Search

Keywords: adult onset; Alexander disease; GFAP mutation; inflammation EN adult onset Alexander disease GFAP mutation inflammation 1 5 5 09/01/23 20230801 NES 230801 Key points We describe the B NM 002055.5 I (GFAP): c.592C>T (p. Arg198Trp) i b variant as a novel adult-onset Alexander disease (AxD)-associated pathogenic variant in two unrelated patients. The florid inflammatory infiltrate including B cells and plasma cells observed in the tissue sample from the medulla of the first patient is a hitherto unreported finding in AxD human cases and animal models. A sagittal diameter of the medulla oblongata <9.0 mm, medulla oblongata/midbrain <0.60 and sagittal medulla oblongata/pons <0.46 showed high sensitivity and specificity, suggesting that these parameters promote the accuracy of diagnosing AxD, even when a I GFAP i gene test is not available [[10]]. Quantitative evaluation of brain stem atrophy using magnetic resonance imaging in adult patients with Alexander disease. [Extracted from the article]

Lymphoma of a dural genesis is a distinct variant of primary central nervous system lymphoma and is rare. It putatively has a more benign clinical course. Cranial primary dural lymphoma is more often marginal zone Bcell lymphoma, whereas spinal primary dural lymphoma is most commonly diffuse large B-cell lymphoma. We report a male patient who presented with subacute progressive radiculopathy due to a compressive infiltrative lumbosacral spinal lesion. This was determined to be primary dural diffuse large B-cell lymphoma. The radiology, therapeutic considerations and differentiating biological characteristics of primary dural lymphoma, differ from other primary central nervous system lymphomas. Primary dural lymphoma is under-represented in the medical literature. It has unique clinical characteristics. The optimal treatment algorithm remains undefined, but there is some evidence suggesting a benefit of surgical cytoreductive therapy in the first instance, and low-dose radiotherapy may be an effective adjuvant therapy in addition to chemotherapeutic and immunotherapeutic agents. [ABSTRACT FROM AUTHOR]

Introduction: Papillary Thyroid cancer (PTC) is the most common malignancy encountered by endocrine surgeons accounting for up to 85% to 90% of all thyroid malignancies. Parathyroid metastases appear to be an uncommon phenomenon however are likely to be underdiagnosed due to routine parathyroid gland preservation during thyroidectomy. Case: We present the case of 63-year-old lady with PTC metastases to the parathyroid gland. She underwent total thyroidectomy, central compartment lymph node dissection and selective left neck (levels IIA-IV) lymph node dissection. Final pathology confirmed a 45 mm low grade conventional type papillary carcinoma with microscopic extension into perithyroidal soft tissue focally and into the adjacent left parathyroid gland. Conclusion: Parathyroid gland thyroid cancer infiltration/metastasis is rarely reported and likely underdiagnosed. This is the first case of parathyroid gland metastasis reported from New Zealand or Australia to our knowledge. There is currently limited research available to guide whether parathyroid gland infiltration or metastasis is of clinical or prognostic significance and whether a more aggressive treatment strategy is warranted when present. [ABSTRACT FROM AUTHOR]