Idiopathic arterial calcification in childhood

Idiopathic arterial calcification in infancy is usually fatal with death in early life and diagnosis at post mortem. This report describes a unique, late presentation with hypertension and cardiac failure in a child aged 33 months, found to have widespread arterial calcification at radiological imaging. The calcium-phosphate axis was normal and there was no other demonstrable cause for calcification. Additionally, the histological features of arterial calcification at renal biopsy paralleled the findings in infants with this disorder. The late presentation in this case is unusual and has not been previously reported. Ultrasound and CT are sensitive for calcification, and the disease should be suspected in children presenting with cardiac or respiratory manifestations and features of arterial calcification, where no metabolic cause is established.     

Intracranial calcification in Raine syndrome: radiological pathological correlation

We report the seventh known patient with Raine syndrome, a recently recognised, lethal sclerosing bone dysplasia associated with severe craniofacial dysmorphism and intracranial calcification in whom the CT findings are correlated with the gross and microscopic abnormalities found in the brain at autopsy. Received: 24 October 1997 Accepted: 20 April 1998     

Generalized Arterial Calcification Associated with Hydramnios in Two Stillborn Infants

Histologic, microradiographic and X-ray crystallographic findings are recorded in two stillborn infants with idiopathic generalized arterial calcification, in one of which there was also nephrocalcinosis. The mineral salt deposits consisted solely of hydroxyapatite and was regarded as metastatic. In both cases there was hydramnios. Since 5 out of 7 known cases of neonatal idiopathic arterial calcification had hydramnios the possibility of a causal connection cannot be ruled out.     

Periventricular band of increased echogenicity: edema or calcification?

This paper illustrates the cases of two infants with an identical appearance of a periventricular band (PVB) of increased echogenicity on cranial sonography, shown on CT to be due to edema in one and calcification in the other. Such a PVB due to edema has not been reported previously, and its similarity to calcification on sonography is emphasized. Received: 7 July 1997 Accepted: 15 September 1997     

Adrenal calcification: an incidental finding or not?

When the adrenal gland is calcified but no mass is found, the calcification is usually assumed to be due to prior adrenal hemorrhage. We report a case of adrenal calcification without a noncalcified mass in a child who subsequently presented with neuroblastoma elsewhere. This case has implications for the investigation of children with adrenal calcification. Received: 30 August 1996 Accepted: 11 March 1997     

Idiopathic infantile arterial calcification: Unusual features

Idiopathic infantile arterial calcification (IIAC) is a rare disease of unknown etiology, which causes wide-spread arterial calcification and usually leads to early death from coronary arterial occlusion. Periarticular calcification has been reported in some cases. Two new cases are reported. In addition to the usual features of the disease, one was found to have ear-lobe calcification and the other an aortic aneurysm and coarctation of the aorta. Therapy with diphosphonate was apparently successful in one patient.     

Idiopathic arterial calcification of infancy: prenatal and postnatal effects of therapy in an infant.

In an infant with idiopathic arterial calcification of infancy, prenatal diagnosis of arterial calcification was made by ultrasonography and allowed initiation of therapy in utero. Etidronate therapy produced apparent radiographic and ultrasonographic improvement in the degree of vascular calcification but did not prevent the lethal progression of intimal vascular occlusive disease.     

Disseminated arterial calcification associated with acardius acephalus.

Widespread arterial calcification was shown at necropsy in an infant who died at age 5 days and whose twin was acardiac. The changes resembled closely those described in idiopathic arterial calcification of infancy and the possible importance of haemodynamic factors in the production of these changes is discussed.     

Idiopathic Arterial Calcification of Infancy: Effectiveness of Prostaglandin Infusion for Treatment of Secondary Hypertension Refractory to Conventional Therapy: Case Report

A premature baby had severe hypertension associated with idiopathic arterial calcification of infancy. Despite the fact that there was laboratory evidence of renin-mediated hypertension, the disease was refractory to specific renin antagonist and failed to respond to conventional medical treatment. Prostaglandin E₁ (PGE₁) infusion (dosage range 0.017–0.068 μg/kg/min) promptly controlled hypertension on two occasions. The drug was given for a total of 65 days and then stopped after the appearance of severe thrombocytopenia; other side effects included sporadic hyperthermia and irritability. Blood pressure was then stabilized satisfactory by a multiple-antihypertensive regimen. In the light of these findings, we believe that PGE₁ infusion is a possible therapeutic alternative for babies with idiopathic arterial calcification complicated by severe hypertension refractory to conventional treatment.     

Congenital Gaucher disease with nonimmune hydrops/erythroblastosis, infantile arterial calcification, and neonatal hepatitis/fibrosis. Clinicopathologic report with enzymatic and genetic analysis

The findings in a stillborn female fetus of 31 weeks' gestation with congenital Gaucher disease, nonimmune hydrops/erythroblastosis, infantile arterial calcification, and neonatal hepatitis/fibrosis are presented, the first report of this complete constellation. Prior reports describe two similar patients. One lacked the hepatocellular features of giant cell hepatitis although manifesting hepatic fibrosis; the second lacked hepatic pathology. The diagnosis of Gaucher disease herein was established by microscopic examination of the proband, enzymatic analysis of trophoblast, and enzymatic and genetic study of the parents. The father was heterozygous for a recombinant glucocerebrosidase gene; the mother demonstrated a unique frame shift mutation. Thus the fetus is a compound heterozygote for a null and a severe mutation. Studies of parental DNA were negative for the D409H mutation of type IIIc Gaucher disease. Genetic studies were not performed of the ENPP1 gene, mutations of which are associated with idiopathic infantile arterial calcification.     

Massive Myocardial Calcification in the Perinatal Period

Massive myocardial calcification (MMC) in the perinatal period is an unusual finding considered to be a unique tissue reaction. This report summarizes the clinical and pathologic findings of seven cases of perinatal MMC. All patients presented clinical evidence of myocardial damage. In two cases arrhythmia was detected in utero. Four cases presented with hydrops, one of which was associated with major heart malformation. One case was a trisomy 13. Three cases had polyhydramnios. Our results demonstrate that calcification follows progressive stages from patches of calcified myocardial cells (stage I), to coagulative and colliquative myocytolysis with clusters of interstitial mononucleated cells (stage II), to collapsing fibrosis with granulation tissue and multinucleated regenerative myocardial cells (stage III), and finally to fibrous scars containing entrapped remaining myocardial cells (stage IV). Literature review and our findings suggest that perinatal MMC results from different conditions inducing hypoxic–ischemic damage that later is followed by progressive scarring if the patient survives the acute stage. The lesion may represent the human counterpart of the so-called dystrophic cardiac calcinosis in mice. This disease is related to an abnormality at the Dyscalc locus of proximal chromosome 7 (syntenic with human chromosome 19q13 and 11p15). Received June 4, 1997; accepted November 13, 1997.     

Coronary Arterial Calcification in Kawasaki Disease

The purpose of this paper is to describe the clinical characteristics and significance of the coronary arterial calcification due to Kawasaki disease (KD), based on our five patients. The coronary arterial lesions (CAL) were in segments 1, 2, 5, 6 and 11 according to the classification of the American Heart Association. The interval from the onset to the first appearance of coronary calcification was 17 months to 61 months. Progression of CAL into coronary arterial stenosis or myocardial infarction occurred in all five patients. In the comparative study between the patients with calcified CAL and those with non-calcified CAL, the maximal size of CAL of the former was 8 mm or larger in contrast with that of the latter (less than 8 mm). It is concluded that coronary arterial calcification is one of the important signs which suggest the presence of the advanced CAL in the follow-up of children with a history of KD.     

Idiopathic infantile arterial calcification: a case report and review of the literature

Idiopathic infantile arterial calcification (IIAC) was diagnosed radiologically in an infant with sudden onset of heart failure. The clinical picture, radiological, laboratory and postmorten findings, are described in detail. There was no family history and a metabolic abnormality could not be detected.Calcifications of major arteries and particularly ligaments are pathognomonic radiologic signs of this condition but diagnosis of IIAC during life has been established only rarely. The value of early diagnosis is emphasised.     

Hemophilia presenting in an infant as a radial artery pseudoaneurysm following arterial puncture

The case presented is of an infant who developed a radial artery pseudoaneurysm following arterial puncture and was subsequently diagnosed with hemophilia. A discussion of radial artery pseudoaneurysms follows. Received: 3 January 1997 Accepted: 7 April 1997     

Calcified leiomyoma of deep soft tissue in a child

We report the case of a 7-year-old boy with a calcified leiomyoma in the right gluteal muscle. Radiography and CT showed a well-defined soft tissue mass with mulberry-like calcifications that superficially resembled chondroid matrix calcification. The mass exhibited high-signal intensity intermingled with spotty low-signal intensity on T2-weighted MRI which was attributable to extensive non-malignant degeneration of the tumour. Received: 29 September 1997 Accepted: 15 June 1998     

Idiopathic infantile arterial calcification in siblings: radiologic diagnosis and successful treatment.

Idiopathic infantile arterial calcification is a disorder of unknown etiology manifested by widespread arterial calcification. This usually leads to early death from coronary artery occlusion. In 12 of the 75 cases in the literature, radiographs were taken and it was possible to make the diagnosis in them all. We present two patients, siblings, in whom the diagnosis was established radiologically. The nature of the calcium deposits was studied in one of the infants and proved to be calcium hydroxyapatite. Therapy with diphosphonate was apparently successful in the other child.     

Generalized arterial calcification of infancy: two siblings with prolonged survival

In generalized arterial calcification of infancy (OMIM no. 208000), calcification of the media and proliferation of the intima lead to arterial stenoses. Most affected patients present with untreatable arterial hypertension and die within the first months of life. The disease has recently been linked to mutations in ENPP1. We report two siblings with prolonged survival, both of whom carry the compound heterozygous ENPP1 mutations c.913C>A and c.1164+2T>A. In both siblings, spontaneous regression of arterial calcifications occurred, and antihypertensive treatment could be tapered off gradually. In some patients, the natural course of GACI may be more favourable than previously assumed.     

Malignant intraperitoneal neoplasms of childhood

Objective. The purpose of this paper is to review and categorize the CT appearances of primary and secondary intraperitoneal neoplasms in children. Materials and methods. We retrospectively reviewed the CT images of 14 cases of intraperitoneal neoplasms. They were reviewed for bowel wall thickening, mesenteric nodules, ascites, calcification, peritoneal nodules, omental caking, and contrast enhancement. Results. Computed tomography images of 14 cases of intraperitoneal neoplasms were evaluated: rhabdomyosarcoma (5), lymphoma (3), neuroblastoma (2), germ cell tumor (1), mesothelioma (1), Wilms tumor (1), and hepatocellular carcinoma (1). Nodular enhancement was seen in all cases, ascites in most, significant bowel wall thickening only with lymphoma, and calcification only with germ cell tumors. Omental caking was present both with rhabdomyosarcoma and lymphoma. Conclusions. While rare in pediatrics, intraperitoneal neoplasms occur in children, and CT is useful in identifying these peritoneal neoplasms. Received: 7 August 1997 Accepted: 9 December 1997     

Abdominal calcification in cystic fibrosis with meconium ileus: radiologic-pathologic correlation

Background. There is confusion in the radiological literature as to the site of abdominal calcification in cystic fibrosis (CF) with meconium ileus (MI) in neonates. Purpose. To correlate the site of radiographic abdominal calcification with histologic and operative findings. Materials and methods. A review of clinical, radiographic, surgical and histologic data in 58 neonates with CF and MI. Results. Abdominal calcification was identified in 15 (26 %) neonates: on an abdominal radiograph in 8 (13 %), at laparotomy in 3 and histologically in 10 (37 %) of the 27 resected specimens. The radiographic pattern of calcification varied from small specks in three cases to small, better-defined areas in two. In the other three patients, the calcification was more extensive and curvilinear. Histologically, calcification was found to be intramural in ten resected specimens, of which two also had intraluminal and one serosal calcification. The more extensive, curvilinear calcification identified radiographically correlated with histologically proven dystrophic intramural calcification. The less marked flecks or discrete areas of radiographic calcification may represent intramural, serosal or intraluminal calcification. Conclusion. Intramural calcification is common microscopically in CF with MI. Extensive radiographic calcification in these patients is more likely to represent intramural rather than serosal or intraluminal calcification. Received: 3 July 1996 Accepted: 7 October 1996     

Idiopathic infantile arterial calcification with survival to adult life

Summary Moran, in an excellent review [9], defined idiopathic infantile arterial calcification as a rare disorder of undetermined etiology, characterized by deposition of calcific material along the internal elastic membrane of large, medium, and small arteries. Fibrous proliferation in the intima occurs and the arterial lumen is narrowed. The constellation of affected tissues varies but the coronary arteries are almost always involved whereas the arteries of the central nervous system are spared [2]. Death from myocardial infarction usually results within the first six months of life. To date there have been only three survivors [6, 8]. We present the case history of a fourth survivor, a 22-year-old woman who, at the age of three months, was diagnosed as having idiopathic infantile arterial calcification.