Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spacesSinnige, P. F., van Rauenswaaij-Arts, C. M. A., Caruso, P., Lin, A. E., Boon, M., Rahikkala, E., Callewaert, B. & Meiners, L. C., Nov-2017, In : European Journal of Paediatric Neurology. 21, 6, p. 912-920 9 p.
Research output: Contribution to journal › Article › Academic › peer-review
The autosomal dominant progeroid form of cutis laxa is a recently identified multiple congenital anomaly disorder characterized by thin, wrinkled skin, a progeroid appearance, intra-uterine growth retardation, postnatal growth restriction, psychomotor develop mental delay, microcephaly, cataract, hypotonia and contractures. De novo heterozygous mutations in ALDH18A1 have been described in this condition. We present neuroimaging abnormalities in three patients. One patient had intracranial arterial and venous tortuosity, widened ventricular and extra-axial cerebrospinal fluid (CSF) spaces, wide perivascular spaces and increased T2 signal intensity in the cerebral white matter over time. The second patient had vascular tortuosity. The third patient had prominent ventricular and extra-axial cerebrospinal fluid (CSF) spaces on CT. We propose an embryological mechanism for the development of intracranial vascular tortuosity and discuss the anatomical basis of wide perivascular spaces in relation to this syndrome. Although we do not know the clinical implications of these cerebral vascular anomalies, we suggest inclusion of neuroimaging in the baseline evaluation of these patients.
|Number of pages||9|
|Journal||European Journal of Paediatric Neurology|
|Early online date||18-Jul-2017|
|Publication status||Published - Nov-2017|
- Cutis laxa syndrome, ALDH18A1, MRI, Vascular tortuosity, Perivascular spaces, VIRCHOW-ROBIN SPACES, ENCODING DELTA(1)-PYRROLINE-5-CARBOXYLATE SYNTHASE, PROGEROID FEATURES, MENKES DISEASE, BLOOD-VESSELS, PIA MATER, BRAIN, P5CS, DISORDERS, CHILDHOOD