Abstract:The authors encourage the combined interpretation of these features in the herein proposed approach that confidently predicted the final diagnosis in this particular group of disorders associated with ATL cysts.
“…For example, bilateral cysts in the temporal lobes, where the CSA is located, or midline cavities such as cavum septum pellucidum and cystic lesions, have been reported in several neurodevelopmental disorders. 92 , 93 Our study demonstrates key roles of MG and Spp1 in maintaining tissue integrity, suggesting that such lesions may also result from a loss of physiological functions of MG during crucial stages of morphogenesis.…”
“…For example, bilateral cysts in the temporal lobes, where the CSA is located, or midline cavities such as cavum septum pellucidum and cystic lesions, have been reported in several neurodevelopmental disorders. 92 , 93 Our study demonstrates key roles of MG and Spp1 in maintaining tissue integrity, suggesting that such lesions may also result from a loss of physiological functions of MG during crucial stages of morphogenesis.…”
“…Anterior temporal lobe cysts have been well-described as a hallmark of some congenital diseases and genetic leukoencephalopathies. 14 We hypothesize that the observed findings may represent the effect of significant vasogenic edema within structures that are normally characterized by an increased free-water content (the deep white matter) and a more delayed myelination compared with other lobes. 15 This hypothesis could also possibly explain why the FLAIR sequence, which is sensitive to both T1-and T2relaxation times, may be particularly sensitive to demonstrate the double cap sign by inverting the CSF-like signal within edematous myelinating regions, with higher free-water content in the frontal lobes with partial sparing of myelinated fibers of the forceps minor and the periventricular bright line, normally described on FLAIR images before complete myelination.…”
Galactosemia is a rare genetic condition caused by mutation of enzymes involved in galactose and glucose metabolism.The varying clinical spectrum reflects the genetic complexity of this entity manifesting as acute neonatal toxicity syndrome, requiring prompt diagnosis and treatment, to more insidious clinical scenarios as observed in the subacute and chronic presentations. The current literature predominantly focuses on the long-standing sequelae of this disease. The purpose of this multicenter clinical report comprising 17 patients with galactosemia is to highlight the MR imaging patterns encompassing the whole spectrum of galactosemia, emphasizing the 3 main clinical subtypes: 1) acute neonatal presentation, with predominant white matter edema; 2) subacute clinical onset with a new finding called the "double cap sign"; and 3) a chronic phase of the disease with heterogeneous imaging findings. The knowledge of these different patterns together with MR spectroscopy and the clinical presentation may help in prioritizing galactosemia over other neonatal metabolic diseases and prevent possible complications.
“…MLC diagnosis was based on MRI findings (Figures 1 and 2). The absence of cerebellar abnormalities in this case is useful to rule out congenital muscular dystrophy in patient with macrocephaly 1 . MLC is associated with MCL1 gene mutation in 70% of the cases 2 , leading to disbalanced intracelullar ion concentration and astrogliosis 3,4 .…”
Figure 1. (A), Axial T1-weighted image shows diffuse cerebral white-matter abnormalities with frontoparietal subcortical cysts (arrows). (B), Axial FLAIR image exhibits subcortical cysts (arrows) in the anterior temporal lobe intermingled with diffuse whitematter hyperintensity. (C) and (D), Axial T2-weighted images with diffuse white-matter abnormalities, the external and extreme capsules are involved and the posterior limb of the internal capsule shows a double-line of abnormal intensity (arrows in D). (E), Coronal T2-weighted image highlights a diffuse brain swelling with white-matter hyperintensity and persistence of the cavum septum pellucidum (arrow). (F), Sagittal T1-weighted image with fat suppression and after endovenous gadolinium contrast, note the cranio-facial disproportion without abnormal enhancement. The corpus callosum is relatively spared.
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