Endocrinol Diabetes Metab Case Rep
January 2024
Background: Sporadic progressive ataxia and palatal tremor is a rare syndrome characterized by mid- to late-adult-onset symptomatic palatal tremor and slowly progressive cerebellar ataxia. To date, there has been only one autopsy report, which described a novel 4-repeat tauopathy with hypertrophic olivary degeneration and tau-positive inclusions in olivary neurons and dystrophic neuritic processes termed glomeruloid bodies. We report on 2 additional autopsy cases.
View Article and Find Full Text PDFWe describe two brothers with lower facial weakness, highly arched palate, scaphocephaly due to synostosis of the sagittal and metopic sutures, axial hypotonia, proximal muscle weakness, and mild scoliosis. The muscle MRI of the younger sibling revealed a selective pattern of atrophy of the gluteus maximus, adductor magnus and soleus muscles. Muscle biopsy of the younger sibling revealed myofibres with internalized nuclei, myofibrillar disarray, and "corona" fibres.
View Article and Find Full Text PDFSchistosomiasis (also known as bilharzia, bilharziasis, bilharziosis or snail fever) is a human disease syndrome caused by infection from one of several species of parasitic trematodes of the genus Schistosoma. The three main species infecting humans are S haematobium, S japonicum, and S mansoni. S japonicum is most common in the far east, mostly in China and the Philippines.
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