PMC6175567_01
Signs observed in the current case.. Notes: (A1, A2) Congenital hyper-flexibility type EDS (red arrows, elbows); (B1, B2) recurrent urticaria and eczema on torso (B1) and hands (B2); (C) MS and MDD-related ventricular enlargement and occipital lobe bending (OLB, blue and white arrows, respectively); OLB is also shown in (G). (D) EDS-related unilateral periventricular heterotopia (PH, red arrow), which supports the patient's dyslexia diagnosis. (E) Red arrow, MS lesions along body and splenum of corpus callosum. They indicate difficulties in coordinating R/L hands and may portend cognitive decline. Yellow arrow - craniopharyngioma (0.9 cm3) comprising papillary (soft, anterior), and adamantinous (hard, posterior) cysts bound by a single epithelium. (F) Yellow arrow, conjoined craniopharyngioma cysts (soft ~2.3 cm3 and hard ~0.5 cm3). At this stage, the tumor pressed against his optic chiasm (thin gray arch above the cyst, blue arrow) and caused bitemporal hemianopsia (bilateral peripheral vision losses). (G) Red arrow, EDS-related nasal cartilage defect. White arrow, OLB. Yellow arrows, single voxel (box) MRS of papillary cyst showing characteristic alkyl fats and hydroxyl resonances at delta  1-2 and 3.5-4.2 ppm, respectively. Other CNS metabolites are not seen in papillary craniopharyngioma tumors. These MR-spectral characteristics are only seen in papillary craniopharyngiomas. Adamantinous cysts do not display MR-spectral resonances. Note, in this case report the corresponding author (NDS) is the patient.. Abbreviations: EDS, Ehlers Danlos Syndrome; MS, multiple sclerosis; MDD, major depressive disorder; OLB, occipital lobe bending; R, right; L, left.
ndt-14-2545Fig1.jpg
PMC6175567_01_ndt-14-2545Fig1.jpg
f1-ndt-14-2545
Ehlers Danlos Syndrome (EDS) (Figure 1A1 and A2). EDS describes > ten connective tissue and enzyme disorders due to mutations in collagen, tenascin, and/or filamin-A gene families. EDS related signs seen in the patient include urticaria (Figure 1B1) and eczema (Figure 1B2); asthma; anemia; major depression (MD) indicated by ventricular enlargement, depression inventories, and occipital lobe bending (OLB) (Figure 1C and G); unilateral periventricular heterotopia (Figure 1D); multiple allergies; nasal cartilage defects (Figure 1G); infections (difficult to resolve); and multiple sclerosis (MS) related corpus callosum lesions that hamper coordination of hands, and may portend cognitive decline (Figure 1E). Figure 1 also displays MRIs of conjoined craniopharyngiomas (Figure 1E and F); and peaks representing fats and hydroxyl compounds in the MR-spectrum of the papillary cyst (MRS, Figure 1G).