globotriaosylceramide and Brain-Diseases

Fabry disease (FD) is a rare X-linked lysosomal storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs.. Being X-chromosomal-linked, most studies in the past have focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and thus need to be treated, respectively.. This review wants to give a systematical overview of the typical organ involvement in female patients with FD. Moreover, therapy recommendations especially for female patients are discussed.

Topics: Adult; alpha-Galactosidase; Brain Diseases; Cardiomyopathies; Fabry Disease; Female; Glycosphingolipids; Humans; Kidney Diseases; Middle Aged; Patient Care Team; Severity of Illness Index; Trihexosylceramides; Young Adult

Shiga toxin (Stx) produced by enterohemorrhagic

Topics: Animals; Brain Diseases; Cytokines; Disease Models, Animal; Enterohemorrhagic Escherichia coli; Escherichia coli Infections; Heat-Shock Response; Hemolytic-Uremic Syndrome; Inflammation; Lipopolysaccharides; Macrophages; Microglia; Rats; Rats, Wistar; Shiga Toxin 2; Trihexosylceramides

Hemolytic uremic syndrome (HUS) and acute encephalopathy caused by enterohemorrhagic Escherichia coli infection occur commonly in children, whereas adult-onset disease is rare. Here we report the case of a 24-year-old woman who developed acute encephalopathy and recovered without sequelae. She initially developed abdominal pain and diarrhea. On day 6, O-157 Shiga toxin was detected in her stool and she developed HUS. On day 11, acute encephalopathy developed and she required artificial ventilation. She was treated with steroid pulse therapy and plasma exchange (PE) and then discharged on day 53 without any sequelae. Globotriaosylceramide, a Shiga toxin receptor, is more frequently present on the cellular membranes of women than on those of men. Therefore, it is conceivable that adult women are at a higher risk of developing acute encephalopathy than men. Steroid pulse therapy and PE may effectively treat acute encephalopathy by reducing inflammatory cytokine levels in the blood; therefore, these treatments should be proactively considered.

Topics: Acute Disease; Antigens, Tumor-Associated, Carbohydrate; Brain Diseases; Enterohemorrhagic Escherichia coli; Escherichia coli Infections; Female; Hemolytic-Uremic Syndrome; Humans; Methylprednisolone; Plasma Exchange; Prednisolone; Pulse Therapy, Drug; Risk; Shiga Toxin; Treatment Outcome; Trihexosylceramides; Young Adult