BJR Case Reports最新文献

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.

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.

Currently, portal vein (PV) resection is performed in 10%-40% of liver resections performed for hilar cholangiocarcinoma (HC). The defect is generally repaired with a patch of an autologous vein graft or end-to-end anastomosis after complete separation of the main PV trunk and the left PV. Postoperative PV thrombosis is a severe complication occurring in 2%-9% of patients requiring PV reconstruction. Here in, we presented a 55-year-old man with abdominal pain without hyperbilirubinaemia who was diagnosed with HC. The patient underwent right hepatectomy, extrahepatic biliary resection, and PV resection. The PV defect was repaired with autologous umbilical vein graft. Following the operation, acute PV thrombosis was encountered postoperative day 1. We conducted the treatment of the early acute PV thrombosis by intraportal tPA and PV stenting with endovascular approach.

A 63-year-old male presented with acute onset of intermittent dizziness, visual disturbances, and left temporal headache. Investigations revealed a dural arteriovenous fistula (dAVF) at the left sigmoid sinus, classified as Cognard type IIb. Successful therapeutic transvenous embolization was performed using coils and Onyx, resulting in complete resolution of the dAVF without immediate complications. However, 3 days post-embolization, the patient developed headache, dizziness, visual discomfort, and alexia. MRI findings suggested vasogenic oedema in the left temporo-occipital area due to venous outflow obstruction. Despite treatment with enoxaparin and dexamethasone, the patient experienced progressive symptoms including difficulty in object naming, memory decline, and nonconvulsive seizures. Follow-up imaging indicated improvement of oedema and stable minimal focal gliosis. This rare case of a patient developing alexia following endovascular embolization of a dural AVF highlights the importance of post-procedural monitoring and suggests potential benefits of prophylactic anticoagulation to reduce the risk of probable complications.

Chondromyxoid fibroma-like osteosarcoma (CMF-OS) is an exceptionally rare and low-grade variant of osteosarcoma, as classified by the World Health Organization. Misdiagnosis is common in CMF-OS, often leading to delays in definitive surgical intervention. CMF-OS exhibits variable imaging features, frequently mimicking chondromyxoid fibroma. It may present as osteolytic, osteogenic, or expansive lesions, often associated with soft tissue invasion, cortical disruption, and occasionally a periosteal reaction. Cases have been reported in diverse anatomical locations, including the craniofacial region and bones of the lower limbs. Histologically, CMF-OS is distinguished by its unique mucoid appearance, characterized by loose aggregates of stellate and spindle-shaped tumour cells embedded within a highly myxoid stroma. Surgical resection remains the cornerstone of treatment for CMF-OS, emphasizing the importance of accurate diagnosis to facilitate timely and appropriate management.

Idiopathic granulomatous mastitis (IGM) is an uncommon benign disease thought to have an autoimmune origin. After massive vaccination against COVID-19, mRNA vaccines have been associated with various possible adverse effects. Among those involving the breast, the most common are ipsilateral axillary lymphadenopathies and transient breast oedema. We present the case of a young woman who developed IGM after mRNA vaccination against COVID-19. We describe the clinical and imaging findings and management of this case, discussing the evidence for a possible link between vaccination and the development of this uncommon inflammatory process and underlining the importance of including this entity in the differential diagnosis in this scenario.

Fibular hemimelia (FH) is a rare congenital abnormality where the fibula is either totally or partially absent. It can occur alone or alongside other skeletal malformations, and in very few cases, it may occur along with non-skeletal anomalies. A 4-year-old female was diagnosed with unilateral right-sided FH, accompanied by limb shortening, a right-side ankle deformity, valgus foot, and 3 lateral rays that had been totally absent since the first week of birth. And she was incidentally diagnosed with spina bifida occulta at a 3-year-old age. FH is most commonly unilateral and mostly affects the right side, leads to a limb-length discrepancy, and maybe comes as a symptom of a syndrome such as Foetus-Fibula-Ulna syndrome and so on. Risk factors include prenatal history, drugs, and no supplementation intake. Together, these elements could be a contributing factor to our condition. The congenital limb abnormalities may be discovered during pregnancy by sonography. If present, other investigations need to be done to differentiate the diagnosis. Treatment according to degree: mild, moderate, and severe cases. In our case, the type 2 FH characteristic was shown by sonography, accompanied by limb shortening, lateral rays absent, and a non-skeletal anomaly (spina bifida). These anomalies very rarely come with each other at the same time. To the best of our knowledge, this case is exceptional in that FH is present at birth alongside spina bifida.

Spontaneous rupture of ovarian dermoid cysts is uncommon. We describe a case of a 32-year-old female who presented to the emergency room with abdominal pain and distension. The patient was discovered to have a ruptured dermoid cyst which caused chemical peritonitis and was managed surgically.

Giant cell tumours (GCTs) of the larynx are extremely rare. The most affected structure is the thyroid cartilage and only 44 cases are reported in the literature.¹ Clinically, their first manifestation is usually a palpable neck mass, often accompanied by hoarseness, dyspnoea, and/or dysphagia depending on size and location. GCTs are benign neoplasms, yet awareness of this entity is crucial as their aggressive local behaviour can cause significant morbidity with airway obstruction and can simulate a malignancy. The differential diagnosis is broad and remains a clinical and radiological challenge. Indeed, the final diagnosis is established by histology postoperatively. Surgery is the preferred treatment but may impair voice quality. For incomplete surgical resections and high surgical risk lesions, denosumab treatment is a valuable option. We share our experience on GCTs in a young adult presenting as a supraglottic mass.

Aneurysms of an aberrant right subclavian artery (ARSA) are rare but constitute a potentially lethal condition, especially with concomitant Marfan syndrome (MFS). A 27-year-old female with confirmed MFS presented with a relevant progression of a known aneurysm of an ARSA in MRI. The patient had undergone valve-sparing aortic root replacement (David procedure) 4 months prior. After interdisciplinary discussion, she underwent endovascular exclusion of the aneurysm using a combination of established vascular plugs and novel shape memory polymer embolization plugs to fill the large ARSA aneurysm volume. The shape memory polymer embolization plugs expand in the vessel to a porous scaffold, designed to support thrombus formation throughout its structure. The polymer is also radiolucent, which minimizes artefact and facilitates follow-up imaging. Development of a strategy for the treatment of ARSA aneurysms is challenging and different surgical, endovascular, and combined approaches have been published. Interdisciplinary discussion is crucial to minimize the overall risk and trauma. In our case of a young female and new mother, an endovascular approach was successfully and safely performed. The future need for surgery due to concomitant MFS is expected.