Tuberculosis is a public health problem worldwide, including in the United States-particularly among immunocompromised patients and other high-risk groups. Tuberculosis manifests in active and latent ...forms. Active disease can occur as primary tuberculosis, developing shortly after infection, or postprimary tuberculosis, developing after a long period of latent infection. Primary tuberculosis occurs most commonly in children and immunocompromised patients, who present with lymphadenopathy, pulmonary consolidation, and pleural effusion. Postprimary tuberculosis may manifest with cavities, consolidations, and centrilobular nodules. Miliary tuberculosis refers to hematogenously disseminated disease that is more commonly seen in immunocompromised patients, who present with miliary lung nodules and multiorgan involvement. The principal means of testing for active tuberculosis is sputum analysis, including smear, culture, and nucleic acid amplification testing. Imaging findings, particularly the presence of cavitation, can affect treatment decisions, such as the duration of therapy. Latent tuberculosis is an asymptomatic infection that can lead to postprimary tuberculosis in the future. Patients who are suspected of having latent tuberculosis may undergo targeted testing with a tuberculin skin test or interferon-γ release assay. Chest radiographs are used to stratify for risk and to assess for asymptomatic active disease. Sequelae of previous tuberculosis that is now inactive manifest characteristically as fibronodular opacities in the apical and upper lung zones. Stability of radiographic findings for 6 months distinguishes inactive from active disease. Nontuberculous mycobacterial disease can sometimes mimic the findings of active tuberculosis, and laboratory confirmation is required to make the distinction. Familiarity with the imaging, clinical, and laboratory features of tuberculosis is important for diagnosis and management.
RSNA, 2017.
Novel EED mutation in patient with Weaver syndrome Cooney, Erin; Bi, Weimin; Schlesinger, Alan E. ...
American journal of medical genetics. Part A,
February 2017, 2017-Feb, 2017-02-00, 20170201, Volume:
173, Issue:
2
Journal Article
Previously we reported the identification of a homozygous COL27A1 (c.2089G>C; p.Gly697Arg) missense variant and proposed it as a founder allele in Puerto Rico segregating with Steel syndrome (STLS, ...MIM #615155); a rare osteochondrodysplasia characterized by short stature, congenital bilateral hip dysplasia, carpal coalitions, and scoliosis. We now report segregation of this variant in five probands from the initial clinical report defining the syndrome and an additional family of Puerto Rican descent with multiple affected adult individuals. We modeled the orthologous variant in murine Col27a1 and found it recapitulates some of the major Steel syndrome associated skeletal features including reduced body length, scoliosis, and a more rounded skull shape. Characterization of the in vivo murine model shows abnormal collagen deposition in the extracellular matrix and disorganization of the proliferative zone of the growth plate. We report additional COL27A1 pathogenic variant alleles identified in unrelated consanguineous Turkish kindreds suggesting Clan Genomics and identity-by-descent homozygosity contributing to disease in this population. The hypothesis that carrier states for this autosomal recessive osteochondrodysplasia may contribute to common complex traits is further explored in a large clinical population cohort. Our findings augment our understanding of COL27A1 biology and its role in skeletal development; and expand the functional allelic architecture in this gene underlying both rare and common disease phenotypes.
The classic teaching has been that coins in the esophagus are oriented in the coronal plane projecting en face on frontal radiographs and tangentially on lateral views, whereas coins in the trachea ...are oriented sagittally and appear tangential on frontal radiographs and en face on lateral radiographs. We evaluated the clinical presentation and radiographic appearance in eight cases of esophageal coins in children with an atypical sagittal orientation on chest radiographs.
The clinical records and chest radiographs of eight children with sagittally oriented esophageal coins were retrospectively reviewed. Patient age, sex, type of coin, location of the coin within the esophagus, method of coin removal, presence of underlying esophageal anomalies, treatment, and complications related to the coin ingestion or removal were recorded.
The age of the eight children ranged from 3.8 to 17.7 years (mean, 7.8 years). The coins were lodged at the level of the aortic arch in seven of the eight patients and at the level of the distal third of the esophagus in one patient. In one of the eight cases, the coin was originally in the sagittal plane but spontaneously reoriented into the coronal plane.
Our case series reveals that the classic teaching that coins with a sagittal orientation on chest radiographs are in the trachea is usually not correct. A coin seen with a sagittal orientation on a chest radiograph will likely be within the esophagus.
The purpose of this study was to summarize the radiographic skeletal findings in patients with Rothmund-Thomson syndrome (RTS) and to determine whether there is an association between the presence of ...skeletal abnormalities and the mutational status of the RECQL4 gene.
Twenty-eight subjects with RTS underwent skeletal surveys and RECQL4 DNA mutation testing. Radiographs were reviewed by two radiologists. RECQL4 mutation testing by DNA sequencing of the gene was performed by a diagnostic laboratory. Genotype-phenotype analysis by Fisher's exact test was performed to investigate whether there was a correlation between mutation status and skeletal abnormalities.
Twenty-one (75%) of the subjects had at least one significant skeletal abnormality, the more common being abnormal metaphyseal trabeculation, brachymesophalangy, thumb aplasia or hypoplasia, osteopenia, dislocation of the radial head, radial aplasia or hypoplasia, and patellar ossification defects. Three subjects had a history of destructive bone lesion (osteosarcoma). Genotype-phenotype analysis showed a significant correlation between RECQL4 mutational status and the presence of skeletal abnormalities (p < 0.0001).
Skeletal abnormalities are frequent in persons with RTS. Many of these abnormalities are not clinically apparent but are detectable on radiographs. The presence of skeletal abnormalities correlates with RECQL4 mutation status, which has been found to correlate with risk of osteosarcoma. Skeletal surveys aid in both diagnosis and management of RTS.
Background
Urachal cysts, part of the spectrum of congenital urachal anomalies, are typically extrinsic to the urinary bladder.
Objective
The purpose of this study is to present the salient imaging ...features of a pediatric series of unusual intravesical urachal cysts that protrude into the bladder lumen.
Materials and methods
Five children with intravesical urachal cysts depicted on imaging studies were retrospectively identified during a 6-year period at a children’s hospital. The clinical charts and findings on ultrasound (US) and voiding cystourethrogram (VCUG) were reviewed.
Results
In all five children, US revealed a thin-walled ovoid cystic structure containing anechoic fluid or echogenic debris and residing along the midline of the anterosuperior aspect of the urinary bladder protruding into the bladder lumen. Histological examination of the partial cystectomy specimen from one child revealed a cystic urachal remnant with intestinal mucosal lining and reactive lymphoid hyperplasia. The cysts in the four other children were managed conservatively without operative intervention.
Conclusion
The purpose of this report is to expand the spectrum of urachal remnant anomalies to include these newly recognized intravesical urachal cysts, which are characterized on US by the presence of a thin-walled cyst along the midline anterosuperior aspect of the urinary bladder.
Lysinuric protein intolerance (LPI) is a rare autosomal recessive inborn error of metabolism caused by mutations in
, which encodes a component of the dibasic amino acid transporter found in ...intestinal and renal tubular cells. Patients typically present with vomiting, diarrhea, irritability, failure to thrive, and symptomatic hyperammonemia after protein-rich meals. Long-term complications may include pulmonary alveolar proteinosis, renal disease, and osteoporosis. We present a 5-year-old male who was followed in our skeletal dysplasia clinic for 3 years for multiple fractures, idiopathic osteoporosis, and short stature in the absence of typical features of LPI. Whole exome sequencing performed to determine the etiology of the osteoporosis and speech delay identified a nonsense mutation in
. Chromosome microarray analysis identified a deletion involving the second allele of the same gene, and biochemical analysis supported the diagnosis of LPI. Our patient's atypical presentation underscores the importance of maintaining a high index of suspicion for LPI in patients with unexplained fractures and idiopathic osteoporosis, even in the absence of clinical symptoms of hyperammonemia after protein rich meals or other systemic features of classical LPI. This case further demonstrates the utility of whole exome sequencing in diagnosis of unusual presentations of rare disorders for which early intervention may modify the clinical course.
We present 10 patients with double aortic arch with atresia of the distal left arch segment, a form of incomplete double aortic arch, and describe the distinct MRI and CT findings for this ...potentially symptomatic vascular ring.
Knowledge of the distinctive imaging appearance of this congenital arch anomaly can direct the radiologist to the correct preoperative diagnosis.
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