Phosphaturic mesenchymal tumors: radiological aspects and suggested imaging pathway.

Phosphaturic mesenchymal tumors (PMTs) are rare mesenchymal neoplasms of soft tissue or bone origin that can give rise to a challenge in diagnostic imaging. These tumors are frequently associated with tumor-induced osteomalacia, also called oncogenic osteomalacia, which is a rare paraneoplastic syndrome characterized by ectopic secretion of fibroblast growth factor 23, a hormone that regulates serum phosphate level. PMTs show polymorphic features on both radiological findings and histological examination, causing problems in diagnosis owing to their similarity with other mesenchymal tumors. Thus, this paper aims to describe radiological aspects of PMTs and suggest an imaging pathway for accurate diagnosis throughout the evidence from the literature review.

Castleman disease: a rare case in a young woman.

Castleman disease is a rare lymphoproliferative disorder characterized by benign enlargement of lymph nodes. It is divided into unicentric disease, which involves a single enlarged lymph node, and multicentric disease, which affects multiple lymph node stations. In this report, we describe a rare case of a 28-year-old female patient with an unicentric Castleman disease. Computed tomography and magnetic resonance imaging revealed a well-circumscribed large mass in the left neck, characterized by intense homogenous enhancement and suspected for a malignant disease. The patient underwent an excisional biopsy for definitive diagnosis of unicentric Castleman disease and ruled out malignant conditions.

Extragonadal germ cell tumor: A rare case in dorsal region.

Extragonadal germ cell tumors (GCTs) are a rare group of neoplasms that account for 1%-5% of all GCTs. These tumors can present with an unpredictable behavior and clinical manifestations depending on different factors such as histological subtype, anatomical site, and clinical stage. We report the case of a 43-year-old male patient with a primitive extragonadal seminoma located in the paravertebral dorsal region, an extremely rare site. He presented to our emergency department with a 3-month history of back pain and a 1-week history of fever of unknown origin. Imaging techniques revealed a solid tissue arising from the vertebral bodies of D9-D11 and extending in the paravertebral space. After a bone marrow biopsy and exclusion of testicular seminoma, he was diagnosed with primitive extragonadal seminoma. The patient underwent five cycles of chemotherapy, and the follow-up CT examinations showed a reduction of the mass initially till a complete remission with no evidence of recurrence.

Magnetic Resonance Imaging in Autism Spectrum Disorders: clinical and neuroradiological phenotypes.

BACKGROUND AND AIM: Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders that can severely compromise social and cognitive functions in childhood. Magnetic Resonance Imaging (MRI) currently represents the gold standard as an in vivo and non-invasive study of the human brain morphology. This work aims to search for possible links between clinical phenotypes and radiological anomalies that may be relevant and pathognomonic in the subsequent diagnosis of ASDs. METHODS: This is a retrospective study in which 132 patients (112 males and 20 females) with neurodevelopment disorders, including ASDs, were enrolled. The population study was divided into three groups considering their own pathological diagnosis. All patients included in this population underwent genetic screening and one or multiple 1.5T MRI scans were performed to evaluate potential anomalies of the corpus callosum, periventricular white matter, ventricular space, cerebellum, subarachnoid space and thalamus. RESULTS: Univariate analysis showed that the presence of MRI brain abnormalities was a significant variable in predicting the presence of ASDs.  Increased ventricular volume was one of the most replicated findings in ASDs patients since it was reported to be statistically significant both in uni- and multivariate analysis, resulting even as a potentially predictive factor of diagnosis. CONCLUSIONS: This study can represent a starting point for the research of new radiological evidence that might be important to early diagnose ASDs and for making a differential diagnosis with all those conditions that mimic autistic traits, but which are not clinically connected to the spectrum disorder itself.

Two rare cases of pituitary apoplexy in adult females: a tricky diagnosis.

We reported two cases of women who suffered from a rare case of pituitary apoplexy, rare and potentially fatal clinical condition due to a hemorrhagic infarction of the pituitary gland due to a pre-existing macroadenoma. The onset of symptoms is often insidious and includes generic symptoms such as headache, vomiting, and visual disturbances. In this case report we discuss the typical CT and MRI imaging features of this rare clinical condition in order to help radiologists in the timely diagnosis for a more rapid and correct diagnostic framing.

Breast metastasis in a young pregnant woman affected by metastatic melanoma.

Metastasis to the breast from extramammary tumors are rare, and the most common cancer that metastasizes to this site is malignant melanoma (MM). Unfortunately, metastases from malignant melanoma reveal a widespread of the disease and a high likeliness of poor diagnosis. In this study, a case of left breast metastasis of MM in a young pregnant woman, with a fast progression of the mammary and systemic course of pathology and unfortunately poor prognosis is presented. Despite the role of pregnancy in MM has yet to be unraveled, our study encourages the theory that immunosuppression and hormonal changes due to pregnancy may aggravate melanoma prognosis.

Lumbar malignant peripheral nerve sheath tumor: a rare case in a young patient.

Malignant peripheral nerve sheath tumor (MPNST) is a rare soft tissue sarcoma that originate from peripheral nerves or from cells associated with the nerve sheath. We report the case of a 30­year­old male patient with a history of neurofibromatosis type I (NF-1) and a MPNST located in the lumbar region. The mass was resecated but surgical margins weren't clear. Recurrence of disease was observed after few months. A close monitoring of subjects with NF-1 is crucial to diagnose MPNST at an earlier stage and allow a complete surgical resection.

Cor triatriatum dexter: a rare incidentaloma.

Cor triatriatum dexter (CTD) is an extremely rare finding resulting from the persistence of the right valve of sinus venosus. It is a congenital cardiac anomaly defined by an abnormal septation of the atrium leading to inflow obstruction to the respective ventricle. Multimodal diagnostic modalities are necessary to characterize it for an optimal patient management. We report the case of a 68-year-old woman who presented to our clinic for further feedback of ventricular ectopic beats.

Wunderlich syndrome: a rare case in a young woman.

We report the case of a 29-year-old woman with Wunderlich syndrome, a rare spontaneous renal hemorrhage into the subcapsular and perinephric space. She presented to our emergency department with a sudden and persistent right flank pain in the abscence of abdominal injury. The onset of the symptoms can be insidious and lead to hypovolemic shock. Computed Tomography helps both in the diagnosis, detecting the renal hemorrhage, and contributes to an optimal patient management. Selective arterial embolisation is an efficient technique to stop acute and potential life-threatening hemorrhage and preserve the renal parenchyma.