Conservative Management of Transitional Ankle Fractures in Adolescents: A Pilot Study to Determine Whether Type of Immobilization Affects Outcome.

Intra-articular Tillaux and triplane ankle fractures are treated surgically when displaced. Minimally displaced fractures are treated with immobilization alone. Long leg casts (LLCs) are the most traditional method of immobilization because they can prevent weight bearing by flexing the knee and control ankle rotation. However, they also are heavy, decrease mobility, increase the area for contact dermatitis, and increase knee stiffness. Short leg casts (SLCs) may be adequate for these injuries. This study compared outcomes of adolescents with transitional ankle fractures treated in LLCs vs SLCs. All transitional ankle fractures treated with immobilization during 11 years at a multicenter children's health system were reviewed. Patients were grouped based on initial treatment with LLC vs SLC. Cases were analyzed for differences in demographics, length of treatment, weight-bearing status, outcomes, and complications. A total of 159 patients met inclusion criteria. Sixty-five were treated initially with LLCs and 94 were treated initially with SLCs, with no significant age difference between the groups. Computed tomography scans had been obtained for 55.4% of the patients with LLCs vs 29.8% of the patients with SLCs. Mean time in the initial cast was 24 days for both groups. Mean total time in any cast was 40 days for the LLC group vs 29 days for the SLC group. Mean time to weight bearing was 7 days shorter and return to full activity was 12 days shorter in the SLC group. There were no cases of fracture displacement, malunion, nonunion, or functional limitations. [Orthopedics. 2023;46(4):230-233.].

Alendronate Improves Bone Mineral Density in Children and Adolescents Perinatally Infected With Human Immunodeficiency Virus With Low Bone Mineral Density for Age.

BACKGROUND: Children and adolescents with perinatal human immunodeficiency virus (HIV) infection and with low bone mineral density (BMD) may be at higher risk of osteoporosis and fractures in later life than their uninfected peers. Bisphosphonate therapy has been shown to reduce fractures in adults with osteoporosis, but has not been formally studied in youths living with HIV. METHODS: Fifty-two children and adolescents (aged 11-24 years) perinatally infected with HIV with low lumbar spine (LS) BMD (Z score < -1.5) were randomized to receive once-weekly alendronate or placebo in a double-blind cross-over study designed to assess the safety and efficacy of 48 and 96 weeks of alendronate in the United States and Brazil. All participants received daily calcium carbonate and vitamin D supplementation and were asked to engage in regular weight-bearing exercise. Safety and efficacy are summarized for the initial 48 weeks of the trial. RESULTS: Grade 3 or higher abnormal laboratory values, signs, or symptoms developed in 5 of 32 (16%) participants on alendronate and 2 of 18 (11%) on placebo (P > .99). No cases of jaw osteonecrosis, atrial fibrillation, or nonhealing fractures were reported. Mean increases (95% confidence interval) in LS BMD over 48 weeks were significantly larger on alendronate (20% [14%-25%]) than placebo (7% [5%-9%]) (P < .001). Similar improvements were seen for whole body BMD. CONCLUSIONS: In this small study in children and adolescents perinatally infected with HIV with low LS BMD, 48 weeks of alendronate was well-tolerated, showed no safety concerns, and significantly improved LS and whole body BMD compared to participants on vitamin D/calcium supplementation and exercise alone. CLINICAL TRIALS REGISTRATION: NCT00921557.

Lung ultrasound as a diagnostic tool for radiographically-confirmed pneumonia in low resource settings.

BACKGROUND: Pneumonia is a leading cause of morbidity and mortality in children worldwide; however, its diagnosis can be challenging, especially in settings where skilled clinicians or standard imaging are unavailable. We sought to determine the diagnostic accuracy of lung ultrasound when compared to radiographically-confirmed clinical pediatric pneumonia. METHODS: Between January 2012 and September 2013, we consecutively enrolled children aged 2-59 months with primary respiratory complaints at the outpatient clinics, emergency department, and inpatient wards of the Instituto Nacional de Salud del Niño in Lima, Peru. All participants underwent clinical evaluation by a pediatrician and lung ultrasonography by one of three general practitioners. We also consecutively enrolled children without respiratory symptoms. Children with respiratory symptoms had a chest radiograph. We obtained ancillary laboratory testing in a subset. RESULTS: Final clinical diagnoses included 453 children with pneumonia, 133 with asthma, 103 with bronchiolitis, and 143 with upper respiratory infections. In total, CXR confirmed the diagnosis in 191 (42%) of 453 children with clinical pneumonia. A consolidation on lung ultrasound, which is our primary endpoint for pneumonia, had a sensitivity of 88.5%, specificity of 100%, and an area under-the-curve of 0.94 (95% CI 0.92-0.97) when compared to radiographically-confirmed clinical pneumonia. When any abnormality on lung ultrasound was compared to radiographically-confirmed clinical pneumonia the sensitivity increased to 92.2% and the specificity decreased to 95.2%, with an area under-the-curve of 0.94 (95% CI 0.91-0.96). CONCLUSIONS: Lung ultrasound had high diagnostic accuracy for the diagnosis of radiographically-confirmed pneumonia. Added benefits of lung ultrasound include rapid testing and high inter-rater agreement. Lung ultrasound may serve as an alternative tool for the diagnosis of pediatric pneumonia.

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.

Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage and bone. A large subgroup of GSDs has additional involvement of other structures/organs beside the skeleton, such as the central nervous system (CNS). CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. Sensitive and specific identification of CNS lesions while evaluating a child with a GSD requires a detailed knowledge of the possible associated CNS abnormalities. Here, we provide a pattern-recognition approach for neuroimaging findings in GSDs guided by the obvious skeletal manifestations of GSD. In particular, we summarize which CNS findings should be ruled out with each GSD. The diseases (n = 180) are classified based on the skeletal involvement (1. abnormal metaphysis or epiphysis, 2. abnormal size/number of bones, 3. abnormal shape of bones and joints, and 4. abnormal dynamic or structural changes). For each disease, skeletal involvement was defined in accordance with Online Mendelian Inheritance in Man. Morphological CNS involvement has been described based on extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. CNS involvement is common in GSDs. A wide spectrum of morphological abnormalities is associated with GSDs. Early diagnosis of CNS involvement is important in the management of children with GSDs. This pattern-recognition approach aims to assist and guide physicians in the diagnostic work-up of CNS involvement in children with GSDs and their management.

Extensively drug-resistant tuberculosis in a young child after travel to India.

Extensively drug-resistant (XDR) tuberculosis is becoming increasingly prevalent worldwide, but little is known about XDR tuberculosis in young children. In this Grand Round we describe a 2-year-old child from the USA who developed pneumonia after a 3 month visit to India. Symptoms resolved with empirical first-line tuberculosis treatment; however, a XDR strain of Mycobacterium tuberculosis grew in culture. In the absence of clinical or microbiological markers, low-radiation exposure pulmonary CT imaging was used to monitor treatment response, and guide an individualised drug regimen. Management was complicated by delays in diagnosis, uncertainties about drug selection, and a scarcity of child-friendly formulations. Treatment has been successful so far, and the child is in remission. This report of XDR tuberculosis in a young child in the USA highlights the risks of acquiring drug-resistant tuberculosis overseas, and the unique challenges in management of tuberculosis in this susceptible population.

Neonatal head ultrasonography today: a powerful imaging tool!

Head ultrasonography (HUS) remains an important tool in the initial evaluation of intracranial abnormalities in infants. In experienced hands, HUS is an outstanding tool to detect brain abnormalities in preterm and full-term infants, to follow the progression of these lesions, and to describe the maturation of the infant brain. We believe it is a safe and cost-efficient alternative to magnetic resonance imaging and computerized tomography in many cases. In this article we discuss the HUS techniques that are currently available and are now the standard of care, how to perform them, and what to look for. We describe a variety of findings that may be encountered including hemorrhagic complications of prematurity, hypoxic ischemic brain injury, neonatal stroke, infections, malformations, neoplasms, and a few more rare neonatal pathologies.

Diagnosis of rare association of orthotopic multicystic dysplasia with crossed fused renal ectopia.

Orthotopic multicystic dysplastic kidney with crossed fused ectopia is a rare congenital anomaly. This congenital anomaly may give an appearance of a solitary kidney morphology during the initial imaging evaluation. A solitary kidney should be carefully evaluated for the presence of duplication, horseshoe configuration, or crossed renal ectopy. Vesicoureteral reflux is a common finding associated with a multicystic dysplastic kidney. We present an infant with an orthotopic multicystic dysplastic kidney and an inferiorly placed crossed fused ectopic kidney. The presence of a complex congenital anomaly may warrant further evaluation with cross-sectional imaging to depict the anatomy and structure.

Clinicoradiological correlation of scoliosis in children with Jarcho-Levin and Escobar syndromes: associated "flat bone or wing-like" imaging findings.

UNLABELLED: Congenital or early onset scoliosis may be the lead clinical feature in several rare syndromes. In this paper, we present the imaging findings in two children with early onset scoliosis related to the Jarcho-Levin and Escobar syndromes and an osseous plate or wing-like bar extending along the posterior elements of the spine on computed tomography. The clinical phenotypes in these syndromes are variable. A thorough clinical evaluation with imaging correlation is essential. The recognition of underlying spinal anomalies is essential in planning treatment and estimating prognosis. In young children with progressive scoliosis, cross-sectional imaging plays a major role in the diagnostic work-up. CONCLUSION: Congenital scoliosis requires a comprehensive clinical evaluation and imaging work-up. The presence of an osseous plate or wing-like fusion of posterior elements of the spine may suggest the diagnosis of Jarcho-Levin and Escobar syndromes.

Evaluation of the ischemic penumbra focusing on the venous drainage: the role of susceptibility weighted imaging (SWI) in pediatric ischemic cerebral stroke.

BACKGROUND AND PURPOSE: Susceptibility weighted imaging (SWI) allows the study of the intracranial venous vasculature based on the paramagnetic susceptibility effects of deoxygenated blood. Prominent hypointense draining veins have been revealed in ischemic brain tissue by SWI. The goal of our study was to evaluate whether a match or mismatch between territorial changes in the venous drainage of ischemic brain tissue, as identified by SWI and diffusion restriction, can show a 'venous ischemic penumbra'. MATERIALS AND METHODS: Eight children with a confirmed diagnosis of acute pediatric arterial ischemic stroke (PAIS) were included in this preliminary study. All had undergone an acute standard magnetic resonance imaging (MRI) study with diffusion-weighted imaging (DWI) and SWI sequences. SWI scans were semi-quantitatively evaluated for signal intensity and caliber of both the intramedullary and sulcal veins. In addition, SWI abnormalities were compared with DWI images for match/mismatch of signal alterations, and the acute MRI data were compared with follow-up scans. RESULTS: A total of 17 vascular territories showed infarction. SWI hypointensity in sulcal and intramedullary veins was found in 77% and 94% of the infarcted territories, respectively, while the caliber of the sulcal and intramedullary veins was increased in 64% and 88% of the infarcted areas, respectively. SWI/DWI match was observed in 88% of the vascular territories, whereas mismatch was noted in two; follow-up neuroimaging showed infarct progression into the mismatch areas. CONCLUSION: Our study showed that, in children, high-quality SWI studies focused on venous drainage can provide important non-invasive data on critically perfused brain tissue at risk of infarct progression. SWI is therefore a valuable MR tool that can be added to the battery of neuroimaging techniques for acute PAIS.

Mucus removal is impaired in children with cystic fibrosis who have been infected by Pseudomonas aeruginosa.

OBJECTIVE: To determine if mucus removal is impaired in children with cystic fibrosis (CF) who have been recently infected with Pseudomonas aeruginosa. STUDY DESIGN: We compared mucociliary clearance (MCC), cough clearance (CC), lung morphology, and forced expiratory volume in 1 second (FEV1) in 7- to 14-year-old children with CF and mild lung disease (FEV1 ≥ 80%). Children were either P. aeruginosa negative (n = 8), or P. aeruginosa positive (P. aeruginosa obtained from at least 1 airway culture in the preceding 18 months) (n = 10). MCC and CC were quantified from gamma camera imaging of the right lung immediately after inhalation of (99m)technetium sulfur-colloid (time 0), over the next 60 minutes (average percent clearance over the first 60 minutes [AveMCC60]), 60-90 minutes (average percent clearance between 70 and 90 minutes [AveMCC/CC90]), and after 24 hours (percent clearance after 24 hours [MCC24hrs]). Children coughed 30 times between 60 and 90 minutes. Lung morphology was assessed by high resolution computed tomography (HRCT) scores of both lungs (total score) and of the right lung, using the Brody scale. Percent AveMCC60, AveMCC/CC90, MCC24hrs, FEV1, and HRCT scores were compared across the 2 groups using unpaired t tests. Associations were assessed using Spearman correlation. RESULTS: There were no differences between the 2 groups in AveMCC60, MCC24hrs, mean HRCT total scores, right lung HRCT scores, or mean FEV1. AveMCC/CC90 was significantly decreased in children with P. aeruginosa compared with those without (16.2% ± 11.0% vs 28.6% ± 7.8%, respectively; P = .016). There was a significant negative correlation of AveMCC60 and AveMCC/CC90 with total lung HRCT score (all P < .05) but not with FEV1. CONCLUSIONS: Infection with P. aeruginosa is associated with a significant slowing of MCC/CC in children with mild CF and may be a more sensitive indicator of the effects of P. aeruginosa than measurements of FEV1.

Acute ataxia in children: approach to clinical presentation and role of additional investigations.

Acute ataxia is a fairly common emergency that confronts the pediatric neurologist in daily life. The differential diagnosis of acute pediatric ataxia is wide, but informed history and careful clinical examination can narrow it and help target investigations. This review discusses various etiologies of acute pediatric ataxia, focusing on clinical presentation, diagnostic considerations, and approach to investigation. Aspects of treatment and prognosis are also mentioned. Diseases with potentially high morbidity and mortality, such as acute cerebellitis, opsoclonus-myoclonus syndrome, and cerebellar stroke, receive particular attention.

Macrocerebellum: significance and pathogenic considerations.

Macrocerebellum is a rare finding characterized by an abnormally large cerebellum. Only few patients with a syndromal or isolated macrocerebellum have been reported so far. This article aims to categorize the magnetic resonance imaging (MRI) findings, quantitate the macrocerebellum by volumetric analysis, characterize the neurological and dysmorphic features and cognitive outcome, and report the results of genetic analyses in children with macrocerebellum. All MR images were qualitatively evaluated for infratentorial and supratentorial abnormalities. Volumetric analysis was performed. Data about neurological and dysmorphic features, outcome, and genetic analysis were collected from clinical histories and follow-up examinations. Five patients were included. Volumetric analysis in three patients confirmed large cerebellar size compared to age-matched controls. MR evaluation showed that thickening of the cortical gray matter of the cerebellar hemispheres is responsible for the macrocerebellum. Additional infratentorial and supratentorial abnormalities were present in all patients. Muscular hypotonia, as well as impaired motor and cognitive development, was found in all patients, with ocular movement disorders in three of five patients. The five patients differed significantly in terms of dysmorphic features and involvement of extracerebral organs. Submicroscopic chromosomal aberrations were found in two patients. Macrocerebellum is caused by thickening of the cortical gray matter of the cerebellar hemispheres, suggesting that cerebellar granule cells may be involved in its development. Patients with macrocerebellum show highly heterogeneous neuroimaging, clinical, and genetic findings, suggesting that macrocerebellum is not a nosological entity, but instead represents the structural manifestation of a deeper, more basic biological disturbance common to heterogeneous disorders.

Neuro-orthopedic manifestations of the omphalocele exstrophy imperforate anus spinal defects complex.

PURPOSE: The omphalocele-exstrophy-imperforate anus-spinal defects complex is a severe multisystem congenital defect. To comprehensively care for these patients one must appreciate the neurological and orthopedic impact on the overall health of the child. MATERIALS AND METHODS: We retrospectively reviewed the medical records of 73 children with omphalocele-exstrophy-imperforate anus-spinal defects who were treated at our institution, identifying neurological and orthopedic anomalies, ambulatory ability and voiding status. RESULTS: No neurological data were available on 5 patients. Of the remaining 68 patients 9 had no spinal anomaly, 57 had spina bifida, 1 had hemivertebrae and 1 had coccygeal hypoplasia. We further classified the 47 spina bifida cases as spina bifida occulta in 6, meningocele/lipomeningocele in 12, myelomeningocele/lipomyelomeningocele in 24 and sacral agenesis in 6. Of the patients with spina bifida 35 had cord tethering. Commonly identified orthopedic anomalies were vertebral malformation in 59 patients, scoliosis in 25, clubfoot in 14 and limb length discrepancy in 8. Ambulatory status in 62 patients of walking age revealed that 37 ambulated fully, 15 ambulated with devices, 2 ambulated minimally with devices and 8 were wheelchair bound. Continence data were available on 61 closed cases. Of these patients 26 were incontinent, including 3 with conduit diversion, 1 with ureterostomy and 1 with vesicostomy. A total of 35 patients were socially continent, of whom 30 catheterized via a continent abdominal stoma and 5 voided/catheterized via the urethra. CONCLUSIONS: Early evaluation for neurosurgical and orthopedic anomalies is vital in these children. Despite the high incidence of spinal pathology most patients ambulate without assistance. Few children with omphalocele-exstrophy-imperforate anus-spinal defects achieve continence via the urethra. Vigilant followup is necessary to identify potentially correctable conditions.

History and current status of newborn screening for hemoglobinopathies.

The impact of hemoglobinopathies on healthcare in the United States, particularly sickle cell disease (SCD), has been significant. Enactment of the Sickle Cell Anemia Control Act in 1972 significantly increased the federal interest in the SCDs and other hemoglobinopathies. Only since May 1, 2006, have all states required and provided universal newborn screening for SCD despite a national recommendation to this effect in 1987. In this article, we review the history of screening for SCD and other hemoglobinopathies, along with federal and state activities that have contributed to improved health outcomes for patients with SCD, as well as current newborn screening practices. We also chronicle the federal activities that have helped to shape and to refine laboratory screening and diagnostic proficiency. Finally, we review molecular testing strategies that have evolved and outline their possible future impacts on disease detection and outcome improvement.

Hormonal contraception, sickle cell trait, and risk for venous thromboembolism among African American women.

OBJECTIVE: We evaluated the effect of oral and other hormonal contraceptive (HC) use on venous thromboembolism risk among African American women and investigated whether the association was modified by the sickle cell trait. STUDY DESIGN: We report the findings of a case-control study that included 60 African American women with an idiopathic, first episode of venous thromboembolism and 196 African American controls. RESULTS: The odds of current HC use compared with noncurrent use contrasting cases and controls is 3.8 (95% confidence interval [CI], 1.7-8.1; P < .001). Among subjects with sickle cell trait, the odds ratio is higher (odds ratio [OR], 6.7; 95% CI, 1.0-43) than the odds ratio among subjects without sickle cell trait (OR, 2.6; 95% CI, 1.1-6.2), but the difference is not statistically significant. CONCLUSION: This study provides persuasive evidence that hormonal contraceptive use increases venous thromboembolism risk among African American women and that the increase in risk may be larger among women with sickle cell trait.

Spontaneous resolution of diffuse persistent pulmonary interstitial emphysema.

Persistent pulmonary interstitial emphysema (PPIE) is a rare condition that occurs in both preterm and term infants. It is thought to arise from a disruption of the basement membrane of the alveolar wall allowing air entry into the interstitial space. The characteristic CT scan appearance of PPIE can be used to differentiate it from other congenital cystic lesions that may present similarly. Although conservative management is accepted as the initial form of management in most cases, a review of the published literature found that a significant proportion of localized PPIE cases eventually require surgical resection. This case illustrates that extensive bilateral PPIE associated with a persistent pneumomediastinum can resolve spontaneously thus demonstrating that conservative management without surgical intervention may be appropriate for some children.

Sickle cell trait and the risk of venous thromboembolism among blacks.

People with sickle cell disease have a chronically activated coagulation system and display hemostatic perturbations, but it is unknown whether they experience an increased risk of venous thromboembolism. We conducted a case-control study of venous thromboembolism that included 515 hospitalized black patients and 555 black controls obtained from medical clinics. All subjects were assayed for hemoglobin S and hemoglobin C genotypes. The prevalence of the S allele was 0.070 and 0.032 for case patients and controls, respectively (P < .001). The odds that a patient had sickle cell trait were approximately twice that of a control, indicating that the risk of venous thromboembolism is increased approximately 2-fold among blacks with sickle cell trait compared with those with the wild-type genotype (odds ratio = 1.8 with 95% confidence interval, 1.2-2.9). The odds ratio for pulmonary embolism and sickle cell trait was higher, 3.9 (2.2-6.9). The prevalence of sickle cell disease was also increased among case patients compared with controls. We conclude that sickle cell trait is a risk factor for venous thromboembolism and that the proportion of venous thromboembolism among blacks attributable to the mutation is approximately 7%.