Generalized Arterial Calcification in Infants

Prior, John T.; Bergstrom, Victor W.

doi:10.1001/archpedi.1948.02030030098011

Cited by 20 publications

(9 citation statements)

References 3 publications

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“…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.…”

Section: Discussionmentioning

confidence: 82%

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

Mulcahy

Mone

McAuliffe

et al. 2019

J Congenit Heart Dis

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Background: Idiopathic infantile arterial calcification (IIAC) is a rare autosomal recessive disorder characterised by extensive calcification and proliferation of the intimal layer of the large and medium size arteries. Case presentation: We report 4 antenatal cases of IIAC in our institution over a 10 year period from 2006 to 2016. Clinical outcomes, prenatal ultrasound findings, radiological and postmortem investigations are summarized. A literature review of this rare autosomal recessive disease is presented. The possible aetiology of this condition and the role of biphosphonates in the management of this condition are discussed. Conclusions: This case series highlights the frequent poor outcome of IIAC, consistent with the literature, the phenotypical variability of the disease even within the same family and the role of biphosphonates in one prenatally diagnosed case. Hyperechogenicity of the fetal vasculature detected on prenatal ultrasound particularly if there is a history of IIAC in an index pregnancy may aid earlier prenatal diagnosis. A multidisciplinary approach to parental counselling can then occur in order to optimise a plan of care in the neonatal period.

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Section: Discussionmentioning

confidence: 82%

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

Mulcahy

Mone

McAuliffe

et al. 2019

J Congenit Heart Dis

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“…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, ).…”

Section: Discussionmentioning

confidence: 99%

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

Staretz‐Chacham

Shukrun

Barel

et al. 2019

American J of Med Genetics Pt A

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Generalized arterial calcifications of infancy (GACI) is caused by mutations in ENPP1.Other ENPP1-related phenotypes include pseudoxanthoma elasticum, hypophosphatemic rickets, and Cole disease. We studied four children from two Bedouin consanguineous families who presented with severe clinical phenotype including thrombocytopenia, hypoglycemia, hepatic, and neurologic manifestations. Initial working diagnosis included congenital infection; however, patients remained without a definitive diagnosis despite extensive workup. Consequently, we investigated a potential genetic etiology. Whole exome sequencing (WES) was performed for affected children and their parents. Following the identification of a novel mutation in the ENPP1 gene, we characterized this novel multisystemic presentation and revised relevant imaging studies. Using WES, we identified a novel homozygous mutation (c.556G > C; p.Gly186Arg) in ENPP1 which affects a highly conserved protein domain (somatomedin B2). ENPP1-associated genetic diseases exhibit phenotypic heterogeneity depending on mutation type and location. Follow-up clinical characterization of these families allowed us to revise and detect new features of systemic calcifications, which established the diagnosis of GACI, expanding the Orna Staretz-Chacham and Rachel Shukrun contributed equally to this study.

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“…It is also recognized that despite extensive extracranial vessel involvement involving aorta, renal, mesenteric, and carotid arteries, sparing of the cerebral arteries is usual [Maayan et al, 1984]. There are two reports in the literature of cerebral artery involvement [Prior and Bergstrom, 1948;Sholler et al, 1984] and van der Sluis et al [2006] reported striatal and basal ganglia calcification despite unaffected medium and large cerebral arteries. There is potential for cerebral ischemia or thromboembolism secondary to cerebral vessel insufficiency or thrombus formation complicating extracranial carotid artery stenosis [Marrott et al, 1984;Van Dyck et al, 1989;Thomas et al, 1990].…”

Section: Discussionmentioning

confidence: 99%

Generalized arterial calcification of infancy: Phenotypic spectrum among three siblings including one case without obvious arterial calcifications

Dlamini

Splitt

Durkan

et al. 2009

American J of Med Genetics Pt A

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Generalized arterial calcification of infancy (GACI) (OMIM no. 208000) is characterized by calcification of the major arteries and soft tissues and associated with mutations in the ENPP1 gene. Most affected patients die within the first 6 months of life although prolonged survival is increasingly recognized. We report on three siblings with GACI and striking phenotypic variability. Two siblings (including the sibling survivor) were compound heterozygotes for mutations in exon 7 (c.783C>G (p.Y261X)) and exon 8 (c. 878_879delAA (p.K293fsX5)) of the ENPP1 gene confirming the diagnosis of GACI. The sibling survivor did not have calcification on X-ray studies or evidence of hypophosphatemic rickets. GACI may be under recognized and we emphasize consideration of this condition in patients with multiple arterial stenosis even in the absence of radiographic calcification. This adds to the expanding phenotype of GACI and supports a potential role for modifying genes.

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Generalized Arterial Calcification in Infants

Cited by 20 publications

References 3 publications

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

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

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

Generalized arterial calcification of infancy: Phenotypic spectrum among three siblings including one case without obvious arterial calcifications

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