Case Reports in Radiology

A 60-year-old female presented for further assessment of a new right breast lump (November 2020). She had a history of a stage I (T1bN0M0) right breast invasive mammary carcinoma, grade 2 (score 7/9) with receptors ER/PR-negative, HER2/neu-positive, diagnosed four years prior to her current presentation. At that time, she was treated with a right breast lumpectomy and local radiation. Breast assessment with contrast-enhanced mammography showed new skin thickening with associated enhancement within the palpable region. Histology of subsequent ultrasound-guided biopsy found radiation-induced breast angiosarcoma. Breast angiosarcoma is a rare entity that represents less than 1% of all breast cancers. To our knowledge, this is the first case describing the imaging findings of breast angiosarcoma on contrast-enhanced mammography.

We report the case of a 45-year-old woman with a slow-growing palpable nodule on the left breast, confirmed as a well-defined opacity on mammography, corresponding to a 5 cm hyperechoic lesion on ultrasound, and considered, on the basis of clinical examination and radiological findings, to be consistent with a lipoma. One year later, the patient represented with an enlarged left breast mass and underwent further imaging investigation with subsequent diagnosis of primary breast angiosarcoma obtained via a Vacuum-Assisted Breast Biopsy. The patient developed metastatic disease and succumbed to the disease one year after definitive diagnosis. Primary breast angiosarcoma is a rare malignant vascular neoplasia, characterized by aggressive patterns, poor prognosis, and absence of pathognomonic radiological features. Currently, there are no evidence-based guidelines regarding treatment, even though wide surgical resection followed by chemo- and radiotherapy appears to improve survival.

Ovarian cancer is the most fatal gynecologic malignancy. The incidence of ovarian cancer among female-to-male transsexuals receiving treatment with testosterone is unknown, and few cases have been reported in the literature. We report a recent case in our institution, a 23-year-old female-to-male transsexual patient who received testosterone supplementation. The patient underwent a pelvic magnetic resonance imaging to study an ovarian complex cyst that revealed the presence of a bilateral ovarian tumor with imaging features of borderline serous tumor. These masses were surgically removed and the pathology report confirmed the diagnosis associated with noninvasive peritoneal implants and the presence of numerous androgen receptors in the tumor cells. Although there is still insufficient data to validate a direct correlation between hormonotherapy and ovarian cancer in these patients, this case may reinforce previous reports on this association and highlights the relevance of radiological follow-up and bilateral salpingo-oophorectomy as part of gender reassignment surgery.

We demonstrate a rare case of inferior mesenteric artery arteriovenous malformations leading to ischemic colitis in a 76-year-old female. Our patient presented with three months of nausea, vomiting, and diarrhea. Colonoscopy displayed diffuse mucosal vascular congestion while CTA and MRA displayed AVMs in the region of the IMA; however, cohesive clinical agreement on AVM from multiple specialties was difficult given its rare occurrence and nonspecific clinical, histopathologic, and directly visualized findings. The three noted dominant AVMs were eventually selected with coil and liquid embolization with successful cessation of symptoms and no major complications. Our discussion focuses on intervention and stressing the importance of radiologic findings, as IMA AVMs, rarely present as ischemic colitis and therefore can clinically masquerade as other etiologies.

Cerebral cavernous malformations (CCMs) are dilated blood vessels which can develop sporadically or in familial form and are the commonest malformations of blood vessels in the spinal cord and brain. The familial form is an autosomal dominant gene mutation disorder. This condition can be diagnosed with magnetic resonance imaging (MRI) and computed tomography (CT) scan, but the modality of choice is MRI because of its high sensitivity. We report a case of a 73-year-old woman with an asymptomatic multiple familial cerebral cavernous malformation (FCCM) which was previously misdiagnosed as multiple cerebral metastases on CT scan. A brain MRI performed correctly diagnosed her condition as FCCM based on the typical MRI appearances. In order not to misdiagnose brain lesions like CCM on CT scan, for cerebral metastases in resource-poor settings, radiologists must recommend advanced imaging modalities like MRI for further evaluation, thereby avoiding unnecessary invasive surgical biopsies.

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation caused by a recessive mutation in pantothenate kinase 2 gene (PANK2). We present a case of an 11 year-old boy presenting extrapyramidal signs and developmental regression. T2-weighted images showed the classic eye of the tiger sign seen in pantothenate kinase-associated neurodegeneration.