Unusual Radiological Features Research Articles

Bone alterations of pamidronate therapy in children with cerebral palsy complicating orthopedic management.

Cerebral palsy (CP) is a heterogeneous group of disorders with different clinical types and underlying genetic variants. Children with CP are at risk for fragility fractures secondary to low bone mineral density, and although bisphosphonates are prescribed for the treatment of children with bone fragility, there is limited information on long-term bone impact and safety. Children with CP usually present overtubulated bones, and the thickening of cortical bone by pamidronate treatment can potentially further narrow the medullary canal. Our purpose was to report bone alterations attributable to pamidronate therapy that impact orthopedic care in children with CP. The study consisted of 41 children with CP treated with pamidronate for low bone mineral density from 2006 to 2020. Six children presented unique bone deformities and unusual radiologic features attributed to pamidronate treatment, which affected their orthopedic care. The cases included narrowing of the medullary canal and sclerotic bone, atypical femoral fracture, and heterotopic ossification. Treatment with bisphosphonate reduced the number of fractures from 101 in the pretreatment period to seven in the post-treatment period ( P < 0.001). In conclusion, children with CP treated with bisphosphonate have a reduction in low-energy fractures; however, some fractures still happen, and pamidronate treatment can lead to bone alterations including medullary canal narrowing with sclerotic bone and atypical femoral fractures. In very young children, failure to remodel may lead to thin, large femoral shafts with cystic medullary canals. More widespread use of bisphosphonates in children with CP may make these bone alterations more frequent. Level of evidence: Level IV: Case series with post-test outcomes.

Absence of Oligoclonal Bands in Multiple Sclerosis: A Call for Differential Diagnosis.

Immunoglobulin gamma (IgG) oligoclonal bands (OCB) in the cerebrospinal fluid (CSF) are absent in a small group of multiple sclerosis (MS) patients. According to previous research, OCB-negative MS patients differ genetically but not clinically from OCB-positive MS patients. However, whether OCB-negative MS is a unique immunological and clinical entity remains unclear. The absence of OCB poses a significant challenge in diagnosing MS. (1) Objective: The objective of this study was twofold: (1) to determine the prevalence of OCB-negative MS patients in the Uppsala region, and (2) to assess the frequency of misdiagnosis in this patient group. (2) Methods: We conducted a retrospective study using data from the Swedish MS registry (SMSreg) covering 83% of prevalent MS cases up to 20 June 2020 to identify all MS patients in the Uppsala region. Subsequently, we collected relevant information from the medical records of all OCB-negative MS cases, including age of onset, gender, presenting symptoms, MRI features, phenotype, Expanded Disability Status Scale (EDSS) scores, and disease-modifying therapies (DMTs). (3) Results: Out of 759 MS patients identified, 69 had an OCB-negative MS diagnosis. Upon re-evaluation, 46 patients had a typical history and MRI findings of MS, while 23 had unusual clinical and/or radiologic features. An alternative diagnosis was established for the latter group, confirming the incorrectness of the initial MS diagnosis. The average EDSS score was 2.0 points higher in the MS group than in the non-MS group (p = 0.001). The overall misdiagnosis rate in the cohort was 33%, with 22% of misdiagnosed patients having received DMTs. (4) Conclusions: Our results confirm that the absence of OCB in the CSF should raise suspicion of possible misdiagnosis in MS patients and prompt a diagnostic reassessment.

The radiological characteristics of childhood intussusception including unusual features and rare pathological lead points

PurposeTo describe the radiological characteristics for childhood intussusceptions including unusual radiological features and rare pathological lead points (PLP). Material and methodsThe medical records of all childhood intussusceptions between 1/1/2010 -1/10/2020 were retrospectively reviewed. 95 cases were identified in 82 patients. The demographic data, presenting symptoms, diagnostic and treatment methods, radiological features, and PLPs among the different types of intussusception were analyzed. ResultsIleocolic intussusception (ICI) represented 53.7% (51/95). The average age for ICI was 1.87 years. Males constituted 72.1% (31/43). 29.4% (15/51) were treated primarily surgically due to peritonitis. Small bowel intussusception (SBI) represented 40% (38/95) in which females constituted 51.5% (17/33). Ileo-ileal represented 63.2% (24/38). 81.8% (27/33) were transient. On ultrasound; There was a statistically significant difference in the size of the outer diameter of ICI compared to SBI (P-value 0.00012). Ileo-ileocolic and colo-colic intussusceptions constituted 3.2% (3/95); each and were more common in females. Vomiting was the most common symptom for intussusception and ultrasound was diagnostic in the majority of cases. PLPs were seen in 36.6% (30/82) of the patients of which the average age was 7 years. PLPs/risk factors were benign in 80% (24/30). A case of colo-colic intussusception was seen in a 16-year-old female due to clear cell sarcoma which was not reported before. 12.2% patients (10/82) had recurrent intussusception. ConclusionOur study showed that ICI is the most commonly encountered type. SBIs are mostly transient. It is important to radiologically determine the type of intussusception and to identify PLPs or unusual radiological features to avoid unnecessary intervention and significant patient morbidity.

Pulmonary carcinoid presenting in pregnancy with an unusual radiological feature.

Pulmonary carcinoid tumours are a rare form of malignancy that often present with clinical heterogeneity and are challenging to diagnose. Diagnosis during pregnancy is further complicated by delays in imaging and procedures to minimise harm to the fetus. This case describes a primigravid healthcare worker who was diagnosed with pulmonary carcinoid in her first trimester of pregnancy, with particular focus on the unique radiological findings of subpleural blebs as a feature.

Unusual radiological features on diffusion-weighted imaging in myelin oligodendrocyte glycoprotein-associated disease

We report an unusual radiological appearance in a patient with myelin oligodendrocyte glycoprotein-associated disease (MOGAD).1 A 53-year-old Caucasian man presented with a 2-week history of pain on eye movements and...

Epidermoid Cyst Extending Along Trigeminal Nerve Pathway with Unusual Imaging Findings

Epidermoid cysts (ECs) are benign extraaxial tumors. They frequently occur at the cerebellopontine angle and parasellar regions. However, they rarely occur in the Meckel's cave. Typically, ECs appear as a hypointense mass on T1-weighted magnetic resonance imaging (MRI) and hyperintense on T2-weighted MRI. However, ECs may occasionally present as hyperintense on T1-weighted imaging and hypointense on T2-weighted imaging. When this occurs, they are known as white epidermoid cysts. We present a case of a 25-year-old woman with a 3-month history of hypoesthesia in the distribution of the right trigeminal nerve. MRI showed a lesion located within the Meckel's cave. The MRI signal was heterogeneous, with hyperintense areas on T1-weighted images, being hypointense on T2-weighted imaging. Preoperative suspicion was trigeminal schwannoma with unusual radiologic features. Finally, the pathologic diagnosis was epidermoid cyst. Therefore to establish a proper preoperative diagnosis, one should be aware that ECs can occur in Meckel's cave and with unusual radiologic features, as occurred in the case described earlier.

Holocord Tanycytic Ependymoma: An Interesting Case with Unusual Presentation, Challenging Histological Diagnosis, and Single-staged Complete Tumor Resection.

ABSTRACTAn interesting case of intramedullary holocord cystic tumor in an 11-year old boy is reported, who presented with unusual clinical manifestations and radiological features. Gross total resection of the tumor was performed in a single-staged surgery. A rare combination of unusual presentation, uncommon histopathological findings, and challenges in the selection of surgical options were discussed with a detailed review of the literature.

Infarto bitalámico por trombosis venosa cerebral profunda hallazgos clínicos y radiológicos

La enfermedad cerebrovascular es un problema de salud pública mundial, considerada dentro de las primeras causas de mortalidad. La trombosis venosa cerebral (TVC) es una de sus patologías, que a pesar de ser infrecuente puede llevar a severas complicaciones en el paciente. Es por eso que se presentan dos casos de infartos bitalámicos secundarios a trombosis venosa cerebral profunda, con hallazgos clínicos e imagenológicos inusuales que hicieron aún más difícil su diagnóstico. Debido a las diferentes funciones que posee el tálamo además de la infrecuencia de la trombosis venosa cerebral profunda, la presentación clínica sigue siendo atípica y es usual que se consideren otros diagnósticos al inicio del evento, por lo tanto, consideramos importante proyectar estudios con muestras de mayor tamaño para definir con claridad la clínica y los hallazgos radiológicos de esta patología.

Unusual radiological and histological presentation of a diffuse leptomeningeal glioneuronal tumor (DLGNT) in a 13-year-old girl

Diffuse leptomeningeal glioneuronal tumors (DLGNTs) are newly recognized as an entity in the 2016 revision of the WHO Classification of tumors of the central nervous system. They typically present as diffuse leptomeningeal infiltrates along the neuraxis with focal and superficial involvement of the parenchyma. Here, we report a DLGNT with unusual radiological and histological features. A 13-year-old girl presented with scoliosis and back pain. Magnetic resonance imaging demonstrated a syrinx from C2 to T11 and an intramedullary mass from T6 to T9-10. No leptomeningeal involvement was recognized. Histological examination of the gross total resection specimen revealed a low-grade neuroepithelial neoplasm predominantly infiltrating the spinal cord and only focally involving the leptomeninges. Chromosome microarray identified co-deletion of the short arm of chromosome 1 and the long arm of chromosome 19 as well as fusion of the KIAA1549 and BRAF genes. Next-generation sequencing demonstrated wild-type alleles at the mutational hotspots of IDH1 (R132) and IDH2 (R140 and R172). In contrast to most reported DLGNTs, the tumor described in this manuscript was characterized by a predominant parenchymal component and only minor leptomeningeal involvement both radiographically and histologically. Our case, therefore, expands the spectrum of radiological and histopathological features of this new entity. It also highlights the critical role of molecular genetic testing in establishing the diagnosis of DLGNT in unusual cases.

Atypical Femur Fractures: Review of Epidemiology, Relationship to Bisphosphonates, Prevention, and Clinical Management.

Bisphosphonates (BPs) are highly effective in treating osteoporosis and reducing hip, vertebral, and other fractures by as much as 50% to 70%. However, since 2006, atypical femur fractures (AFFs) emerged as potential side effects of BPs and other treatments. These fractures have unusual radiologic features and occur with little trauma. Public concern has led to a >50% decrease in BP usage. AFFs are rare: for each AFF, >1200 fractures, including 135 hip fractures, are prevented. Case definition criteria were updated by the American Society of Bone and Mineral Research in 2014. Many epidemiologic studies have been reported, and although methodologically challenging, generally support a BP-AFF association. However, the magnitude of the association between BPs and AFFs is uncertain: estimates of relative risk for AFFs among BP users vs nonusers range from 1 to 65 with a meta-analysis estimate of 1.7. Although mechanistic studies have proposed several hypotheses explaining how BPs might decrease bone strength, AFF pathogenesis remains uncertain and cannot explain the paradox of efficacy of reduction of common fractures while increasing risk for rare fractures at one site. There are several consistent risk factors, including Asian race (in North America), femoral bowing, and glucocorticoid use, whereas others remain unclear. Consensus is emerging about strategies to prevent AFFs in BP users (including drug holidays after 5 years' use in some patients). In conclusion, AFFs can be devastating, but even under the most pessimistic assumptions, the benefit/risk ratio is highly positive for BPs, particularly during 3 to 5 years of use. As understanding of AFFs increases, it is becoming increasingly possible to maximize BP benefits while minimizing AFF risk.

A Case Report of a Ganglion Cell Containing Giant Pituitary Adenoma Showing Unusual Demographic and Radiological Features

AbstractThe occurrence of a ganglion cell containing pituitary adenoma is an uncommon entity. We report a rare case of a sellar mass of ganglion cell containing pituitary adenoma showing unusual demographic and radiologic features.

Spectrum of early lung cancer presentation in low-dose screening CT: a pictorial review.

The typical presentation of early stage lung cancers on low-dose CT screening are non-calcified pulmonary nodules. However, there is a wide spectrum of unusual focal abnormalities that can be early presentations of lung cancer. These abnormalities include, for example, cancers associated with ‘cystic airspaces’ or scar-like cancers. The detection of lung cancer with low-dose CT can be affected by the absence of intravenous contrast medium. As a consequence, endobronchial and central lesions can be difficult to recognize, raising the potential for missed cancers. Focal lesions arising within pre-existing lung disease, such as lung fibrosis or apical scars, can also be early lung cancer manifestations and deserve particular consideration as recognition of these lesions may be hindered by the underlying disease. Furthermore, the unpredictable growth rate of lung cancer, which ranges from indolent to aggressive cancers, necessitates attention to the wide spectrum of progression in lung cancer appearance on serial low-dose CT scans. In this pictorial review we discuss the spectrum of early lung cancer presentation in low-dose CT screening, highlighting typical as well as unusual radiological features and the varied growth rates of early lung cancer.Teaching Points• There is a wide spectrum of early presentations of lung cancer on LDCT.• Low radiation dose and the absence of contrast medium injection can affect lung cancer detection.• Lung cancer growth shows various behaviours, ranging from indolent to aggressive cancers.• Familiarity with LDCT technique can improve CT screening effectiveness and avoid missed diagnosis.

Odontoameloblastoma: A rare case with unusual presentation

The odontoameloblastoma (OA), also known as ameloblastic odontoma, is a very rare odontogenic tumor that is similar to ameloblastoma in its locally aggressive behavior. OA includes odontogenic ectomesenchyme in addition to odontogenic epithelium that resembles an ameloblastoma both in structure and in behavior. Its clinical presentation, however, often mimics the more innocuous odontoma, and hence, the recognition of its aggressive nature is commonly only ascertained after its histopathologic diagnosis following enucleation. This paper presents a rare case of OA with unusual clinical and radiological features.

A Single Mass Forming Colonic Primary Mantle Cell Lymphoma.

Mantle cell lymphoma (MCL) is a subtype of non-Hodgkin's lymphoma (NHL) comprising around 7% of adult NHL. It is characterized by a chromosomal translocation t(11:14) and overexpression of Cyclin D1. The incidence of secondary gastrointestinal tract involvement in MCL ranges from 10 to 28% in various series. However primary gastrointestinal MCL is very rare, accounting for only 1 to 4% of primary gastrointestinal lymphomas. The most common endoscopic feature of primary intestinal MCL is multiple lymphomatous polyposis. In rare cases it presents as protruded lesions or superficial lesions. Single colonic mass presentation is an extremely infrequent presentation. MCL has an aggressive course with quick progression, and most cases are discovered in the advanced stages. Colonic biopsies with histologic examination and specific immunohistochemical staining are the gold standard for a proper diagnosis. We report a case of a single mass forming mantle cell lymphoma of the ascending colon in a 57-year-old female patient with unusual colonoscopic and radiologic features and describe the therapy the patient received, thereby adding to the spectrum of clinical presentations of this aggressive lymphoproliferative disorder.

Unsuspected pregnancy during hysterosalpingography.

Dear Editor Hysterosalpingography (HSG) is now increasingly used as the first-line investigation to assess the uterine cavity and tubal patency in infertility work-up. Most patients with a history of infertility do not use a contraceptive method and due to irregular menstrual cycles, menstrual history is not always reliable. In this letter, we emphasize on clinical implications for preventing inadvertently performed HSG during pregnancy. A 34-year-old woman with a four-year history of infertility was referred for routine base investigation by pelvic ultrasound before intrauterine insemination (IUI). HSG was carried out one month ago, 3 days after menstrual bleeding had stopped. Although she had regular menstruations, she had an abnormal bleeding one month ago and was unaware of her pregnancy and decidual bleeding was presumed as menstrual bleeding. Therefore, the patient was regarded as not pregnant and no β-HCG test was performed before the HSG procedure. HSG of this patient illustrated a large endometrial cavity with a filling defect, which was reported as myoma, and the patient was referred for ultrasound investigation of the uterine filling defect (Figure 1 A, ​,B).B). Ultrasonography showed a 6 to 6.5-week gestational age embryo without a heart rate. Abortion occurred after a few days. Although there have been only a few case reports on undiagnosed pregnancy during (HSG) (1-7), it is important to emphasize on the unusual radiological features of this condition to alert radiologists and gynecologists reporting HSG. Early pregnancy during HSG may be recognized by a double outlined uterine cavity (DOUC) and the intrauterine filling defect denotes the fetal sac (1-7).However, a normal HSG cannot exclude early pregnancy during HSG (1). Contrast media infiltrating the decidual lining is responsible for the DOUC appearance (Figure 2). This sign can also suggest hyperplasia or late normal secretory endometrium. The filling defect can also be a sign of endometrial polyp, submucosal myomas or synechiae. Detection of DOUC sign should assist the operator to terminate the introduction of contrast medium and make a certain interpretation of early pregnancy (2). Although there have been several reports on the normal outcome in such cases (1-7), the potential concerns are teratogenic risks, miscarriage and displacement of the fertilized ovum (ectopic pregnancy,) due to the side-effect of the flushing effect of contrast media (3). The risk of mutation is low due to low exposure during HSG and termination is not recommended (4). Figure 1. A and B, HSG illustrates a large endometrial cavity with a filling defect Figure 2. Double outlined uterine cavity (DOUC) due to contrast material infiltrating into the endometrium during early pregnancy (arrows). Inadvertently performed HSG during pregnancy can be prevented by: Pelvic ultrasound evaluation before HSG (3) Scheduling the procedure during the early proliferative phase Maintaining a high index of suspicion, and not relying solely on the menstrual history. A pregnancy test on the day of the procedure,even in women with regular cycles and particularly for women with one irregular cycle or amenorrhea is mandatory.

Idiopathic Pulmonary Hemosiderosis in an Adult with Unusual Radiologic Features

ABSTRACT Idiopathic pulmonary hemosiderosis is an exceptionally rare cause of diffuse alveolar hemorrhage that occurs primarily in infants and children. Few cases are reported in adults. Patients usually present with recurrent episodes of hemoptysis, fatigue breathlessness and severe anemia with asymptomatic periods in between. Our patient, who was diagnosed with idiopathic pulmonary hemosiderosis demonstrated diffuse ground glass opacity, focal centrilobular emphysema and multiple sub pleural cysts and few parenchymal cysts during acute episode of hemoptysis. Unusual findings in our case were sub pleural cysts, parenchymal cysts and focal centrilobular emphysema which was not documented in any case reports of idiopathic pulmonary hemosiderosis cases to that of our knowledge. How to cite this article Kasilingam SK, Prashanth S, Govindagoudar MB, Devaramani B, Swamygowda CC. Idiopathic Pulmonary Hemosiderosis in an Adult with Unusual Radiologic Features. J Postgrad Med Edu Res 2014;48(4):199-200.

Isolated IgG4-related interstitial lung disease: unusual histological and radiological features of a pathologically proven case

IgG4-related lung disease is commonly associated with autoimmune pancreatitis. Recently, isolated IgG4-related interstitial lung disease (ILD) without other organ involvement has newly been reported in two cases with clinical features of nonspecific interstitial pneumonitis (NSIP).We report the first case of an isolated IgG4-related ILD in a 78-year-old man with dry cough and dyspnea, whose clinical findings proved to be different from NSIP. Serum IgG4 levels were increased. Chest CT scan revealed bilateral consolidations especially in the lower lobes, enlarged mediastinal and hilar lymph nodes and pleural effusions. Video-assisted thoracoscopic (VATS) lung biopsy revealed a pattern similar to usual interstitial pneumonia (UIP) and an abundant IgG4-positive plasma cell infiltration. He was effectively treated by steroid therapy.Increasing recognition of IgG4 related diseases has led to a growing number of new entities. The novel concept of isolated IgG4-related ILD as a pulmonary manifestation of a systemic IgG4-related disorder should be taken into account as a possible differential diagnosis of ILD and mass-forming lesions, even when no other organ manifestation is clinically apparent at the time of diagnosis. Lung specific diagnostic criteria and algorithms are required to enhance diagnostic accuracy in cases of possible IgG4-related ILD.

Isolated IgG4-related interstitial lung disease: unusual histological and radiological features of a pathologically proven case

IgG4-related lung disease is commonly associated with autoimmune pancreatitis. Recently, isolated IgG4-related interstitial lung disease (ILD) without other organ involvement has newly been reported in two cases with clinical features of nonspecific interstitial pneumonitis (NSIP). We report the first case of an isolated IgG4-related ILD in a 78-year-old man with dry cough and dyspnea, whose clinical findings proved to be different from NSIP. Serum IgG4 levels were increased. Chest CT scan revealed bilateral consolidations especially in the lower lobes, enlarged mediastinal and hilar lymph nodes and pleural effusions. Video-assisted thoracoscopic (VATS) lung biopsy revealed a pattern similar to usual interstitial pneumonia (UIP) and an abundant IgG4-positive plasma cell infiltration. He was effectively treated by steroid therapy. Increasing recognition of IgG4 related diseases has led to a growing number of new entities. The novel concept of isolated IgG4-related ILD as a pulmonary manifestation of a systemic IgG4-related disorder should be taken into account as a possible differential diagnosis of ILD and mass-forming lesions, even when no other organ manifestation is clinically apparent at the time of diagnosis. Lung specific diagnostic criteria and algorithms are required to enhance diagnostic accuracy in cases of possible IgG4-related ILD.

Spontaneous Multiple-Channel Recanalization of Internal Carotid Artery Occlusion with Unusual Radiological Features

Spontaneous Multiple-Channel Recanalization of Internal Carotid Artery Occlusion with Unusual Radiological Features

Mimics and Rare Presentations of Pediatric Demyelination

This article reviews the features that should prompt consideration of diseases that mimic acquired demyelinating syndromes and multiple sclerosis using vignettes to highlight unusual clinical and radiologic features. Cases of transverse myelitis, spinal infarction, acute disseminated encephalomyelitis, fever-induced refractory epileptic encephalopathy in school-aged children, small-vessel vasculitis, Griscelli syndrome type 2, cysticercosis, vitamin B12 deficiency, and chronic relapsing inflammatory optic neuropathy are presented.