Self Stender (operatomato7)

Delay in the diagnosis of PCNSL can lead to a poor prognosis. Visuomotor ataxia should also consider the potential for the corpus callosum in the splenium lesion, including PCNSL, and appropriate imaging and pathological diagnosis with endoscopic biopsy can contribute to a good clinical outcome.The suprarenal retroperitoneum and adrenal gland is a rare site of origin for benign schwannomas which frequently present as larger and more aggressive lesions than schwannomas identified elsewhere. These tumors are often surgically excised. We present a case of an 81-year-old asymptomatic man presenting with an incidental 10 cm left suprarenal retroperitoneal mass identified on CT. The mass was indiscernible from the adrenal gland, demonstrating heterogeneous enhancement with a centrally cystic/necrotic core, and punctate calcifications. Subsequent core needle biopsy demonstrated a benign adrenal schwannoma. The lesion has been managed conservatively with imaging follow up and without complication. DISCUSSION Our review of the literature identifies 121 reported in vivo benign adrenal and suprarenal schwannomas published to date with imaging features available for 90 cases (74%). All cases were encapsulated with the average size measuring over 6.5 cm. Fifteen percent (13/84) of reported lesions measured over 10 cm at presentation. Punctate calcification was present in 50% (26/52) of reporting cases. Nearly 50% (40/86) of cases demonstrate cystic/necrotic appearances on imaging. Despite aggressive appearances, our case demonstrates that biopsy and surveillance may represent a reasonable alternative to surgery in suboptimal surgical candidates.Alzheimer's disease (AD) is the most common cause of dementia with around 50 million people suffering from this disease worldwide. Mutations in the ATP-binding cassette sub-family A member 7 (ABCA7) have been reported to cause susceptibility to AD 9 (OMIM #608907). In this study, we report a novel variant in ABCA7 in a Saudi patient with susceptibility to AD 9 and a strong family history of neurodegenerative disorders, which may be explained by the same variant. learn more We studied a single 57-year-old female patient with typical symptoms of AD supported by MRI findings from a Saudi family with a positive history of a similar disease in multiple individuals. The case study was conducted in King Abdulaziz Medical City in Jeddah, Saudi Arabia. Whole-exome sequencing identified the novel heterozygous variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene, which leads to an amino acid exchange. Furthermore, bioinformatics in silico programs predict a pathogenic effect for this variant. To the best of our knowledge, the variant has not been described in the literature so far as evidenced by a thorough literature review using multiple databases such as Ovid, Medline, EMBASE, ProQuest, Science Direct, Google Scholar, and PubMed. In this article, we reported a middle-aged Saudi woman with a novel variant in ABCA7 who had clinical features of both AD and Parkinson's disease. Given the reported function of this gene, it is most likely that it is etiological and pathological because of the presenting complex neurological disease due to decreased clearance of β-amyloid and α-Synuclein. We illustrate the importance of this interesting gene that could be implicated in several neurodegenerative disorders.Klinefelter syndrome (KS) variants often share common features with classical syndrome but some of these variants present with a distinct phenotype. The incidence of sex chromosome tetrasomy and pentasomy are very less and generally diagnosed after prepubertal age. The early diagnosis of complex and unclassified syndromes and it's correlation with genotype is necessary for personalized treatment as well as genetic counselling of the affected families. We describe clinical presentation, and genetic diagnosis of two cases of variant KS. Our first case, a 4 year old male child presented with generalized tonic-c