RESUMO
Morquio syndrome, also known as Morquio-Brailsford syndrome or mucopolysaccharidosis type IV (MPS IV), is a subgroup of mucopolysaccharidosis. It is an autosomal recessive lysosomal storage disorder. Two subtypes of Morquio syndrome have been identified. In MPS IVA, a deficiency in N-acetylgalactosamine-6-sulfate sulfatase interrupts the normal metabolic pathway of degrading glycosaminoglycans. Accumulated undigested glycosaminoglycans in the tissue and bones result in complications leading to severe skeletal deformity. In MPS IVB, a deficiency in beta-galactosidase results in a milder phenotype than in MPS IVA. Morquio syndrome presents a variety of clinical manifestations in a spectrum of mild to severe. It classically has been considered a skeletal dysplasia with significant skeletal involvement. However, the extraskeletal features can also provide valuable information to guide further work-up to assess the possibility of the disorder. Although the disease involves almost all parts of the body, it most commonly affects the axial skeleton, specifically the vertebrae. The characteristic radiologic findings in MPS IV, such as paddle-shaped ribs, odontoid hypoplasia, vertebral deformity, metaphyseal and epiphyseal bone dysplasia, and steep acetabula, are encompassed in the term "dysostosis multiplex," which is a common feature among other types of MPS and storage disorders. Myelopathy due to spinal cord compression and respiratory airway obstruction are the most critical complications related to mortality and morbidity. The variety of clinical features, as well as overlapping of radiological findings with other disorders, make diagnosis challenging, and delays in diagnosis and treatment may lead to critical complications. Timely imaging and radiologic expertise are important components for diagnosis. Gene therapies may provide robust treatment, particularly if genetic variations can be screened in utero.
Assuntos
Mucopolissacaridose IV , Osteocondrodisplasias , Humanos , Mucopolissacaridose IV/diagnóstico por imagem , Mucopolissacaridose IV/tratamento farmacológico , Glicosaminoglicanos/metabolismo , Glicosaminoglicanos/uso terapêutico , Coluna Vertebral , Osso e OssosRESUMO
Pulmonary cysts and neoplasms, especially congenital or occurring at a young age, should be thoroughly investigated. Evaluation for DICER1 mutations should be performed if there is a family history of this syndrome, the lung cyst/neoplasm is a pleuropulmonary blastoma, or other clinical manifestations of this syndrome are present or develop.
RESUMO
BACKGROUND: Gadoteric acid is a paramagnetic gadolinium macrocyclic contrast agent approved for use in MRI of cerebral and spinal lesions and for body imaging. OBJECTIVE: To investigate the safety and efficacy of gadoteric acid in children by extensively reviewing clinical and post-marketing observational studies. MATERIALS AND METHODS: Data were collected from 3,810 children (ages 3 days to 17 years) investigated in seven clinical trials of central nervous system (CNS) imaging (n = 141) and six post-marketing observational studies of CNS, musculoskeletal and whole-body MR imaging (n = 3,669). Of these, 3,569 children were 2-17 years of age and 241 were younger than 2 years. Gadoteric acid was generally administered at a dose of 0.1 mmol/kg. We evaluated image quality, lesion detection and border delineation, and the safety of gadoteric acid. We also reviewed post-marketing pharmacovigilance experience. RESULTS: Consistent with findings in adults, gadoteric acid was effective in children for improving image quality compared with T1-W unenhanced sequences, providing diagnostic improvement, and often influencing the therapeutic approach, resulting in treatment modifications. In studies assessing neurological tumors, gadoteric acid improved border delineation, internal morphology and contrast enhancement compared to unenhanced MR imaging. Gadoteric acid has a well-established safety profile. Among all studies, a total of 10 children experienced 20 adverse events, 7 of which were thought to be related to gadoteric acid. No serious adverse events were reported in any study. Post-marketing pharmacovigilance experience did not find any specific safety concern. CONCLUSION: Gadoteric acid was associated with improved lesion detection and delineation and is an effective and well-tolerated contrast agent for use in children.
Assuntos
Meios de Contraste/efeitos adversos , Compostos Heterocíclicos/efeitos adversos , Aumento da Imagem/métodos , Imageamento por Ressonância Magnética , Marketing , Compostos Organometálicos/efeitos adversos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Observacionais como Assunto , Reprodutibilidade dos TestesRESUMO
BACKGROUND: Juxtacortical chondroma is a rare benign bone lesion in children. Children usually present with a mildly painful mass, which prompts diagnostic imaging studies. The rarity of this condition often presents a diagnostic challenge. Correct diagnosis is crucial in guiding surgical management. OBJECTIVE: To describe the characteristic imaging findings of juxtacortical chondroma in children. MATERIALS AND METHODS: We identified all children who were diagnosed with juxtacortical chondroma between 1998 and 2012. A single experienced pediatric radiologist reviewed all diagnostic imaging studies, including plain radiographs, CT, MR and bone scans. RESULTS: Seven children (5 boys and 2 girls) with juxtacortical chondroma were identified, ranging in age from 6 years to 16 years (mean 12.3 years). Mild pain and a palpable mass were present in all seven children. Plain radiographs were available in 6/7, MR in 7/7, CT in 4/7 and skeletal scintigraphy in 5/7 children. Three lesions were located in the proximal humerus, with one each in the distal radius, distal femur, proximal tibia and scapula. Radiographic and CT features deemed highly suggestive of juxtacortical chondroma included cortical scalloping, underlying cortical sclerosis and overhanging margins. MRI features consistent with juxtacortical chondroma included isointensity to skeletal muscle on T1, marked hyperintensity on T2 and peripheral rim enhancement after contrast agent administration. One of seven lesions demonstrated intramedullary extension, and 2/7 showed adjacent soft-tissue edema. CONCLUSION: Juxtacortical chondroma is an uncommon benign lesion in children with characteristic features on plain radiographs, CT and MR. Recognition of these features is invaluable in guiding appropriate surgical management.
Assuntos
Neoplasias Ósseas/diagnóstico , Condroma/diagnóstico , Imageamento por Ressonância Magnética/métodos , Osteossarcoma Justacortical/diagnóstico , Tomografia Computadorizada por Raios X/métodos , Adolescente , Criança , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
Radiologic evaluation of musculoskeletal abnormalities in children is now usually performed by ultrasound and magnetic resonance imaging, owing to their excellent anatomic detail and lack of ionizing radiation. There remains a group of certain congenital and acquired conditions in which computed tomography (CT) can deliver invaluable information, and thus its application is justified in some pediatric patients. This article provides an overview of the most current imaging techniques for the latest generation of CTs, with particular emphasis on dose reduction. We also discuss the most important pathologic entities in which CT significantly contributes to the diagnostic workup or post-therapy follow-up.
Assuntos
Artrografia/tendências , Osso e Ossos/diagnóstico por imagem , Doenças Musculoesqueléticas/diagnóstico por imagem , Lesões por Radiação/prevenção & controle , Proteção Radiológica/métodos , Tomografia Computadorizada por Raios X/tendências , Artrografia/efeitos adversos , Criança , Humanos , Lesões por Radiação/etiologia , Tomografia Computadorizada por Raios X/efeitos adversosRESUMO
PURPOSE: In evaluating the impact of surgical repair of pectus excavatum, the Haller index developed for preoperative decision-making purposes may be inadequate to quantify postoperative changes in shape of the chest. Individual patients may also have chest characteristics that impact the success of repair, many of which would be unlikely to be measured by the Haller index alone. We have developed a protocol that measures the cross-sectional chest area and the asymmetry index along with the Haller index to more completely quantify the nature of the deformity. The purpose of this study was to determine the reliability of this protocol in the interpretation of chest computed tomography images from multiple sites. The protocol was developed as part of a multicenter study of clinical outcomes after surgical repair of pectus excavatum. METHODS: Two radiologists independently selected 5 images from each of 32 computed tomography scans from multicenter study participants according to the protocol. A digitizer was used to measure the diameters and cross-sectional areas of the images selected; these results were used to calculate the Haller and asymmetry indices. The protocol was tested for intradigitizer and interradiologist reliability. Using the Haller and asymmetry indices, we also assessed agreement between radiologists classifying patients as abnormal. RESULTS: Agreement was uniformly high for all comparisons (all Lin's concordance coefficients >0.99 and all Cohen's kappa's >0.85, all agreement on classification of patients >95%) indicating almost perfect agreement. Disagreement on classification of patients using the Haller and asymmetry index was at the cut points for abnormality. CONCLUSION: The protocol was found to be a highly reliable method for deriving the cross-sectional area of the chest and the Haller and asymmetry indices and for classifying patients for surgical eligibility. Borderline cases should be examined carefully to determine the appropriateness of surgical intervention. Cross-sectional area can be measured reliably using this protocol and thus may be useful in quantifying the success of surgical intervention.
Assuntos
Tórax em Funil/diagnóstico por imagem , Tórax em Funil/cirurgia , Adolescente , Adulto , Anatomia Transversal , Pesos e Medidas Corporais , Criança , Feminino , Humanos , Masculino , Variações Dependentes do Observador , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Tórax/anatomia & histologia , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
OBJECTIVE: To assess young male athletes' understanding of the need for a genital examination during the sports physical, their knowledge of signs and symptoms of serious testicular pathology, and the type of genital protection they wear for specific sports. Additionally, to identify common sport-specific genital injuries requiring emergency department treatment. DESIGN: Descriptive survey. SETTING: Station-based mass screening preparticipation physical exams performed in northeastern Ohio. PARTICIPANTS: A total of 755 male athletes at the junior high school, high school, and collegiate levels (age 12-25 years). MAIN OUTCOME MEASUREMENTS: Participants' answers to a 5-question survey. Male genital injury occurring in common contact and collision sports identified from the National Electronic Injury Surveillance System. RESULTS: Fifty percent did not understand why the genital examination is done. Forty-seven percent did not wear genital protection during sports. Most were unaware of the risk of testicular cancer and did not appreciate the difference in urgency of seeking medical treatment of painless versus painful testicular swelling. Approximately 20% of emergency department visits for sports-related genital trauma had a risk of permanent injury, and up to 7% resulted in hospitalization or transfer. CONCLUSIONS: Young male athletes are unaware of testicular pathology that affects their age group, and many do not wear genital protection during sports. Better education of young males regarding genital health and protection is necessary.
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Traumatismos em Atletas/psicologia , Genitália Masculina/lesões , Conhecimentos, Atitudes e Prática em Saúde , Exame Físico/psicologia , Adolescente , Adulto , Traumatismos em Atletas/terapia , Conscientização , Criança , Emergências , Educação em Saúde , Humanos , Masculino , Aceitação pelo Paciente de Cuidados de Saúde , Roupa de Proteção/estatística & dados numéricos , Torção do Cordão Espermático , Neoplasias Testiculares/psicologia , Testículo/lesõesRESUMO
Fast spin-echo short inversion time inversion-recovery (STIR) whole-body magnetic resonance (MR) imaging is an evolving technique that allows imaging of the entire body in a reasonable time. Its wide availability and lack of radiation exposure makes this method appealing for the evaluation of children. Since 2001, the authors conducted 140 pediatric whole-body MR imaging studies and correlated the findings with those from conventional imaging examinations. Bone marrow lesions, including marrow infiltration from lymphoma, metastases, and tumor-related edema, appeared with high signal intensity and were more easily detected on STIR images than with scintigraphy. Focal parenchymal lesions could be distinguished by their slightly different signal intensity, but pathologic lymph nodes could not be differentiated from normal nodes on the basis of signal intensity. The STIR technique is highly sensitive for detection of pathologic lesions, but it is not specific for malignancy; thus, the method cannot be used to differentiate benign conditions from malignant neoplastic lesions. Although fast STIR whole-body MR imaging permits evaluation of the entire skeleton and all viscera with a single examination, more experience and data are needed to determine its efficacy for staging neoplasms and assessing other multifocal disease in children.
Assuntos
Imageamento por Ressonância Magnética/métodos , Neoplasias/patologia , Tecido Adiposo/patologia , Adolescente , Medula Óssea/patologia , Osso e Ossos/patologia , Encéfalo/patologia , Criança , Pré-Escolar , Diagnóstico por Imagem/métodos , Feminino , Histiocitose de Células de Langerhans/patologia , Humanos , Lactente , Recém-Nascido , Tecido Linfoide/patologia , Masculino , Metástase Neoplásica/patologia , Neoplasias/diagnóstico , Especificidade de Órgãos , Vísceras/patologiaRESUMO
About one-half of patients with meconium ileus (MI) present with a complication such as volvulus, atresia, meconium peritonitis or giant cystic meconium peritonitis. The treatment of these complications requires surgery. However, the preoperative diagnosis of complicated MI is difficult. We describe two neonates with complicated small-bowel obstruction, one with MI related to cystic fibrosis and the other not related to cystic fibrosis. In both, contrast enema depicted a spiral appearance of the distal small bowel, which at surgery proved to be the result of volvulus associated with antenatal bowel perforation. This appearance of the small bowel on contrast enema in this clinical setting has not been previously described. The recognition of this spiral appearance of the distal small bowel suggests the need for surgery.
Assuntos
Meios de Contraste , Enema , Doenças do Recém-Nascido/diagnóstico , Obstrução Intestinal/diagnóstico , Obstrução Intestinal/etiologia , Volvo Intestinal/diagnóstico , Intestino Delgado/anormalidades , Fibrose Cística/complicações , Fibrose Cística/diagnóstico , Feminino , Humanos , Íleus/complicações , Íleus/diagnóstico , Recém-Nascido , Perfuração Intestinal/diagnóstico , Perfuração Intestinal/etiologia , Volvo Intestinal/complicações , Mecônio/diagnóstico por imagem , Radiografia Abdominal , Ultrassonografia de IntervençãoRESUMO
Our objective was to compare fast spin-echo (FSE) short inversion time inversion recovery (STIR) whole-body MR imaging with standard procedures in staging children with lymphoma. Eight children (age range, 2-16 years) underwent multi-station FSE STIR whole-body MR at initial staging (n=5) or for restaging following completion of therapy (n=5). Whole-body MR and conventional staging procedures, including CT (n=10), gallium-67 scintigraphy (n=9), bone scintigraphy (n=3) and bone marrow biopsy (n=7) were retrospectively compared for detection of sites involved by lymphoma and for the assigned stage. FSE STIR whole-body MR detected more sites of possible lymphomatous involvement at initial staging (87/88) and at restaging (5/5) than did conventional imaging (74/88, 3/5). MR was more sensitive than conventional imaging in detecting bone marrow involvement at initial staging. Following treatment, however, residual and therapy-induced bone marrow signal abnormalities could not be differentiated from lymphomatous involvement. Detection of nodal and visceral involvement correlated well. Our results suggest that FSE STIR whole-body MR imaging is a sensitive technique for evaluating lymphomatous involvement of bone marrow as well as non-marrow sites. Larger prospective trials are needed to determine if FSE STIR whole-body MR can replace standard radiographic procedures for initial staging and contribute in the follow-up of lymphoma in children.
Assuntos
Processamento de Imagem Assistida por Computador/métodos , Linfoma/patologia , Imageamento por Ressonância Magnética/métodos , Adolescente , Biópsia , Medula Óssea/patologia , Osso e Ossos/diagnóstico por imagem , Linfoma de Burkitt/patologia , Criança , Pré-Escolar , Feminino , Seguimentos , Radioisótopos de Gálio , Doença de Hodgkin/patologia , Humanos , Linfonodos/patologia , Linfoma de Células B/patologia , Linfoma Difuso de Grandes Células B/patologia , Masculino , Estadiamento de Neoplasias , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Cintilografia , Compostos Radiofarmacêuticos , Estudos Retrospectivos , Tomografia Computadorizada por Raios XRESUMO
Prostaglandin E1 (PGE1) administration for palliation of cyanotic congenital heart disease in neonates has been associated with radiographically visible necrosis of brown fat about the neck and shoulder girdles. However, the natural history of this process has not been described. We present two patients with cyanotic congenital heart disease, treated preoperatively with prostaglandin E2 (PGE2), both of whom developed dramatic calcific brown fat necrosis. This process slowly resolved over time in both patients.
Assuntos
Tecido Adiposo Marrom , Calcinose/induzido quimicamente , Dinoprostona/efeitos adversos , Cardiopatias Congênitas/tratamento farmacológico , Tecido Adiposo Marrom/diagnóstico por imagem , Calcinose/diagnóstico por imagem , Dinoprostona/uso terapêutico , Feminino , Humanos , Recém-Nascido , Radiografia , Remissão EspontâneaRESUMO
BACKGROUND: Punctate or stippled cartilaginous calcifications are associated with many conditions, including chromosomal, infectious, endocrine, and teratogenic etiologies. Some of these conditions are clinically mild, while others are lethal. Accurate diagnosis can prove instrumental in clinical management and in genetic counseling. OBJECTIVE: To describe the diagnostic radiographic features seen in Pacman dysplasia, a distinct autosomal recessive, lethal skeletal dysplasia. MATERIALS AND METHODS: We present the fourth reported case of Pacman dysplasia and compare the findings seen in our patient with the three previously described patients. RESULTS: Invariable and variable radiographic findings were seen in all four cases of histologically proven Pacman dysplasia. CONCLUSION: Pacman dysplasia presents both constant and variable diagnostic radiographic features.
Assuntos
Osso e Ossos/diagnóstico por imagem , Condrodisplasia Punctata/congênito , Condrodisplasia Punctata/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Masculino , RadiografiaRESUMO
Keutel syndrome (KS) is a rare, autosomal recessive condition characterized by diffuse cartilaginous calcification, nasal hypoplasia, brachytelephalangy, and peripheral pulmonary stenosis. A review of the literature produced only 15 reported patients, of whom plain radiographs of the hand or a detailed report are available for review in ten. A distinctive pattern of broadening and shortening of the first through fourth distal phalanges, with sparing of the fifth distal phalanx, is seen in seven of these patients. Two additional patients with Keutel syndrome and this identical finding are presented. I suggest that this pattern of brachytelephalangy is sensitive and highly suggestive of the diagnosis of Keutel syndrome.