Marklagerläsionen, junges Alter, weiblich – zur Differenzialdiagnose von Multipler Sklerose und juvenilem Schlaganfall

Zusammenfassung

Die Fabry-Krankheit ist eine X-chromosomal rezessiv vererbte lysosomale Speicherkrankheit, die durch das Fehlen oder das fehlerhafte Arbeiten der α-Galaktosidase A hervorgerufen wird. Es entstehen nicht abbaubare Spaltprodukte (Sphingolipide), die sich u. a. in den Lysosomen der Endothelzellen der Gefäße, der Myozyten oder der Fibroblasten ablagern. Nahezu alle Organe können betroffen sein und mannigfaltige Symptome hervorrufen. Neurologisch manifestiert sich der Morbus Fabry v. a. mit Schlaganfällen und Polyneuropathien, viele Fabry-Patienten beklagen Schmerzen und Schwindel. Die vielgestaltigen, bereits in jungen Jahren auftretenden Symptome können zu Missdeutungen führen, eine fehlerhafte Behandlung kann die Folge sein. Wir stellen zwei Fälle vor, anhand derer die Differentialdiagnose bei subkortikalen Marklagerläsionen bei jungen Patienten in Abgrenzung zu entzündlichen Erkrankungen des zentralen Nervensystems verdeutlicht werden soll.

Abstract

Fabry’s disease is an X-chromosomal linked recessive lysosomal storage disease caused by a deficiency of α-galactosidase A. Accumulation of toxic levels of sphingolipids leads to metabolic dysfunction in various cell types (endothelial cells, myocytes, fibroblasts) and organs thus causing a variety of symptoms. Neurological manifestations include recurrent strokes and polyneuropathy, many patients complain of pain or vertigo. The presentation of these polymorphic symptoms mostly at young age often leads to incorrect diagnosis and mistreatment. Here we report two cases of female patients who both were misdiagnosed and thus mistreated for many years. These case-reports aim in increasing the awareness for Fabry’s disease as a differential diagnosis, especially in young women presenting with white matter lesions.

Schlüsselwörter

Morbus Fabry - Anderson-Fabry-Erkrankung - α-Galaktosidase-A-Mangel

Key words

Fabry’s disease (FD) - Anderson-Fabry disease - α-galactosidase A deficiency

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