BJR Case Reports最新文献

Paragangliomas (PGLs) during pregnancy is an uncommon neuroendocrine tumour that is associated with increased maternal and foetal morbidity and mortality. Furthermore, it is even rarer for these to be located within the urinary bladder, with a prevalence of <0.1% of all bladder tumours. This case report details a 29-year-old female who presented with pre-syncope, headache, and palpitations during voiding. Ultrasound and magnetic resonance imaging of the pelvis revealed a mass in her bladder, and biochemical workup demonstrated elevated plasma normetanephrine levels and a positive clonidine suppression test. Surgical resection and histopathology of the mass were consistent with PGL. Post-operatively, the patient was normotensive, her normetadrenaline levels normalized and she was discharged 3 days after the operation. She progressed through the remaining pregnancy without any significant complications and delivered a healthy baby at full term. This case depicts the rare nature of PGLs in pregnancy and the importance of antenatal imaging combined with a multidisciplinary approach for a successful pregnancy outcome.

This case report describes a 47-year-old premenopausal woman who presented with abdominal discomfort and had been previously monitored for a suspected uterine leiomyoma. MRI revealed a 15 cm mass within the uterine body and slight intratumoural haemorrhage. One month later, the patient presented with acute abdominal pain and was admitted to the hospital. Contrast-enhanced CT and MRI scans showed significant tumour enlargement to 20 cm, with disruption along the left margin, haemorrhagic ascites, and potential dissemination to the omentum. Total hysterectomy, bilateral salpingo-oophorectomy, and retroperitoneal lymph node dissection revealed uterine leiomyosarcoma with extensive necrosis and rupture. Pathological examination classified the tumour as stage IIB under the International Federation of Gynecology and Obstetrics system, with confirmed omental metastasis. Despite adjuvant chemotherapy, the patient experienced pelvic recurrence 10 months later and died 15 months postoperatively. This case emphasizes the importance of prompt gynaecological intervention for uterine masses exceeding 10 cm, as the risk of rupture increases, particularly when malignancy cannot be excluded based on imaging. Rupture in such cases is associated with a higher risk of recurrence and poor prognosis, making early surgical resection a reasonable consideration. Radiologists should actively communicate these risks to gynaecologists to facilitate timely surgical decision-making and improve patient outcomes.

Radiofrequency ablation (RFA) of renal tumours is one of the major procedures in nonvascular interventional radiology, but it is difficult to perform in patients who are limited to the supine position. In this technical note, we present 2 cases in which RFA of renal tumours was performed via a dorsal approach in patients in the supine position by using a mat with a space for the procedure. Three polyorefin mats, 15 cm high and of different lengths, were arranged on the CT table to provide space for the procedure. Each patient was placed supine on these mats, and RFA of the renal tumour was performed via a dorsal approach under CT fluoroscopy. Two patients successfully underwent RFA via the dorsal approach with no postural distress during the 40- and 75-min procedures. There were no complications related to the procedure. The dorsal approach using a mat with space for the procedure is particularly useful for performing renal tumour RFA in patients with limited supine positioning. The method of creating a space on the patient's dorsal side by arranging 3 polyorefin mats is reproducible in terms of simplifying the approach and is expected to be applied to other nonvascular interventions.

This case report describes the rare occurrence of a pre-operative radiological diagnosis of uterine torsion in the non-gravid uterus. A 78-year-old female presented with a 5-day history of worsening non-specific gastrointestinal symptoms. Her admission CT study initially reported a large adnexal mass lesion causing obstruction of neighbouring small bowel loops. Management was initiated under the presumption of a complex uterine fibroid causing local small bowel obstruction. Only a secondary radiological review-conducted due to persistent abdominal pain-identified the characteristic "whirlpool" sign of the uterine cavity and prompted the differential of uterine torsion. Contrast-enhanced MRI study further confirmed this suggestion with a lack of uterine contrast uptake and the "X-sign." The patient subsequently had an emergency laparotomy for a total abdominal hysterectomy and bilateral salpingo-oophorectomy. Intra-operative findings and further histological analysis demonstrated a distorted uterine cavity with haemorrhagic infarction, confirming a diagnosis of uterine torsion.

Mono-sialo-tetra-hexosylganglioside, also known as infantile GM1 gangliosidosis, is an autosomal recessive lysosomal storage disorder caused by a mutation in the GLB1 gene that stops the β-galactosidase enzyme from working. We have discussed a case of infantile GM1 gangliosidosis which presented with abnormal body movements, extensive dermal melanocytosis over back and gluteal region, coarse facial features, and macrocephaly. Radiological features included antero-inferior beaking of second, third, and fourth lumbar vertebrae, bilateral hyperdense thalami on non-contrast CT. On T2-weighted images, there is a persistently high signal intensity of the white matter and subcortical U fibres, which indicates bilateral bulky thalami with T2 hypointense and significantly impaired myelination. Reduced β-galactosidase activity verified the diagnosis.

A 28-mm diameter and partially thrombosed intracranial aneurysm was found in a 10-year-old boy on an MRI for non-specific headaches. The large neck incorporated the left internal carotid artery (ICA) termination and proximal middle cerebral artery. Treatment was planned to prevent further growth and rupture. Because of the difficult anatomy, a braided stent was first placed across the aneurysm neck as a scaffold to allow for the placement of a flow-diverting stent after its endothelialisation. However, severe stent-induced endothelial hyperplasia was encountered when the flow diverter was inserted. This resulted in a transient ICA occlusion during the procedure before flow was restored by angioplasty. As a result, the patient suffered a mild transient dysphasia but permanent loss of vision in the left eye. All antiplatelet medications were stopped 1 year after the procedure without problem. The aneurysm has remained fully occluded in the 7 years since.

Primary melanomas of the spinal meninges are exceedingly rare. While both intramedullary and extramedullary spinal melanomas have been reported, to the best of our knowledge, this is the first noted case of primary spinal melanoma that has both intramedullary and intradural extramedullary components. We present a case of a 61-year-old female presenting with a 1-year history of lower back pain, bilateral lower extremity pain, and perceived weakness of left foot. Magnetic resonance imaging of the thoracic spine suggested intramedullary and intradural extramedullary mass at levels T8-T12. A T7-T12 laminectomy with resection of the spinal cord mass revealed a pathological diagnosis of primary meningeal melanoma. This case highlights the complexity of diagnosing spinal melanomas, which often mimic more common spinal tumours such as ependymomas, astrocytomas, metastasis, or lymphoma. Often meningeal melanomas require extensive imaging and clinical evaluation to exclude other sites of potential primary melanoma. This case adds to the sparse literature by documenting a rare manifestation and could provide valuable insights into the diagnosis and management of similar cases.

Setting the echo time to zero allows for the acquisition of bone images that were otherwise difficult to obtain with conventional MRI and clear visualization of CT-like MR images. This technique is mainly useful for detecting compression fractures; however, studies examining bone tumours have been lacking. Furthermore, no reports to date have investigated the usefulness of MRI for evaluating images before and after radiotherapy (RT) for bone tumours. Therefore, plain CT and MRI (T1/T2-weighted image and CT-like MRI) were performed under the same conditions before and after radiation therapy (RT) and examined the obtained images. An 86-year-old man received RT (30 Gy/3 fraction) for painful lumbar metastasis from prostate cancer. At 2 months after RT, no changes in T2-weighted images and plain CT scans were noted, but CT-like MRI showed an increase in the signal inside the bone metastasis. Examining how the images change over time is imperative given the difficulty of predicting the duration of the pain relief effects of RT for bone metastases. Therefore, the current case report explored whether combining various modalities, such as CT and MRI, could predict prognosis. We highlight the importance of investigating whether signal changes are correlated with pain symptoms and whether MRI can be a predictor.

Isocitrate dehydrogenase 1 gene (IDH1, [NADP (+)] 1) encodes for an enzyme that catalyses the oxidative decarboxylation of isocitrate into α-ketoglutarate. However, it is well known that mutant IDH1 (mu/IDH1) promotes the accumulation of D2-hydroxyglutarate, an oncometabolite that stimulates tumourigenesis through various secondary, complex metabolic effects. IDH1 and also IDH2 gene mutations have been identified in several types of cancers, such as gliomas, conventional central and periosteal malignant cartilaginous tumours, cytogenetically normal acute myeloid leukaemia, and cholangiocarcinoma. Here, we present 4 cases of Chilean patients with different primary malignant tumours harbouring IDH1. One patient carried the IDH1 p. R132H mutation, the other has IDH1 p. R132L mutation, and the last 2, IDH1 p. R132C mutation. Of note, all these patients had a very poor response to chemotherapy and a rapid disease progression, resulting in a relatively swift death. Next-Generation Sequencing results highlighting mutations in those genes, and other cancer genes were further subjected to in silico study of protein-protein interactions, gene ontology, and pathway enrichment. We also include a state-of-the-art literature review about IDH1 and IDH2 molecular biology, biochemical properties, and the role of their mutations in cancer development and progression, along with insights into regional variations in cancer biology and treatment response.

Anaplastic thyroid carcinoma (ATC) is a highly aggressive thyroid malignancy, comprising 1%-4% of thyroid cancers, with rapid local invasion and distant metastasis. We report a 57-year-old male with ATC presenting with a neck mass, hoarseness, and dysphagia. Imaging showed cancer thrombus in bilateral internal jugular veins, with a biopsy confirming ATC. This case highlights the imaging and pathological features of ATC and emphasizes the importance of ultrasound in evaluating intravascular cancer thrombus, aiding accurate diagnosis and management.