The syndrome of absence of the septum pellucidum with porencephalies and other developmental defects

Neuropediatrics
J Aicardi, F Goutières

Abstract

Four children with a complex brain malformation including absence of the septum pellucidum and porencephalies are reported. All patients presented with congenital hemiplegia or diplegia and mild to severe mental retardation. Ocular motor palsy and epilepsy were additional findings in two children. The diagnosis was made by pneumoencephalography (two patients), by CT scan (one patient) or by both techniques ((one patient). The neuroradiological images, especially those obtained by CT scan, are described. Previously reported cases with pathological confirmation are reviewed and compared with the present cases. The nosological situation of this syndrome is discussed in relation with holoprosencephaly and septo-optic dysplasia. We conclude that absence of the septum with porencephaly is a distinct and clinically recognizable syndrome.

Citations

Jan 1, 1984·Clinical Neurology and Neurosurgery·P G Barth
Jul 1, 1996·Journal of Neurology, Neurosurgery, and Psychiatry·G SébireP Landrieu
Mar 13, 2014·AJNR. American Journal of Neuroradiology·S A NabavizadehA Vossough
Jan 1, 1986·Acta Neuropathologica·A M Strefling, H Urich
Jan 1, 1983·Neuroradiology·C Raybaud
Jan 1, 1986·Brain & Development·N ShimozawaA Sugitani
Jan 1, 1984·Brain & Development·L M SmitC Njiokiktjien
Jan 1, 1988·Acta Paediatrica Scandinavica. Supplement·P Uvebrant
May 1, 1985·American Journal of Medical Genetics·S L Blethen, V V Weldon
Nov 5, 1999·Radiologic Clinics of North America·L L Barr
Mar 6, 2003·Neurologic Clinics·Gary D Clark
Jul 1, 1986·Journal of Child Neurology·R M Shuman, R W Leech
Jul 1, 1986·Journal of Child Neurology·R Ouvrier, F Billson
Jan 1, 1986·Journal of Child Neurology·R W Leech, R M Shuman
Apr 24, 2010·The American Journal of Surgical Pathology·Richard A Prayson
Jan 1, 1989·Pediatric Radiology·K C KubanJ Wallman
Feb 1, 1987·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·P G Barth
Jul 28, 2004·Brain & Development·Gary D Clark

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