PMC7427051_01
Clinical and radiomorphological characteristics of an aged case of DOORS syndrome. Craniofacial dysmorphism (coarse facies, hypertrichosis, broad nasal bridge, wide mouth, smooth philtrum, slightly hypertrophic gingiva, widely spaced teeth, and large ears) could be observed distinctively (A,B). Brain MRI revealed mild generalized supratentorial and infratentorial atrophy, predominantly affecting the temporal lobes, including moderate hippocampal atrophy [white arrows; (C,D)]. Regarding limb alterations, onychodystrophy, and abnormal fingers and toes with small distal phalanges were detected (E-H). Accordingly, the X-ray assessment demonstrated the presence of a triphalangeal left thumb [white arrow; (I)] and a triphalangeal-like right thumb, but with suspected synostosis of the distal phalanges. A similar synostosis of the distal phalanges could be observed in the fifth fingers [gray arrows indicate these three synostosis; (I,J)]. Regarding the feet, the middle phalanges could not be distinguished and the distal phalanges of the first toes were smaller than normal (K,L). Written informed consent was obtained from the legal guardian of the participant in the study for the publication of photo materials with identifying information.
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PMC7427051_02_fneur-11-00767-g0001.jpg
F1
X-ray images of the limbs (Figures 1I-L) demonstrated a triphalangeal left thumb, and a triphalangeal-like right thumb, albeit with suspected synostosis of the distal phalanges. Brain MRI revealed mild generalized supratentorial and infratentorial atrophy predominantly affecting the temporal lobes, including a moderate hippocampal atrophy (Figures 1C,D).
PMC7427051_02
Clinical and radiomorphological characteristics of an aged case of DOORS syndrome. Craniofacial dysmorphism (coarse facies, hypertrichosis, broad nasal bridge, wide mouth, smooth philtrum, slightly hypertrophic gingiva, widely spaced teeth, and large ears) could be observed distinctively (A,B). Brain MRI revealed mild generalized supratentorial and infratentorial atrophy, predominantly affecting the temporal lobes, including moderate hippocampal atrophy [white arrows; (C,D)]. Regarding limb alterations, onychodystrophy, and abnormal fingers and toes with small distal phalanges were detected (E-H). Accordingly, the X-ray assessment demonstrated the presence of a triphalangeal left thumb [white arrow; (I)] and a triphalangeal-like right thumb, but with suspected synostosis of the distal phalanges. A similar synostosis of the distal phalanges could be observed in the fifth fingers [gray arrows indicate these three synostosis; (I,J)]. Regarding the feet, the middle phalanges could not be distinguished and the distal phalanges of the first toes were smaller than normal (K,L). Written informed consent was obtained from the legal guardian of the participant in the study for the publication of photo materials with identifying information.
fneur-11-00767-g0001.jpg
PMC7427051_02_fneur-11-00767-g0001.jpg
F1
X-ray images of the limbs (Figures 1I-L) demonstrated a triphalangeal left thumb, and a triphalangeal-like right thumb, albeit with suspected synostosis of the distal phalanges. Brain MRI revealed mild generalized supratentorial and infratentorial atrophy predominantly affecting the temporal lobes, including a moderate hippocampal atrophy (Figures 1C,D).
Microscopic postmortem neuropathological alterations of an aged patient with DOORS syndrome. Neurofibrillary tangles, pretangles, neuropil threads, and grains in the hippocampal CA1 area [AT8; (A)]. Tangles and grains in the transentorhinal cortex [p62; (B)]. Tangles and pretangles in the dentate gyrus with oligodendroglial coiled bodies in the white matter [bottom part; AT8; (C)]. Age-related tau-astrogliopathy (ARTAG) in the amygdala with granular-fuzzy astrocytes (upper part) and thorn-shaped astrocytes [lower part; AT8; (D)]. ARTAG in the medulla oblongata with thorn-shaped astrocytes [AT8; (E)].
fneur-11-00767-g0002.jpg
PMC7427051_02_fneur-11-00767-g0002.jpg
F2
The hippocampus and amygdala showed a prominent tau pathology in the form of NFTs (CA1 and entorhinal cortex), pretangles (all hippocampal subregions, dentate gyrus, entorhinal cortex, and inferior temporal gyrus), and neuropil threads and grains (p62-immunopositive; mostly in the entorhinal cortex, CA1, and amygdala), as well as granular/fuzzy astrocytes in the gray matter (highest density in the amygdala), thorn-shaped astrocytes in the white matter in the subependymal (inferior horn of the lateral ventricle) and subpial areas, and oligodendroglial coiled bodies and threads in the white matter (Figures 2A-E).
PMC7427051_03