Astrocytic tumors are primary central nervous system tumors. They are the most common tumors arising from glial cells. In the new WHO classification 2021, adult-type diffuse astrocytic gliomas subdivide into isocitrate dehydrogenase (IDH)-mutant astrocytoma, IDH-mutant and 1p/19q-codeleted oligodendroglioma, and IDH-wildtype glioblastoma. The T2-fluid-attenuated inversion recovery (FLAIR) mismatch sign describes the MRI appearance of IDH-mutant astrocytoma, it is considered a highly specific radiogenomic signature for diffuse astrocytoma, as opposed to other lower-grade. MRI is the first and most accurate diagnostic tool for low-grade gliomas (LGGs). It is particularly helpful in distinguishing a diffuse astrocytoma from an oligodendroglioma that will not demonstrate T2-FLAIR mismatch. The tumor displays a hyperintense signal on T2-weighted images and a hypointense signal on T2-weighted FLAIR images, which distinguishes it from other types of diffuse gliomas. We report a case of a 29-year-old female patient who was diagnosed with IDH-mutant 1p/19q-non-codeleted diffuse astrocytoma based on MRI T-2 FLAIR mismatch sign, which is confirmed by the molecular analysis in the pathology lab. Our aim of this report is to confirm the power of the MRI findings in the diagnosis of glioma genotypes and to assess neurosurgeons in the preoperative surgical planning.
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neurodegenerative genetic disorder caused by mutations in the DCAF17 gene. It primarily manifests with endocrinological symptoms such as hypogonadism, failure to develop secondary sexual characteristics, diabetes, and hypotrichosis. Neurological manifestations include intellectual disabilities, dystonia, dysarthria, and hearing loss.This paper describes the cases of two Saudi Arabian sisters, aged 37 and 36, who were born to first-degree consanguineous parents. They had normal growth and development except for certain intellectual disabilities. However, they were presented with primary amenorrhea and no secondary sexual characteristics at puberty, and they were subsequently diagnosed with WSS. The first patient presented with dysmorphic features, dysarthria, tremors, and dystonia. The second patient presented with hypotrichosis, predominantly affecting the temporo-occipital regions, and cerebellar signs on physical exam. Both patients had hair thinning and bilateral sensorineural hearing loss. Brain MRI of both patients showed increased iron deposition in the basal ganglia and multiple faint T2-FLAIR (fluid-attenuated inversion recovery) hyperintensity foci involving the centrum semiovale, corona radiata, and peritrigonal white matter bilaterally. MRI abdomen of the second patient revealed early hepatic fibrosis, with diffuse moderate to severe hepatic steatosis reaching a fat fraction of 19%, and increased intensity of the splenic vein with multiple collaterals. Further research is needed to achieve a better understanding of this syndrome to improve patient care and outcomes.
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