Primäre entzündliche Ursachen zerebraler Ischämie im Kindesalter

Zusammenfassung

Ischämische Hirninfarkte sind im Kindesalter selten, können aber bei den betroffenen Individuen zu irreversiblen Schäden und einer schwerwiegenden Beeinträchtigung der Lebensqualität führen. Ein signifikanter Anteil der Infarkte im Kindesalter geht auf primäre ZNS Vaskulitiden (PACNS) zurück. Zur sicheren Diagnose müssen Differenzialdiagnosen, inklusive Systemerkrankungen die mit Vaskulitis einhergehen können ausgeschlossen werden. In Analogie zur Klassifikation der systemischen Vaskulitis, wird die PACNS nach dem Kaliber der betroffenen Gefäße eingeteilt. Die Diagnose und Einteilung erfolgt anhand der klinischen Präsentation, laborchemischer und bildgebender Untersuchungen, sowie Hirnbiospien im Falle von Kleingefäß ZNS Vaskulitiden. In Ermangelung prospektiver und kontrollierter klinischer Studien orientiert sich das therapeutische Vorgehen derzeit an kleinen Fallserien und Expertenempfehlungen. Die zur Verfügung stehende Medikamententherapie umfasst systemische Antikoagulation, hochdosierte Kortikosteroide und, wenn nötig, Cyclophosphamid zur Remissionsinduktion, sowie Basismedikamente zur Remissionserhaltung. Die Pathophysiologie der PACNS wird aktuell nur sehr inkomplett verstanden. Die Untersuchung und Entdeckung genetischer Ursachen wird jedoch zu einer Neuklassifikation und zielgerichteten und individualisierten Therapieoptionen beitragen. Um dies voranzutreiben sind nicht zuletzt aufgrund der Seltenheit der PACNS im Kindesalter internationale Kooperationen notwendig.

Abstract

Ischemic brain injuries are rare in childhood, but can result in irreversible damage and may significantly impact on the quality of life of affected individuals. A significant proportion of ischemic infarctions are caused by primary angiitis of the CNS (PACNS). To make the diagnosis of PACNS, differential diagnoses, including systemic diseases associated with vasculitis, must be ruled out. In analogy to systemic forms of primary vasculitis, PACNS is classified based on the calibre of affected vessels. Diagnosis and classification are based on clinical presentation, laboratory investigations, imaging, as well as brain biopsies in the case of small vessel vasculitis. Due to a lack of prospective and controlled trials, treatment is currently based on small case series and expert recommendations. Available medicinal options include systemic anticoagulation, high-dose corticosteroids, and, where necessary, cyclophosphamide for remission induction, followed by disease-modifying antirheumatic drugs for maintenance treatment. The pathophysiology of PACNS is very incompletely understood. The investigation and identification of genetic causes will result in an updated classification and new targeted and individualised treatment options. To promote this, international collaborations are necessary to overcome issues caused by the rarity of childhood PACNS.

Schlüsselwörter

Vaskulitis - ZNS - Diagnose - Therapie - Kindesalter

Key words

CNS - vasculitis - diagnosis - treatment - childhood

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