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Neuroradiologie Scan 2013; 03(04): 285-298
DOI: 10.1055/s-0032-1326504
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© Georg Thieme Verlag KG Stuttgart · New York

Kraniospinale Anomalien und neurologische Komplikationen bei Osteogenesis imperfecta: Bildgebung im Überblick[1]

Craniospinal abnormalities and neurologic complications of Osteogenesis imperfecta: imaging overview
Nader Khandanpour
,
Daniel J.A. Connolly
,
Ashok Raghavan
,
Paul D. Griffiths
,
Nigel Hoggard
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Publication History

Publication Date:
23 September 2013 (online)

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Zusammenfassung

Die Osteogenesis imperfecta ist eine seltene Erbkrankheit mit fortschreitender Knochendeformierung, die pathophysiologisch hauptsächlich auf Störungen der Biosynthese des Kollagens vom Typ I zurückzuführen ist. Außerdem kann eine Reihe assoziierter neurologischer Anomalien auftreten: Üblicherweise ist das Zentralnervensystem beteiligt, weil die Knochenerweichung an der Schädelbasis zu einer Verschiebung der oberen Halswirbelsäule und des Dens axis in die Schädelbasis führt. Die Verschiebung der Wirbelsäule nach oben kann eine Kompression des Hirnstamms, mechanisches Impingement des Spinalkanals mit eingeschränktem Liquorfluss und Impingement der Hirnnerven verursachen. Bei einer direkten Beteiligung neurovaskulärer Strukturen können A.-carotis-Sinus-cavernosus-Fisteln, Dissektion der Halsschlagader und Hirnaneurysmen vorkommen. Häufig ist bei einer Osteogenesis imperfecta auch das Hirnparenchym betroffen; dies kann zu Großhirnatrophie, generalisiertem Hydrozephalus und Hypoplasien des Kleinhirns führen. Die Merkmale dieser Erkrankung in der Bildgebung sind so vielfältig wie die klinischen Manifestationen und hängen vom Schweregrad der Erkrankung ab. Schwere Formen, die mit multiplen Knochenbrüchen und zunehmenden neurologischen Störungen einhergehen, können zum perinatalen Kindstod führen, während leichtere, asymptomatische Formen nur eine etwas verkürzte Lebensdauer zur Folge haben. Der wichtigste Fortschritt in der Behandlung der Osteogenesis imperfecta war die Einführung der Bisphosphonattherapie, mit der die Knochenresorption bei Patienten verlangsamt wird, die unter einer mittelgradigen bis schweren Form der Erkrankung (Typ III oder IV) leiden. Bei einigen Patienten kann ein neurochirurgischer Eingriff zur Korrektur einer schweren basilären Invagination durch den Dens axis erforderlich sein.

Abstract

Osteogenesis imperfecta is a rare genetic disorder that leads to progressive skeletal deformities due to deficits in type I collagen, the main pathophysiologic effect of the disease. In addition, it may lead to a wide range of associated neurologic abnormalities: The central nervous system is usually involved because of softening of bone at the base of the skull, with resultant upward migration of the upper cervical spine and odontoid process into the skull base. Upward migration of the spine may cause compression of the brainstem, mechanical impingement of the spinal canal with restriction of cerebrospinal fluid circulation, and impingement of the cranial nerves. Osteogenesis imperfecta also may directly involve neurovascular structures, leading to cavernous fistulas of the carotid artery, dissection of the cervical arteries, and cerebral aneurysms. The brain parenchyma is frequently affected by the disease, with manifestations including cerebral atrophy, communicating hydrocephalus, and cerebellar hypoplasia. The imaging features of the disorder vary as widely as its clinical manifestations, depending on the severity of disease. Severe forms accompanied by debilitating skeletal fractures and progressive neurologic impairments may lead to perinatal death, whereas milder asymptomatic forms might cause only a modest reduction in life span. The most important advance in medical therapy for osteogenesis imperfecta has been the introduction of bisphosphonate therapy to slow the resorption of bone in patients with moderate to severe forms of the disease (ie, type III or IV). In some patients, neurosurgery may be necessary to correct the effects of severe basilar invagination by the odontoid process.

1 © 2012 The Radiological Society of North America. All rights reserved. Originally puplished in English in RadioGraphics 2012; 32: 2101 – 2112. Online published in 10.1148/rg.327125716. Translated and reprinted with permission of RSNA. RSNA is not responsible for any inaccuracy or error arising from the translation from English to German.


 

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