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Idiopathic infantile arterial calcification

Andrea Borromini, Giorgio Rossi, Paola Maggi, Daniele Speciale, Gianpaolo Mirri, Anna Cogliardi, Claudia Addis, Emanuele Dainese, Emanuela Bonoldi, Alessandro Marando
A Turkish female infant of 96 days was admitted to the pediatric emergency room because of inconsolable crying, persistent cough, and difficulty in feeding during the previous day. She was conscious and did not show any signs or symptoms of multiorgan failure. A few minutes afterwards, the child experienced cardiac arrest with an initial cardiac rhythm of asystole and died 75 minutes later following cardiopulmonary resuscitation maneuvers. As the pathological cause of death, autopsy findings revealed a rare type of idiopathic infantile arterial calcification resulting from a mutation in the gene encoding for the ENPP1 enzyme...
March 2016: Giornale Italiano di Cardiologia
Halil Gursoy Pala, Gokmen Bilgili, Burcu Artunc Ulkumen, Fatos Alkan, Senol Coskun
No abstract text is available yet for this article.
July 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Scott R Granter, Alvaro C Laga, Allison R Larson
OBJECTIVES: We illustrate the important and troubling issue of persistent misinformation and false claims in the medical literature using a frequently cited case inaccurately believed by many to be the first case of calciphylaxis. METHODS: We identified a recurring error in the medical literature in the form of numerous citations of a study from the 1890s of a 6-month-old child with idiopathic infantile arterial calcification that is purported to be the first description of a case of calciphylaxis...
September 2015: American Journal of Clinical Pathology
Xiaobi Liang, Shaoying Zeng, Yufen Li, Wei Pan, Zhiwei Zhang
No abstract text is available yet for this article.
November 2014: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
A Nael, P J Siaghani, D Chen, S G Romansky, L Shane
Idiopathic Infantile Arterial Calcification is a rare autosome recessive disease characterized by extensive calcification of medium and large arteries. Loss-of-function mutations in ectonucleotide pyrophosphatase/phosphodiesterase 1 gene have been described in more than 80% of the cases. Although the diagnosis is usually made at autopsy, it is possible to identify cases based on clinical presentation, radiology findings, and molecular studies. Appropriate treatment can be initiated and has been shown to successfully induce permanent remission...
2014: Case Reports in Pathology
Vesna Stojanovic, Aleksandra Doronjski, Gordana Milak, Nenad Barisic
Idiopathic infantile arterial calcification (IIAC) is a rare autosomal recessive disease usually diagnosed postmortem. The clinical presentation is not typical, but usually implies refractory hypertension and cardiorespiratory failure. We present a case of a newborn with IIAC who had fetal hydrops and refractory hypertension which normalized soon after initialization of peritoneal dialysis. With this case report, we wanted to highlight that peritoneal dialysis may be beneficial an effective therapeutic option for patients with IIAC and severe refractory hypertension...
December 2013: Fetal and Pediatric Pathology
Huma Shaireen, Alexandra Howlett, Harish Amin, Kamran Yusuf, Majeeda Kamaluddeen, Abhay Lodha
BACKGROUND: Idiopathic infantile arterial calcification (IIAC) is a rare autosomal recessive disorder, characterized by wide spread calcifications in arterial walls, leading to vaso-occlusive ischaemia of multiple organs. Mortality is high, and there is no definitive treatment. CASE PRESENTATION: A male neonate, 36+5 weeks gestation, 2.81 kg, was admitted to NICU for respiratory distress. 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...
2013: BMC Pediatrics
Resul Yılmaz, Ahmet Afşin Kundak, Taner Sezer, Samet Özer, Haluk Esmeray, Nafia Özlem Kazancı
Calcium metabolism disturbances are common in childhood. In infancy, hypercalcemia generally occurs due to hyperparathyroidism, familial hypocalciuric hypercalcemia, subcutaneous fat necrosis, total parenteral nutrition administration, hyperthyroidism, and adrenal insufficiency. Granulomatous disorders such as tuberculosis and sarcoidosis are rarer cause of hypercalcemia. Hypercalcemia outcomes including nephrocalcinosis, brain, eye, artery calcifications and encephalopathic features are life-threatening. We report a seven-month-old girl with miliary tuberculosis who presented with severe hypercalcemia...
2013: Tüberküloz Ve Toraks
M Haas, S M Niehues
No abstract text is available yet for this article.
December 2011: RöFo: Fortschritte Auf Dem Gebiete der Röntgenstrahlen und der Nuklearmedizin
Edwin Zhang, Richard Owen, Garth Bruce, Sheldon Wiebe
We report an unusual case of chronic mesenteric ischemia presenting in a 12-year-old girl with idiopathic infantile arterial calcinosis (IIAC). This is the first reported case in the literature of chronic mesenteric ischemia in the setting of IIAC. The girl presented with a classical history of postprandial abdominal pain. Imaging demonstrated significant stenoses of the celiac axis, superior mesenteric artery (SMA) and inferior mesenteric artery (IMA). Angioplasty of the celiac axis and SMA was attempted, with successful dilation of the SMA only...
November 2011: Pediatric Radiology
Susana Guimarães, José Manuel Lopes, José Bessa Oliveira, Agostinho Santos
Unexpected child death investigation is a difficult area of forensic practice in view of the wide range of possible genetic, congenital, and acquired natural and nonnatural causes. Idiopathic infantile arterial calcification (IIAC) is a rare autosomic recessive disease usually diagnosed postmortem. Inactivating mutations of the ENPP1 gene were described in 80% of the cases with IIAC. We report a case of a 5-year-old girl submitted to a forensic autopsy due to sudden death and possible medical negligence/parents child abuse...
2010: Pathology Research International
Hephzibah Rani, Ravikala Rao, Usha Rao, Udupi Dinesh, Batchu Ramamurthy
Idiopathic Infantile Arterial Calcification (IIAC) is a rare syndrome of unknown cause characterized by disruption and calcification of the internal elastic laminae of fetal arteries with calcium deposits leading to fibrosis and occlusion of the arteries. The diagnosis is often made at post-mortem examination. However, in a few cases it has been detected prenatally as in this case. Fewer than 10 cases of antenatal detection of this condition have been reported in the literature. In our case, thrombotic microangiopathy was an added feature, which has not been reported thus far in the literature to the best of our knowledge...
2010: Fetal and Pediatric Pathology
Margaret M Samyn, David Bick, John A Humphrey, Kimberly L Gandy
We present the first case report of successful cardiac surgery in a child with idiopathic infantile arterial calcification (IIAC), a disease that is generally lethal within the first 6 months of life. This 27-month-old Hispanic American boy with IIAC successfully underwent cardiothoracic surgery for severe pulmonary valve (PV) stenosis after unsuccessful balloon valvotomy in the cardiac catheterization laboratory.
October 2010: Pediatric Cardiology
Lindsay M Ryerson, Roberto Chiletti, Margaret Zacharin, James Tibballs
We present the clinical course and management of two infants with idiopathic infantile arterial calcification. Both had coronary artery involvement and presented with ischaemic cardiac failure. Neither responded well to conventional therapy with inotropic agents, glyceryl trinitrate, diuretic and mechanical ventilation, nor to short-term biphosphonates. One was treated with levosimendan and extracorporeal membrane oxygenation to no avail.
December 2010: Journal of Paediatrics and Child Health
A Cansu, A Ahmetoglu, M Mutlu, S Guven, M A Osmanagaoglu
Idiopathic infantile arterial calcification (IIAC) is a rare disease of unknown etiology, which is characterized by arterial calcification. A 29-year-old primigravida at 33 weeks' gestation was referred for further evaluation for polyhydramniosis. An ultrasonographic examination revealed an intrauterine growth restricted fetus, pericardial effusion, increased renal cortical echogenicity with sparing of corticomedullary differentiation, and diffuse arterial calcifications involving the aorta, pulmonary artery, common iliac arteries, renal arteries, and common carotid arteries...
2010: Clinical and Experimental Obstetrics & Gynecology
Cara C Heuser, Michael Puchalski, Anne Kennedy, Nikhil Sangle, Tracy Manuck, Robert Andres
BACKGROUND: Idiopathic infantile arterial calcification is a rare disorder that often results in fetal or neonatal demise. Few reports have detailed an early diagnosis, complete antenatal and postnatal imaging, and postmortem findings. CASE: A patient presented at 33 weeks of gestation with hydrops fetalis. Idiopathic infantile arterial calcification was diagnosed using a fetal echocardiogram, and fetal demise occurred shortly thereafter. A complete postmortem evaluation included radiography and pathology...
February 2010: Obstetrics and Gynecology
F K Nasrallah, H Baho, A Sallout, M Qurashi
Idiopathic infantile arterial calcification (IIAC) is a rare and nearly always fatal disorder. To date, prenatal diagnosis has been reported in fewer than 10 cases. We describe a series of three cases in which the diagnosis of IIAC was made at 23, 25 and 29 weeks' gestation. All three cases presented with a normal anatomy scan at 20 weeks' gestation with an echogenic intracardiac focus. Follow-up scans showed generalized hyperechogenicity and calcification of the walls of the large arteries, particularly the aorta and the iliac arteries...
November 2009: Ultrasound in Obstetrics & Gynecology
Shelby Kutty, Joseph R Cava, Michele A Frommelt
No abstract text is available yet for this article.
August 2009: Echocardiography
Zong-de Xie, Jian-fang Gai, Wen Li
No abstract text is available yet for this article.
May 2008: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
G Palmas, R Tumbarello, P Abbruzzese, V Fanos
Idiopathic infantile arterial calcificationI (IIAC) is a rare disorder characterized by calcium deposition in the internal elastica lamina of medium and large arteries and it has been defined in term of molecular genetics. It is usually fatal, approximately 85% of all patients die within the first months of life owing to ischemia of vital organs. Death from myocardial infarction usually occurs in the first 6 months. Calcification in a peripheral artery with electrocardiogram (ECG) changes of occlusive coronary artery disease suggests the diagnosis...
August 2008: Minerva Pediatrica
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