Generalized Arterial Calcification in Infants

Antenatal diagnosis of idiopathic infantile arterial calcification (IIAC): a single centre experience and review of the literature

“…Few articles have reported cerebral artery involvement as in our fourth case and in the recipient twin described above [25]. Calcification of the cerebral arteries has been described in four cases [32][33][34][35], the earliest reported case in 1948 [33]. Glatz et al 2006 [3] described a case of rare focal parenchymal microcalcifications in the area of the corpus striatum, internal capsule and choroid plexus on postmortem.…”

Idiopathic Infantile Arterial Calcification: The Spectrum of Clinical Presentations

“…Numerous studies note the giant cell reaction to the calcification we observe [22,25,32,[38][39][40][41]. In late cases, several authors note revascularization or recanalization of the occluded lumen [22,36,[42][43][44][45].…”

“…In early cases the aorta and hepatic artery were most likely to be reported calcified (63 and 64 reports, respectively), and in late cases the coronary arteries were most frequently reported calcified (73 cases), with 30 cases reporting aortic calcification (Table 3). Although IIAC is not thought to involve calcification of cerebral arteries, this was observed in 7 early [10,[31][32][33][34] and 4 late cases [10,[35][36][37]. Calcification is frequently described as occurring along the internal elastic lamina and media, with fragmentation.…”

Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome

“…The disease is known to affect multiple systems, and therefore would be expected to involve additional organs such as the brain. Thus far, CNS involvement is reported in several cases (Glatz, Pawel, Hsu, Weinberg, & Chrisant, ; van der Sluis, Boot, Vernooij, Meradji, & Kroon, ), presenting strokes (Van Dyck, Proesmans, Van Hollebeke, Marchal, & Moerman, ), recurrent transient ischemic attacks due to cerebrovascular insufficiency (Thomas et al, ), or seizures (Prior & Bergstrom, ), (Galletti et al, ). In addition, cystic encephalomalacia was reported in one individual with mutation of ENPP1 (Galletti et al, ).…”