Das Zentralnervensystem ist bei den verschiedenen Typen der erblichen Stoffwechselkrankheit
Mukopolysaccharidose in sehr unterschiedlichem Ausmaß beteiligt. Die Folge ist eine
große Variationsbreite an klinischen Manifestationen. Deshalb ist es für den Radiologen
wichtig, die Hauptmanifestationen der Erkrankung im Gehirn zu kennen. Dieser Artikel
gibt anhand diverser Bildbeispiele einen Überblick über die typischen Neuroimaging-Befunde.
Abstract
Mucopolysaccharidosis (MPS) is an inherited metabolic disease and a member of the
group of lysosomal storage disorders. Its hallmark is a deficiency of lysosomal enzymes
involved in the degradation of mucopolysaccharides, also known as glycosaminoglycans
(GAGs). The products of GAG degradation accumulate within lysosomes and in the extracellular
space, thereby interfering with the degradation of other macromolecules. This process
leads to chronic degeneration of cells, which in turn affects multiple organs and
systems. There are seven distinct types of MPS (I, II, III, IV, VI, VII, and IX),
which are divided into subtypes according to the deficient enzyme and the severity
of the clinical picture. Although clinical manifestations vary considerably among
the different types of MPS, the central nervous system (CNS) is characteristically
affected, and magnetic resonance (MR) imaging is the method of choice to evaluate
brain and spinal cord abnormalities. Enlarged perivascular spaces, white matter lesions,
hydrocephalus, brain atrophy, cervical spinal canal stenosis with or without spinal
cord compression and myelopathy, and bone abnormalities in the skull and spine (dysostosis
multiplex) are typical imaging findings described in the literature and reviewed in
this article. The differential diagnosis of MPS is limited because the constellation
of imaging findings is highly suggestive. Thus, radiologists should be aware of its
typical neuroimaging findings so they can recognize cases not yet diagnosed, exclude
other metabolic diseases, monitor CNS findings over time, and assess treatment response.
Schlüsselwörter
Mukopolysaccharidose - klinische Befunde - Neuroimaging
Keywords
mucopolysaccharidosis - clinical manifestations - neuroimaging
