PMC10447982_01
Brain MRI. (A,I,M,Q) Multiple round hypointense lesions on T1 in the corpus callosum. (B,F,J,N,R) Multiple round hyperintense lesions on T2 in the corpus callosum. (C,K,O,S) Multiple round hyperintense lesions on FLAIR located in the corpus callosum. (D,L,P,T) Multiple hyperintense lesions on DWI located in the corpus callosum. (E) Multiple hyperintense lesions on contrast-enhanced MR located in the corpus callosum. (G,H) The macular capillary was dilated and there is fluorescein leaking from the dilated blood vessels. Areas of hyperintensity or hypointensity are denoted by the white arrows.
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An MRI scan of the head revealed multiple round hypointense lesions on T1-weighted imaging (T1WI) (Figure 1A) and hyperintense lesions on T2WI/fluid-attenuated inversion recovery (FLAIR) analysis (Figures 1B,C,F) in the genu and splenium of the corpus callosum. On diffusion-weighted imaging (DWI) (Figure 1D), multiple round hyperintense lesions were found to be located in the genu and splenium of the corpus callosum. T1WI and hyperintense lesions on T2WI in the genu and splenium of the corpus callosum; no lesion enhancements were found (Figure 1E). The patient's electroencephalogram demonstrated paroxysmal short-range (5-7 Hz) slow waves in the eye-closed resting state. Fundus fluorescein angiography (FFA) of the (left and right) eyes (Figures 1G,H) demonstrated the presence of a dilated macular capillary and fluorescein leakage from dilated blood vessels. T2WI/FLAIR/DWI (Figures 1J-L) in the genu and splenium of the corpus callosum; no significant changes were observed in the lesions, and the patient had fully recovered, except for a slightly impaired memory. Treatment was continued with oral methylprednisolone, and the dosage was gradually decreased. Three months after the patient's discharge from the hospital, his brain MRI findings remained unchanged relative to the diagnostic MRI findings (Figures 1M-P), but the patient had no disease symptoms or signs at this time. The findings of his brain MRI (Figures 1Q-T) and contrast-enhanced MRI remained unchanged from his initial admittance. A skin biopsy was performed via light microscopy (3DHistech) on samples obtained above the patient's ankle and thigh; hematoxylin and eosin staining revealed eosinophilic spherical inclusion bodies within some sweat gland epithelial cell nuclei (Supplementary Figure S1).
(A) Electropherograms showing GC-rich regions using PCR and repeat-primed PCR assays in affected individuals (a) and positive control subjects (b). (B) GC-rich PCR showed the patient had 101 GGC repeats in the 5' UTR of NOTCH2NLC (c); GC-rich PCR showed the GGC repeats in the 5' UTR of NOTCH2NLC in positive control subjects (d).
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We observed a 101 GGC (guanine, guanine, cytosine) repeat in the 5'-untranslated (5'UTR) region of the NOTCH2NLC gene [normal range < 40 ] [Figures 2B(c)].
The timeline of the patient's course of disease.
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