in the gnomAD database, removes a residue that is evolutionarily conserved, and is predicted to alter protein length. Larsen syndrome may present with pathology that primarily involves one joint and thus may be difficult to differentiate clinically from other skeletal dysplasias or arthrogryposis syndromes. The p.(Glu1823del) variant maps to a filamin repeat domain where other disease-causing variants are clustered, consistent with a probable gain-of-function mechanism. It has reportedly been observed in two individuals in the gnomAD database, suggesting that mild presentations of Larsen syndrome, like the individual reported here, may be underdiagnosed in the general population.

Free-floating Paratesticular Calcifying Fibrous Pseudotumors in a Pediatric Patient.

Paratesticular masses are a relatively common finding in males. The majority are benign, as opposed to testis masses, which tend to be malignant. Fibrous pseudotumors are rare, but are the third most common paratesticular tumor after adenomatoid and lipoma. The exact cause is unclear but likely from a fibroinflammatory reaction. Because of the non-specific findings on physical exam and scrotal ultrasound, patients may undergo scrotal exploration and occasionally orchiectomy, in spite of the benign nature of this lesion. Here we report the rare case of free-floating paratesticular calcifying fibrous pseudotumors in a prepubertal patient.

The classic metaphyseal lesion and traumatic injury.

BACKGROUND: It is widely accepted that the classic metaphyseal lesion (CML) is a traumatic lesion, strongly associated with abuse in infants. Nevertheless, various non-traumatic origins for CMLs continue to be suggested in medical and legal settings. No studies to date systematically describe the association of CMLs with other traumatic injuries. OBJECTIVE: The primary objective of this study is to examine the association of CMLs with other traumatic injuries in a large data set of children evaluated for physical abuse. MATERIALS AND METHODS: This was a retrospectively planned secondary analysis of data from a prospective, observational study of children <120 months of age who underwent evaluation by a child abuse physician. For this secondary analysis, we identified all children ≤12 months of age with an identified CML and determined the number and type of additional injuries identified. Descriptive analysis was used to report frequency of additional traumatic injuries. RESULTS: Among 2,890 subjects, 119 (4.1%) were identified as having a CML. Of these, 100 (84.0%) had at least one additional (non-CML) fracture. Thirty-three (27.7%) had traumatic brain injury. Nearly half (43.7%) of children had cutaneous injuries. Oropharyngeal injuries were found in 12 (10.1%) children. Abdominal/thoracic injuries were also found in 12 (10.1%) children. In all, 95.8% of children with a CML had at least one additional injury; one in four children had three or more categories of injury. CONCLUSION: CMLs identified in young children are strongly associated with traumatic injuries. Identification of a CML in a young child should prompt a thorough evaluation for physical abuse.

Standardization of patellofemoral morphology in the pediatric knee.

BACKGROUND: Our understanding of osseous morphology and pathology of the patellofemoral joint continues to improve with the use of magnetic resonance imaging (MRI), but a paucity of data currently exists in the pediatric population. OBJECTIVE: We aim to formulate a reproducible means of quantitative assessment of patellofemoral morphology in children using MRI and to describe morphological changes based on sex and age. MATERIALS AND METHODS: We identified 414 children presenting between 2002 and 2014 who obtained a knee MRI to evaluate for knee pain or clinically suspected knee pathology. After application of inclusion criteria, 144 "normal" MRIs in 131 children (71 boys, 60 girls) were included in the analysis. The following MRI measurements were recorded: lateral trochlear inclination, trochlear facet asymmetry, trochlear depth, tibial tuberosity-trochlear groove distance, sulcus angle and patellar height ratio. To assess intraobserver reliability, measurements in 30 randomly selected children were repeated. Differences between patient age and sex were assessed using independent t-tests and adjusted regression analysis. RESULTS: All recorded measurements had strong to very strong inter- and intraobserver reliability: lateral trochlear inclination (0.91/0.82), trochlear facet asymmetry (0.81/0.83), trochlear depth (0.83/0.90), tibial tuberosity-trochlear groove distance (0.97/0.87), sulcus angle (0.84/0.78) and patellar height ratio (0.96/0.83). When age and sex were mutually adjusted, statistically significant differences between males and females were observed in trochlear depth (P = 0.0084) and patellar height ratio (P = 0.0035). However, statistically significant age differences were found on all measurements except for lateral trochlear inclination. As expected, mean measurement values approached adult norms throughout skeletal maturation suggestive of age-dependent patellofemoral maturation. CONCLUSION: Our data verify the development of patellofemoral morphology with advancing age. We found that six of the most commonly used patellofemoral measurements in adults can be accurately reproduced regardless of age.

Diffuse intestinal ganglioneuromatosis in a child.

A 7 year old male with a history of congenital neutropenia and growth hormone deficiency presented with abdominal pain, fevers, and diarrhea. Imaging and endoscopy revealed significant inflammation of the ascending colon with stenosis at the level of the hepatic flexure. A right hemicolectomy was performed, and pathologic findings were consistent with diffuse intestinal ganglioneuromatosis. Due to recurrent mass effect at the intestinal anastomotic site detected radiologically, a second intestinal resection was performed 7 months later. Genetic testing was negative for mutations in the RET protooncogene, NF1 and PTEN tumor suppressor genes. We report a case of diffuse intestinal ganglioneuromatosis in a child with congenital neutropenia.

Age-dependent dynamic sonographic measurement of pediatric clubfoot.

BACKGROUND: US shows promise in evaluating clubfeet. In order to assess responses to therapy, the measurements of normal feet and clubfeet must be known. OBJECTIVE: To investigate the role of US measurement in quantitatively evaluating normal feet and clubfeet in children, and to assess changes in these feet with age. MATERIALS AND METHODS: Patients <1 year old with unilateral or bilateral clubfoot deformity underwent US examination of the foot with specific attention to the medial malleolar to navicular (MMN) distance. Measurements were made in neutral and full adduction positions, and in the abduction position simulating the Ponseti maneuver. Children undergoing US for other reasons had the same imaging performed and served as controls. RESULTS: A total of 127 feet in 66 children were evaluated (20 children had bilateral clubfeet, 25 had unilateral clubfoot, and 21 had normal feet). Clubfeet had significantly (P < 0.001) lower MMN measurements at all three positions than control feet. These distances increased with patient age for both normal feet and clubfeet, but the rate of increase was less for clubfeet. CONCLUSION: Normal feet and clubfeet exhibit marked differences in MMN distances, as well as differences in rate of change over time. By understanding the age-dependent variability of normal feet and clubfeet, dynamic sonography can help assess clubfoot anatomy and could help to assess the effect of treatment interventions.

Focused dynamic sonographic examination of the congenital clubfoot.

BACKGROUND: US readily demonstrates cartilaginous structures, and static sonography has shown potential in evaluating clubfoot deformity. OBJECTIVE: To investigate the potential of dynamic sonography in the evaluation of the congenital clubfoot. MATERIALS AND METHODS: Sonography was used for static and dynamic stress evaluation of 13 clubfeet and 35 normal feet in 24 patients (ages 0-32 weeks). Dynamic foot sonography was performed using a single-operator bimanual scanning technique. The examination involved coronal oblique evaluation of the medial malleolar-navicular (MMN) distance and the calcaneocuboid relationship, sagittal evaluation of the talonavicular relationship, and transverse evaluation of navicular subluxation, rotation, and deformation. Dynamic abduction/adduction stress maneuvers were performed, measured by the MMN. RESULTS: The clubfoot "gristle" is a consistent, measurable soft-tissue landmark in clubfeet, connecting the medial malleolus to the medial navicular and talus. Mean MMN distances in clubfeet in the neutral position and abduction were significantly different from these distances in the normal paired foot (differences of 8.7 mm neutral position and 7.94 mm abduction), as compared to bilateral normal feet (differences of 0.98 mm neutral position and 1.43 mm abduction). Navicular subluxation showed good correlation between highly deformed and subluxated navicular bones and a tight medial clubfoot complex. CONCLUSIONS: Focused dynamic foot sonography is useful in providing a specific and detailed functional preoperative and/or postoperative assessment of the congenital clubfoot.

Pulmonary hyalinizing granuloma and retroperitoneal fibrosis in an adolescent.

We describe a 15-year-old boy who developed pulmonary hyalinizing granuloma (PHG) and retroperitoneal fibrosis (RPF). His PHG and RPF were not associated with histoplasmosis or tuberculosis and appeared to represent idiopathic autoimmune phenomena. This is the first reported case of PHG in a pediatric patient and the fourth reported co-occurrence of PHG and RPF. The use of F-18 fluorodeoxyglucose positron emission tomography in the diagnostic and follow-up evaluation of PHG is reported.

Comparison of quiet breathing and controlled ventilation in the high-resolution CT assessment of airway disease in infants with cystic fibrosis.

BACKGROUND: Respiratory motion and low lung volumes limit the quality of HRCT examinations in infants and young children. OBJECTIVE: To assess the effects of respiratory motion and lung inflation on the ability to diagnose airway abnormalities and air trapping (AT) using HRCT in infants with cystic fibrosis (CF). MATERIALS AND METHODS: HRCT images of the lungs were obtained at four anatomical levels in 16 sedated children (age 2.4+/-1.1 years, mean+/-SD) with CF using controlled ventilation at full lung inflation (CVCT-I), at resting end exhalation (CVCT-E), and during quiet breathing (CT-B). Two blinded reviewers independently and then by consensus scored all images for the presence or absence of bronchiectasis (BE), bronchial wall thickening (BWT), and AT. RESULTS: Of the 64 images evaluated, BE was identified in 19 (30%) of the CVCT-I images compared to 6 (9%) of the CVCT-E images (P=0.006) and 4 (6%) of the CT-B images (P=0.044). AT was seen in 29 (45%) of the CVCT-E images compared to 14 (22%) of the CVCT-I images (P=0.012) and 12 (19%) of the CT-B images (P=0.012). There were no significant differences in the detection of BWT among the three methods. SUMMARY: In infants with CF, fully inflating the lung improved the ability to diagnose early BE, and obtaining motion-free images at end exhalation enhanced the detection of AT.

Lateral thoracic expansion for Jeune syndrome: evidence of rib healing and new bone formation.

BACKGROUND: Lateral thoracic expansion is a procedure that has been described to enlarge the thoracic cage in patients with Jeune's asphyxiating thoracic dystrophy. The procedure involves separating ribs from their periosteum and plating them together in an expanded fashion with titanium struts. We have speculated that the ribs heal in this situation, despite the absence of surrounding periosteum, and that new rib formation occurs in the liberated periosteum. METHODS: Radiographic studies of patients who have undergone lateral thoracic expansion were reviewed for evidence of rib healing or periosteal new bone formation. RESULTS: This study presents radiologic evidence that rib healing actually occurs, as does periosteal ossification. CONCLUSIONS: Lateral thoracic expansion creates additional chest wall that is formed of autologous tissue, fully healed, and not ultimately dependent on titanium struts.

Coincidence FDG-PET in the evaluation of Langerhans' cell histiocytosis: preliminary findings.

BACKGROUND: Bone involvement in Langerhans' cell histiocytosis (LCH) is common. Both bone scintigraphy and plain films are used to identify osseous lesions, but lack specificity for disease activity and response to therapy. FDG-PET is a sensitive technique for identifying bone lesions when histiocytes are present. OBJECTIVE. To describe the potential of coincidence FDG-PET (cFDG-PET) for identification of active bone lesions in LCH and to determine whether it can provide more specific information regarding lesional response to therapy than bone scintigraphy or radiography. MATERIALS AND METHODS: The clinical data and imaging findings of three patients with osseous lesions of LCH were retrospectively reviewed. RESULTS: cFDG-PET identified all active LCH osseous lesions in these patients, differentiated active from healed lesions, and demonstrated normalization of uptake in a treated lesion earlier than bone scintigraphy and radiography. CONCLUSION: cFDG-PET appears to have greater specificity than bone scintigraphy and radiography for the identification of active osseous lesions in LCH. It also may predict response to treatment earlier than conventional techniques. Its use in the evaluation of LCH warrants further study.

Congenital piriform fossa sinus tract presenting as an asymptomatic neck mass in an infant.

BACKGROUND: A 5-month-old girl with an asymptomatic left-sided neck mass was demonstrated by ultrasound and upper gastrointestinal series (UGI), and confirmed at surgery, to have a congenital piriform fossa sinus tract (CPFST) that communicated with an intrathyroidal cyst. OBJECTIVE: To demonstrate a case of CPFST presenting as an asymptomatic neck mass. Nearly all cases of CPFST present with infection or pain, making this case unique. MATERIALS AND METHODS: Case report and review of the literature. CONCLUSIONS: CPFST with an associated cyst should be added to the differential diagnosis of asymptomatic cystic neck masses in infants, especially if the cyst is intrathyroidal by ultrasound.