Alan E Schlesinger

Mechanical factors associated with posterior rib fractures: laboratory and case studies.

Objective. The objective of this study was to explore the mechanical factors associated with posterior rib fractures. Materials and methods. Radiographs were reviewed in ten cadavers where rib fractures were produced by opening a median sternotomy with a sternal retractor. A second study used CT to evaluate for rib fractures following digital sternal depression and anteroposterior bimanual thoracic compression in three rabbits. Lastly, two cases of accidental posterior rib fractures in children were reviewed. Results. In the cadaver studies, ten rib fractures were noted, all at or medial to the costotransverse process articulations. In the rabbit study, 13 posterior rib fractures were noted, all occurring with excessive posterior levering of the ribs during bimanual compression. The accidental posterior rib fractures occurred with severe anteroposterior thoracic compression as children were decelerated into a car dashboard or struck by a car. Conclusion. Posterior rib fractures require excessive levering of the posterior ribs at the costotransverse process articulation. When these fractures occur in accidental situations, they require massive forces that entail similar mechanics to those occurring in abusive settings.

Radiographic Abnormalities in Rothmund-Thomson Syndrome and Genotype–Phenotype Correlation with RECQL4 Mutation Status

OBJECTIVE 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. SUBJECTS AND METHODS 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 Fishers exact test was performed to investigate whether there was a correlation between mutation status and skeletal abnormalities. RESULTS 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). CONCLUSION 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.

Correlation of ultrasound with postmortem neuropathologic studies in neonates

We examined the correlation between cranial sonogram and postmortem examination neurodiagnoses in 51 infants (30 boys and 21 girls) who underwent cranial sonogram before death. The mean gestation of the infants at birth was 32 weeks 6 days; the mean birth weight, 1,992 gm; and the mean survival, 27 days. Most infants had several postmortem examination neurodiagnoses; therefore the postmortem examination diagnosis considered to be most significant in terms of clinical management and long-term neurologic function was chosen for each infant and designated as the primary diagnosis. The ability of the cranial sonogram to diagnose the primary diagnosis was then evaluated. The accuracy of the cranial sonogram in defining primary diagnoses was 59%. There were 21 cases (41%) in which cranial sonogram failed to define the primary diagnosis; nine of these could be explained on the basis of the timing of the ultrasound in relation to the age of the lesion or to the microscopic nature of the lesion. In 12 patients the factors causing the failure of cranial sonogram to define primary postmortem examination diagnoses could not be identified. The positive predictive value of a cranial sonogram diagnosis was 77%; the negative predictive value was 19%.

Novel EED mutation in patient with Weaver syndrome

Weaver syndrome is a rare condition characterized by overgrowth, macrocephaly, accelerated osseous maturation, variable intellectual disability, and characteristic facial features. Pathogenic variants in EZH2, a histone methyltransferase, have previously been identified as a cause of Weaver syndrome. However, the underlying molecular cause in many patients remains unknown. We report a patient with a clinical diagnosis of Weaver syndrome whose exome was initially non‐diagnostic. Reports in the medical literature of EED associated overgrowth prompted re‐analysis of the patients original exome data. The patient was found to have a likely pathogenic variant in EED. These findings support that Weaver syndrome is a disorder with locus heterogeneity and can be due to pathogenic variants in either EZH2 or EED. This case highlights the utility of exome sequencing as a clinical diagnostic tool for novel gene discovery as well as the importance of re‐examination of exome data as new information about gene‐disease associations becomes available.

Pulmonary Tuberculosis: Role of Radiology in Diagnosis and Management.

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.

The hand in Smith–Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis

Abstract Background. Brachydactyly has been described on physical examination in patients with Smith–Magenis syndrome (SMS). Metacarpophalangeal pattern profile analysis (MCPPPA), a method of graphic depiction of the relative size of the bones of the hand, has been used to objectively evaluate radiographs of the hand in patients with SMS in two small series: a single case and a study of four patients. This technique has confirmed brachydactyly and has suggested conflicting MCPPPA results. Objective. The purpose of our study was to evaluate the hand by MCPPPA in a large series of patients with SMS. Patients and methods. We measured the bones of the hand and performed MCPPPA in 29 confirmed cases of SMS. Results. Our results in 29 patients demonstrated a different MCPPPA in patients with SMS than previously reported. The analysis confirmed brachydactyly and the previously described trend of more pronounced shortening of the distal bones relative to the more proximal bones, but also demonstrated a previously undescribed pattern: relative enlargement of the proximal phalanx of the thumb and middle phalanx of the fifth finger. However, statistical analysis suggested that the pattern was not highly characteristic. Conclusion. MCPPPA of 29 patients with SMS demonstrates a pattern different than previously reported, but not highly characteristic.

Sagittal Orientation of Ingested Coins in the Esophagus in Children

OBJECTIVE 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. MATERIALS AND METHODS 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. RESULTS 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. CONCLUSION 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.

Imaging features of intravesical urachal cysts in children

BackgroundUrachal cysts, part of the spectrum of congenital urachal anomalies, are typically extrinsic to the urinary bladder.ObjectiveThe 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 methodsFive 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.ResultsIn 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.ConclusionThe 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.

Hyperechoic foci in the thalamic region imaged via the posterior fontanelle : a potential mimic of thalamic pathology

Background. We have incidentally noted foci of increased thalamic echogenicity (FITE) on cranial sonographic images obtained via the posterior fontanelle (PF) that were not confirmed on images obtained while scanning through the anterior fontanelle (AF). Therefore, we postulated that this is a normal variant of PF imaging rather than true thalamic pathology. Objective. The purpose of this study was to determine the incidence of FITE detected on posterior and anterior fontanelle images. Materials and methods. Parasagittal images were obtained bilaterally through the trigone of the lateral ventricles (including the thalami) via both the anterior and posterior fontanelles in 15 consecutive neonates (30 thalami) and evaluated independently by two pediatric radiologists for the presence or absence of FITE. Thalami were graded as grade 0 (no FITE), grade 1 (possible FITE), or grade 2 (definite FITE). Follow-up CT (n = 3) and MR (n = 1) were reviewed. Results. FITE were absent in 87 % of thalami imaged via the AF, and possible FITE were present in 13 % of these cases. No cases of definite FITE were identified via the AF. However, possible FITE were identified in 33–40 % of thalami and definite FITE were seen in 33 % of thalami imaged via the PF. Conclusions. FITE seen only on images obtained through the PF on cranial sonography are a normal finding and should not be attributed to thalamic hemorrhage or ischemia.

Simple renal cysts in children with AIDS

Abstract Simple renal cysts are very uncommon among children. Of 50 children with AIDS that underwent computed tomography at our hospital, 4 had radiographically simple cysts. The incidence of simple renal cysts in this group of children is thus approximately 45 times that seen in normal children. To our knowledge, simple renal cysts have never been reported as a manifestation of AIDS in children. It is unknown whether or not these cysts are a manifestation of HIV nephropathy (HIVN), in which microcysts are seen pathologically. We suggest that simple renal cysts may be a finding compatible with the diagnosis of HIVN.