Abstract
We present three cases of Raine syndrome occurring in siblings of consanguineous parents. Raine syndrome is characterised by generalised osteosclerosis with craniofacial anomalies and intracranial calcifications. So far, only nine cases have been reported, and no evaluation of the distribution and extent of the cerebral mineralisations, as well as their impact on the surrounding tissue, has been undertaken yet. In our cases, calcifications were unevenly distributed throughout the central nervous system, not associated with neuronal loss or dystrophic events and appeared mostly as single calcospherites within the neuropil with occasional confluent deposits at advanced gestational age. There was intense perifocal microgliosis around single immature calcospherites, as well as mild astrogliosis around and within the confluent lesions, in which occasional macrophages could be found. Rarely, mineralisations occurred in blood-vessel walls, mainly affecting basal ganglia. Preferential sites of calcification were parietal and occipital periventricular white matter and corpus callosum, while frontal lobes were mildly affected. The cortex, temporal lobes as well as internal capsule, brain stem, cerebellum, leptomeninges, pituitary gland a...Continue Reading
Citations
Nov 16, 2010·Pediatric Radiology·Mériam KoobJean-Louis Dietemann
Oct 24, 2003·Psychiatry Research·Manuel F Casanova, Julio M Araque
Oct 18, 2003·Clinical Dysmorphology·Georg HülskampHelga Rehder
Jul 16, 2014·European Journal of Medical Genetics·Víctor FaundesBarry Chioza
Aug 22, 2009·AJNR. American Journal of Neuroradiology·F G GonçalvesR E Figueroa
Jan 18, 2013·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Silje Hjorth RafaelsenRobert Bjerknes
Sep 29, 2011·La Tunisie médicale·Siala Soumaya GaigiNaima Khrouf
Jan 18, 2018·American Journal of Medical Genetics. Part a·Kei TamaiMisao Kageyama
Nov 15, 2007·American Journal of Medical Genetics. Part a·David ChitayatSheila Unger
May 13, 2018·BMC Medical Genetics·Jayesh ShethDhairya Pancholi
Aug 3, 2006·Journal of Forensic Sciences·Manfred Oechmichen, Christoph Meissner
Aug 25, 2020·Prenatal Diagnosis·Sara H El-DessoukyGhada M H Abdel-Salam
Nov 20, 2016·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Michael P WhyteSteven Mumm
Feb 26, 2020·Genes·Araceli Hernández-ZavalaCarmen Palacios-Reyes
Aug 8, 2021·International Journal of Molecular Sciences·Icela Palma-LaraCarmen Palacios-Reyes