Ileal Schwannoma: A Rare Cause of Pelvic Mass.

The incidence of small bowel schwannomas is extremely low. In the current literature, we found just a few reported small intestine schwannomas that were located in the duodenum, jejunum, or ileum. This study reports a surprising finding of a relatively large size ileal schwannoma in a patient whose preoperative magnetic resonance imaging described a tumour in the lesser pelvis probably derived from the right adnexa. Pfannenstiel incision was made by the gynaecology team, which found a large mass lesion arising from the small intestine and occupying nearly the entire lesser pelvis. The general surgeon was invited, and pathology was successfully managed by segmental resection of the small bowel with primary end-to-end anastomosis. The histopathology study reported a submucosal tumour composed of S-100 protein-positive spindle cells, and the diagnosis of ileal schwannoma was made. The possibility of intestinal neoplasms, including schwannomas, might be contemplated in the differential diagnosis of any pelvic mass lesions. A detailed histology study and immunohistochemical stain are required for the final diagnosis of intestinal schwannomas and to rule out malignant changes, which are extremely important for the further management of patients. To the best knowledge, our case is one of the biggest intestinal schwannomas reported in the current literature.

Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies.

Miyoshi myopathy/dysferlinopathy (MMD) is a rare muscle disease caused by DYSF gene mutations. Apart from skeletal muscles, DYSF is also expressed in the brain. However, the impact of MMD-causing DYSF variants on brain structure and function remains unexplored. To investigate this, we utilized magnetic resonance (MR) modalities (MR volumetry and 31P MR spectroscopy) in a family with seven children, four of whom have the illness. The MMD siblings showed distinct differences from healthy controls: (1) a significant (p < 0.001) right-sided volume asymmetry (+ 232 mm3) of the inferior lateral ventricles; and (2) a significant (p < 0.001) decrease in [Mg2+], along with a modified energy metabolism profile and altered membrane turnover in the hippocampus and motor and premotor cortices. The patients' [Mg2+], energy metabolism, and membrane turnover measures returned to those of healthy relatives after a month of 400 mg/day magnesium supplementation. This work is the first to describe anatomical and functional abnormalities characteristic of neurodegeneration in the MMD brain. Therefore, we call for further examination of brain functions in larger cohorts of MMD patients and testing of magnesium supplementation, which has proven to be an effective corrective approach in our study.