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Generalized Arterial Calcification of Infancy 2

Idiopathic Infantile Arterial Calcification


Presentation

  • Le Boulanger G et al. (2010) An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. [ ] 3.[moldiag.com]
  • We describe a newborn with IIAC who presented with PPHN and cardiac failure. Case presentation A male neonate, 36 5 weeks gestation, 2.81 kg, was admitted at birth to neonatal intensive care unit (NICU) for respiratory distress.[bmcpediatr.biomedcentral.com]
  • Case Presentation A multigravida with previous two normal issues was referred at 36 weeks of gestation, as the screening ultrasound revealed cardiomegaly.[austinpublishinggroup.com]
  • "Idiopathic Infantile Arterial Calcification: The Spectrum of Clinical Presentations". Pediatric and Developmental Pathology. 11 (5): 405–15. doi : 10.2350/07-06-0297.1. PMID 17990935.[en.wikipedia.org]
  • Unlike GACI, ACDC presents later in life and is not fatal. Arterial calcifications in ACDC are associated with the enzyme TNAP (tissue-nonspecific alkaline phosphatase).[medicalbag.com]
Death in Childhood
  • View Article PubMed PubMed Central Google Scholar Guimaraes S, Lopes JM, Oliveira JB, Santos A: Idiopathic infantile arterial calcification: a rare cause of sudden unexpected death in childhood.[bmcpediatr.biomedcentral.com]
  • […] during childhood, apparently owing to disruption of the trophic influences that inhibit vascular-cell calcification.[nejm.org]
Plethora
  • […] hematopoiesis of liver [19] Hypertrophy of myocardium Bright and hyper-reflective myocardium [20] Periarticular calcifications in the wrists, ears, shoulders, ankles and hip [21] [22] Heart usually looks structurally normal Cardiomegaly and pulmonary plethora[en.wikipedia.org]
Hunting
  • Hunt, A. C.; Leys, D. G. (1957). "Generalized Arterial Calcification of Infancy". BMJ. 1 (5015): 385–6. doi : 10.1136/bmj.1.5015.385. PMC 1974337. PMID 13396267. Thiaville, A.; Smets, A.; Clercx, A.; Perlmutter, N. (1994).[en.wikipedia.org]
Arachnodactyly
  • الصفحة 896 - Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. N Engl J Med 1992;326:905-909. ‏[books.google.com]
Pansystolic Murmur
  • At one hour of age, he was noted to be pale, hypoperfused, with weak pulses, a hyperdynamic precordium and a grade IV/VI pansystolic murmur. The rest of his examination was normal. A chest X-ray showed massive cardiomegaly and pulmonary oedema.[bmcpediatr.biomedcentral.com]
Ectopia Lentis
  • الصفحة 896 - Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. N Engl J Med 1992;326:905-909. ‏[books.google.com]

Workup

  • The infant died at the age of 7 weeks of cardiac failure and the parents were referred to Molecular Biology and Cytogenetic lab for further workup.[old.jcdronline.org]
  • ., evidence of autosomal recessive hypophosphatemic rickets) Metabolic workup including serum creatinine, serum phosphorus, urine phosphorus, urine creatinine, and alkaline phosphatase to evaluate for evidence of hypophosphatemic rickets by measuring[ncbi.nlm.nih.gov]
Ventricular Hypertrophy
  • Echocardiography showed left ventricular hypertrophy and low contractility, but normal aortic arch dimensions.[bone-abstracts.org]
  • Repeated ECHO examinations showed normal systemic and pulmonary venous drainage, thickened semilunar and tricuspid valve leaflets, and concentric left ventricular hypertrophy. An ECG was negative for ischaemic changes.[bmcpediatr.biomedcentral.com]
  • hypertrophy and multiple intracardiac as well as vascular calcifications [6] Idiopathic arterial calcification of infancy should be suspected when there is hyperechogenicity of vessel walls, evidence of polyhydramnios or a past history of early neonatal[en.wikipedia.org]
  • The older child has hypertension and left ventricular hypertrophy with impaired function, while the younger child quickly developed a comatose state. The final diagnosis is made after performing histological examination.[medun.acad.bg]
  • hypertrophy or ischemia Echocardiogram to monitor left ventricular systolic function and to assess for the presence of calcifications, left ventricular hypertrophy, or pericardial effusion CT of the chest, abdomen and pelvis (if possible with runoff[ncbi.nlm.nih.gov]

Treatment

  • Treatment with bisphosphonates, which are synthetic PP(i) analogues, has been proposed as a means of reducing arterial calcifications in GACI patients, but no formalized treatment approach exists.[unboundmedicine.com]
  • Reports in the literature suggest resolution of arterial calcification with Editronate (Biphosphonate sodium) treatment [ 8, 18 ].[bmcpediatr.biomedcentral.com]
  • "Generalized arterial calcification of infancy: Treatment with bisphosphonates".[en.wikipedia.org]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Treatment: There is no effective or specific treatment for GACI.[iofbonehealth.org]

Prognosis

  • Prenatal diagnosis has been reported in fewer than 10 cases and represent a severe form with worse prognosis [2]. The case reported here presented with cardiomegaly and pericardial effusion at 36 weeks of gestation.[austinpublishinggroup.com]
  • Prognosis Prognosis is poor; most infants die from myocardial infarction within the first year of life, with the greatest number of deaths occurring within the first six months.[orpha.net]
  • Due to the unfavourable prognosis of GACI, a prenatal diagnosis by molecular genetic testing was performed during the following pregnancy with negative result.[thieme-connect.com]
  • […] possible therapeutic alternative for babies with idiopathic arterial calcification complicated by severe hypertension refractory to conventional treatment. [37] Infants must reach a certain weight to allow for a transplant, commonly not reached. [38] Prognosis[en.wikipedia.org]
  • Thus, given the poor prognosis of severe GACI, affected patients might die of the cardiovascular complications of the disease before they develop typical signs of PXE.[frontiersin.org]

Etiology

  • The exact etiology of IAC is not known. An autosomal recessive inheritance pattern has been described.[ijri.org]
  • Conclusion : GACI might be one of the possible etiologies of hydrops fetalis.[thieme-connect.com]
  • A rare cardiovascular disease of uncertain etiology. Case report and review of the literature Monatsschr Kinderheilkd, 140 (1992), pp. 27-33 [12.] D. Carles, F. Serville, J.P. Dubecq, E.M. Alberti, J. Horovitz, W.[analesdepediatria.org]
  • An echocardiogram (ECHO) indicated moderate persistent pulmonary hypertension (PPHN) of unclear etiology. A diagnosis of Idiopathic infantile arterial calcification was made and a trial of Editronate therapy was given without success.[bmcpediatr.biomedcentral.com]

Epidemiology

  • Petrova Department of Epidemiology, Medical University – Sofia Summary . The purpose of this study is to present epidemiological characteristics of nosocomial outbreaks of airborne diseases in Bulgaria.[medun.acad.bg]
  • Summary Epidemiology Approximately 300 cases have been reported worldwide in the medical literature. The prevalence is unknown; however, based on carrier frequency of the recognized pathogenic variants, the frequency of 1/566,000 has been suggested.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • It can therefore be hypothesized that the pathophysiology of ENPP1 and ABCC6 related disorders is based on common downstream mechanisms.[frontiersin.org]

Prevention

  • Vitamin D was also given to prevent Editronate induced vitamin D deficiency. No resolution of calcification was seen in the serial radio-imaging studies.[bmcpediatr.biomedcentral.com]
  • Recently, a study on animal model has described that bisphosphonate treatment may be beneficial by a dual effect for preventing ectopic soft tissue mineralization while correcting decreased bone mineralization in GACI caused by ENPP1 mutations.[iofbonehealth.org]
  • Alternatively, a lack of functioning MRP6 may impair the transport of a substance that would normally prevent mineralization, leading to the abnormal accumulation of calcium characteristic of GACI .[ghr.nlm.nih.gov]
  • […] calcification of infancy should be suspected when there is hyperechogenicity of vessel walls, evidence of polyhydramnios or a past history of early neonatal deaths. [24] DNA testing can identify one of the mutations responsible for the condition [25] Prevention[en.wikipedia.org]
  • Calcium phosphate crystal formation was prevented in cells transduced with a CD73-encoding lentiviral vector but not control vector expressing β-galactosidase.[nejm.org]

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