Imaging manifestations of juvenile hyaline fibromatosis: A case report and literature review

Objective: Juvenile hyaline fibromatosis (JHF) is an autosomal recessive condition caused by a mutation in capillary morphogenesis gene 2 (CMG2) on chromosome 4q21. JHF is an extremely rare genetic disorder, and fewer than a hundred cases have been reported worldwide. In this case report, the clinical features, histopathological features and imaging manifestations of a case of JHF are presented. We present imaging manifestations of one case of JHF to deepen the radiologist’s understanding of this condition. The histopathological feature of JHF is hyaline degeneration involving skeletal muscle. Therefore, the lesion has a slightly high density on CT imaging, iso- or hypointense signal on T1WI and hypointense signal on T2WI. The boundary between the lesion and skeletal muscle is unclear. Methods: An 8-year-old male (case 1) was examined in our department with a complaint of multiple masses on the head, neck and back in 2021. The boy was the only child of his parents and was delivered at 40 weeks gestation by caesarean section. His parents were nonconsanguineous. Results : JHF displays multiple slowly or rapidly growing subcutaneous nodules. The imaging manifestations can reflect histopathological components, including nodular connective tissue and amorphous, partially calcified hyaline material.

Neonatal osteofibrous dysplasia: Synchronous tibial and fibular involvement is common

Osteofibrous dysplasia is a rare non-malignant fibro-osseous bone tumour, first described and characterised under this name by Campanacci (1976). It is most commonly encountered in the tibia of children and young adults, but less frequently seen in the neonate with only few prior reports in the literature. We report a case of neonatal congenital osteofibrous dysplasia, presenting with unilateral limb deformity at birth. Radiographs demonstrated well-defined mixed lytic-sclerotic lesions, in a previously unreported distribution in this age-group, confined to the distal metadiaphysis of the affected tibia and fibula. Open surgery was performed for deformity correction, with tissue biopsy confirming the radiographically-suspected diagnosis. We present the up-to-date clinical, radiological, and pathological findings in this case of a rare pathology with some novel features, within this age group, in disease distribution and consequent radiographic appearances. OFD should be considered in the differential of similar congenital deforming bone lesions of the lower limb. We also review the small number of previously published cases of congenital OFD in the neonate, noting in particular that the frequency of ipsilateral fibular involvement appears to be higher than that observed in older patients.

Co-existent breast malignancy and contralateral primary axillary tuberculosis

Breast tuberculosis is an extremely rare entity representing less than 0.1% of all breast disease in developed countries1. Tuberculous infections within the United Kingdom have seen a steady decline with the highest rates present within North West London where infection rates reach 24.8 per 1000002. The presentation can mimic malignancy and lymphatic involvement of the breast both clinically and mammographically, with nodules within the upper outer quadrant, making accurate diagnosis challenging.3 Approximately 30% of breast TB cases present with axillary lymphadenopathy and a recent case series review of approximately 44 cases in London found that the most common presenting feature was a solitary breast lump in 87% of cases.4 We present a case of a patient presenting with primary malignancy and contralateral nodal disease highly suspicious for breast malignancy. Subsequent investigation led to the identification of synchronous localized cancer and tuberculous lymphadenitis. Synchronous presentation is uncommon and recognition and differentiation is vital as axillary lymph node metastasis is the most important factor in the staging of breast carcinoma and determining the subsequent oncological and surgical management.

Bilateral adrenal haemorrhage with renal infarction after ChAdOx1 nCoV-19 AstraZeneca vaccination

Vaccine-induced thrombotic thrombocytopaenia (VITT) is a rare syndrome associated with the ChAdOx1 nCoV-19 (AstraZeneca) vaccine. We detail a case of vaccine-induced thrombotic thrombocytopaenia in a 47-year-old female who was found to have bilateral adrenal haemorrhage, renal vein thrombosis, renal infarction and pulmonary embolism 13 days post-vaccination with ChAdOx1 nCoV-19.

4d CT to assess spinal instability in developmental anomaly of posterior arch of atlas

Four-dimensional (4D) CT uniquely allows cinematic visualization of the entirety of joint motion throughout dynamic movement, which can reveal subtle or transient internal joint derangements not evident on static images. As developmental anomalies of the posterior arch can predispose to cervical spinal instability and neurological morbidity, precise assessment of spinal movement during motion is of clinical relevance. We describe the use of 4D-CT in a subject with partial absence of posterior C1 arch. This, to our knowledge, is the first such report. In at-risk individuals, 4D-CT has the potential to enable an assessment of spinal instability with a higher level of clarity and, in this sense, its more routine implementation may be a future direction.

A tumor association to be aware: endometrial cancer and colon cancer in relation to lynch syndrome

lynch syndrome (LS) is an autosomal dominant genetic disorder with incomplete penetration caused by a germline mutation in one of the genes of the deoxyribonucleic acid (DNA) mismatch repair system (MMR) namely: mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), mutS homolog 6 (MHS6), post-meiotic segregation increased 1 homolog 2 (PMS2) or the EpCAM (Epithelial CellAdhesionMolecule) gene, which causes the inactivation of MSH2. Patients with this syndrome have a high relative risk of developing cancers at a young age, led by colorectal cancer (CRC) and endometrial cancer in females. The diagnosis is suspected when the patient’s personal and family history meets the Amsterdam or Bethesda criteria. It is guided by immunohistochemistry (IHC) and/or molecular biology that show loss of expression of one or more proteins of the MMR system and microsatellite instability on tumor DNA. In case of positive IHC and/or molecular biology, the patient should be referred to an oncogenetic consultation for a definitive diagnosis. We present the case of a 49-year-old patient who presented an anaemic syndrome in metrorrhagia. After a clinical, imaging, biological and anatomopathological examination, the diagnosis of LS was made.

“Worm within worm”: acute appendicitis containing an adult Ascaris lumbricoïdes

Appendicitis is the first aetiology for abdominal surgical emergency. Ascariasis is the most common helminth infection in tropical countries where it is endemic. The ability of intestinal helminths to wander through the digestive system means that it can end up in the appendix lumen and lead to appendicitis by luminal obstruction. However, this presentation is still rarely described in the literature. In fact, most of the diagnoses of roundworm associated with appendicitis are made retrospectively by the discovery of its eggs on the pathological examination of an appendectomy specimen. We report the case of a 7-year-old patient living in a tropical area who consulted for acute right lower quadrant pain. The ultrasound suspected the diagnosis of appendicitis and also revealed multiple intestinal worms including one in contact with the inflamed appendix. Surgical exploration confirmed appendicitis associated with roundworm partly in the appendicular lumen through a perforation.

Intra-osseous migration in calcific rotator cuff tendinopathy- A novel depiction of temporal evolution on multi-modality imaging

We present a case of calcific tendinopathy of the rotator cuff with intraosseous migration of the calcification, treated with ultrasound-guided bursal steroid injection and followed up with multiple imaging modalities for a year following the initial presentation. The radiographs, ultrasound, CT, nuclear scintigraphy, and MRI images demonstrate the temporal evolution of the intraosseous migrated calcium and show how this pathology, in its acute phase, can mimic other pathologies like osteoid osteoma. The follow-up imaging also illustrated how the migrated intraosseous focus of calcification took a much longer time to heal compared to its intratendinous counterpart, possibly leading to the protracted course of recovery. This report also highlights a previously undescribed pattern of healing of the intraosseous migrated calcium on multiple imaging modalities.

Case series demonstrating in vivo MR safety of stainless steel (Chinese/Ring) IUDs

Intrauterine devices (IUDs) are one of the most common forms of long-term contraception used by patients around the world. Many studies have been performed over the past few decades demonstrating the safety of many common hormonal and metallic intrauterine devices in Magnetic Resonance (MR) imaging; however, the stainless steel ring IUD (often termed the “Chinese” IUD) is still considered MR Unsafe. This device was used in the 1980s and 1990s in China, where as many as 60 million women in China were using an IUD by 1988, and approximately 90% of those were stainless steel ring IUDs. In a major metropolitan area hospital such as ours with a large immigrant population, we encounter females with this ring IUD several times a year. As this population ages, the need for medical care (and concomitantly, MR imaging) is projected to increase. The purpose of this case review is to examine the imaging and clinical course of patients with stainless-steel ring intrauterine devices who safely received 1.5T Brain MR scans at our institution for clinically necessary diagnostic imaging.

A vaginal fibroepithelial stromal polyp: a case report with magnetic resonance images

A fibroepithelial stromal polyp is a benign soft tissue tumour that can occur in the vagina, vulva and uterine cervix. Magnetic resonance imaging (MRI) findings have been reported in patients with vulvar fibroepithelial stromal polyps, not in those with vaginal polyps. We present MRI findings of vaginal fibroepithelial stromal polyp in a postmenopausal female. A 1 to 2 cm firm vaginal mass arising from the left side of the vaginal wall with hypointense signal changes on T1W MRI was identified. A well-defined vaginal mass (1 cm diameter) was detected with inhomogeneous signal intensity on T2W images. However, a major portion had high signal intensity on diffusion-weighted images. A benign vaginal lesion with oedematous changes or myxoid degeneration was suspected. Vaginal resection was performed, and fibroepithelial stromal polyp was pathologically diagnosed. MRI may be a useful non-invasive modality for preoperatively diagnosing vaginal fibroepithelial stromal polyps.