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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]

Background: Hirschsprung disease [HD] is a predominantly childhood disorder of intestinal motility with a multifactorial and polygenic etiology. The objective of this study was to document the clinical and pathological features of HD in Kuwait, which has an estimated consanguinity rate of 54%. Methods: We analyzed all rectal and colonic biopsies (n=268) for suspected HD identified from the records in the Pathology Department of Al-Sabah Hospital for the period between 1994 and 2004. Results: One hundred and two patients (87 males and 15 females) had histologically confirmed HD. Fifty-eight (57%) were neonates (< 1 month of age), while 21% were more than 4 months old. The diagnosis was based on open biopsy in 11 cases and rectal biopsies in 91 cases. Nine patients with open biopsies presented as intestinal obstruction, necrotizing enterocolitis, or perforation. The extent of the disease was unknown in 13 patients. There were 67 males and 3 females with short segment HD. Nine had long segment, two ultra-short segment and eight total colonic aganglionosis (TCA). Five TCA cases involved the small intestine. A skip area was observed in two cases. Six patients had other anomalies. A positive family history for HD was established in three patients. Two of these were male siblings from a consanguineous marriage and had Waardenburg syndrome. Conclusion: This study has highlighted an exceptionally strong male predominance of short segment and a relatively high frequency (5.6%) of small intestinal involvement in HD in Kuwait. These data call for a more detailed epidemiological study with special emphasis on genetics.

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]

Inflammatory demyelinating pseudotumor (IDP) is a rare inflammatory lesion of unknown etiology, which presents as a space-occupying lesion but responds dramatically to steroid therapy. The objective of this report is to document 2 cases of IDP seen in Kuwait. Two female patients, aged 35 and 27 years presented with the clinical and radiological features of a space-occupying lesion. Radiological investigations showed partial ring-enhancing lesions with insignificant mass effect, which were multiple in patient one, and single in patient 2. Biopsies in each patient showed features of a demyelinating disorder. Both patients remarkably improved clinically on steroid therapy. The report highlights the need for an early and correct diagnosis of IDP for therapeutic purposes.