Fatal Outcome of Two Siblings with Idiopathic Arterial Calcification of Infancy Diagnosed In Utero

Idiopathic arterial calcification of infancy (IACI) is a rare condition characterized by extensive arterial calcification and stenoses of large and medium-sized arteries. Its complications include severe cardiac failure diagnosed in utero as hydrops fetalis or postnatally as respiratory failure combined with cardiomegaly. Two newborn male siblings with IACI are described. In utero, echocardiography revealed poor ventricular function and hyperechogenic foci in arterial walls. Both had fatal outcome during the newborn period. At autopsy, medial calcifications in the walls of great arteries, in coronary arteries, in glomeruli, and in subendocardium were detected. In addition, an inflammatory process in the shoulder joint was determined to be large periarticular tissue calcifications. Because of an autosomal recessive inheritance pattern of IACI, fetal echocardiography is recommended in future pregnancies of all affected families.     

Calcified meconium balls in a newborn: an unusual case with imperforate anus,rectourinary fistula,colpocephaly, and agenesis of corpus callosum

Calcified intraluminal meconium is a rare finding in newborn infants. It is often associated with communication between the urinary and gastrointestinal tracts. Intra-abdominal calcifications are unusual radiographic findings in the newborn and can easily be misinterpreted as meconium peritonitis. We report on a newborn infant with anorectal malformation, meconium balls, intraluminal calcifications, colpocephaly, and agenesis of the corpus callosum, a rare association.     

Fetal ascites owing to congenital cytomegalovirus: response to ganciclovir

A term newborn with severe congenital cytomegalovirus (CMV) infection is described. Fetal ascites was detected at 28 weeks gestation, and at birth there was tense ascites. There was intra-uterine growth retardation, microcephaly, chorioretinitis, jaundice, purpura and pneumonitis. Computed tomographic scan of the brain showed ventriculomegaly with periventricular calcifications. Serology was positive for cytomegalovirus-specific immunoglobulin M, and cytomegalovirus DNA was detected in the ascitic fluid and urine by nested polymerase chain reaction. He received 6 weeks of treatment with ganciclovir. Ascites resolved spontaneously and liver function tests became normal. Although there was a good clinical response to ganciclovir therapy without any side-effects, on follow-up the infant had global developmental delay and bilateral sensorineural deafness.     

An unusual cause of cardiac failure in a neonate

We report the case of a newborn admitted with signs of congestive cardiac failure with prominent and pulsatile cervical veins. Echocardiography showed a structurally normal heart, right-to-left ductal flow, and reversed diastolic flow in the proximal descending aorta. A computed-tomography scan of the head showed a vein of Galen arteriovenous malformation. This highlights the importance of considering an intracranial cause in the differential diagnosis of neonatal congestive heart failure.     

Some rare causes of intracranial calcification in childhood: computed tomographic findings

The CT findings in 36 cases of childhood intracranial calcification were analysed. Tuberous sclerosis was the commonest disease, predisposing to calcifications that were essentially nodular in type and bilaterally periventricular in distribution. Calcifications were also noted in other common diseases such as tuberculoma and osteopetrosis, and after meningitis. There were three cases of osteopetrosis with intracranial calcifications: one had calcifications in the peritentorial region and two in the junction regions between the grey and white matters with basal ganglia. These observations were previously unreported. The presence of basal ganglia calcification in Down syndrome is also reported. Most calcifications were not visualized on plain radiographs. Our study shows that if the CT attenuation values are less than 200 Hounsfield units (HU), the calcifications are not visualized on the plain radiographs.     

Osteopetrosis: Brain ultrasound and computed tomography findings

A case of osteopetrosis presenting with rare features of dysmorphism with proptosis due to hypoplasia of the orbits and the temporal bone is described. The case also had calcifications in the periventricular regions, the falx cerebri and the corpora colliculi. These features and sonographic findings of osteopetrosis have not been reported previously. The sensitivity and specificity of imaging modalities in the diagnosis of intracranial calcifications is discussed.     

Cardiac rhabdomyoma in tuberous sclerosis. A report of five cases and review of the literature]

Five children with tuberous sclerosis (TS), a polysystemic disease, had cardiac tumors detected by B-mode echocardiography. In a fetus, sonography performed at the eighth month showed the presence of a cardiac mass and of polycystic kidneys: the diagnosis of TS was confirmed postnatally because of the presence of calcified cerebral nodules. A newborn dichorial twin had paroxysmal tachycardia at ten days. B-mode echocardiography showed the presence of seven intracardiac tumors, and cerebral CT the presence of multifocal periventricular calcifications. An absence in a nine month old baby prompted an electrocardiogram that proved abnormal; a B-mode echocardiography showed large apical cardiac tumor; again cerebral CT showed periventricular calcified nodules. Two girls, 9 and 10 y.o. respectively, affected by TS, with normal electrocardiograms, both presented a small, asymptomatic, intracardiac mass demonstrated sonographically. In recent years, prenatal sonography and B-mode echocardiography in patients with TS demonstrated with increasing frequency the association of cardiac tumors (rhabdomyomas) with TS. Tumor detection often precedes the appearance of the cutaneous and neurological signs typical of the disease. This paper emphasizes the role of echocardiography in detecting cardiac tumors, as an early sign for the diagnosis of tuberous sclerosis, and to depict the natural history of cardiac rhabdomyoma with its variable clinical presentation and prognosis.     

Ultrasonographic Findings in Periventricular Leukomalacia in the Newborn: Two Cases Associated with Early Onset Group B Streptococcal Sepsis

The ultrasonographic findings in periventricular leukomalacia (PVL) in the newborn are described, and the relationship between PVL and group B streptococcal (GBS) infection is discussed. Two newborn infants (one preterm and one term) suffered from early onset GBS sepsis with shock; they showed increased echogenicity in the periventricular regions; one of them developed cystic changes. These findings might be due to decreased perfusion of the periventricular end arterial zone. It is suggested that serial ultrasonography should be performed in neonates who suffer hypoxic-ischemic brain injury.     

Subcutaneous fat necrosis of the newborn: hypercalcaemia with hepatic and atrial myocardial calcification

Subcutaneous fat necrosis of the newborn (SCFN) is a very rare disorder, which can be complicated by hypercalcaemia and thrombocytopenia. The case is presented of an infant with SCFN and symptomatic hypercalcaemia, who developed calcifications in the liver, the inferior vena cava, and the atrial septum of the heart. The hypercalcaemia was treated with hyperhydration, frusemide, glucocorticoids, and a diet low in calcium and vitamin D. Clinical features, diagnosis, complications, and treatment of this rare condition are discussed.     

Cerebral arteriovenous malformation diagnosis by two-dimensional color-coded Doppler ultrasonography of the head

Summary Two-dimensional color-coded Doppler examination revealed a cranial arteriovenous (AV) malformation in a critically ill newborn with intractable congestive heart failure. This case emphasizes the value of color-coded Doppler in the diagnosis of this rare malformation.     

Intraabdominal calcifications in the newborn: An unusual case with anorectal malformation and other anomalies

Intraabdominal calcifications are an unusual radiographic finding in the newborn and can easily be misinterpreted as meconium peritonitis. The authors refer to a patient with anorectal malformation (ARM), intraluminal calcifications and other anomalies. Careful differentiation of the type of intraabdominal calcifications can suggest the possibility of other initially unsuspected anomalies.     

Congestive heart failure in a newborn infant with arteriovenous malformation of the vein of Galen: diagnosis using color-coded Doppler image echography

Arteriovenous malformations of the vein of Galen are rare disorders that may appear in the newborn period with severe congestive heart failure mimicking many intrinsic cardiac defects. Using combined two-dimensional ultrasound and color-coded blood flow mapping arterio-venous aneurysm of the vein of Galen and congenital atrial septal defect could be diagnosed in an newborn with congestive heart failure. In addition to the presented clinical value of the new two-dimensional color Doppler echography physiological aspects of intracranial arteriovenous fistula in infancy discussed.     

Élastopathie calcifiante artérielle diffuse. À propos d’un cas

Diffuse arterial calcified elastopathy is a very rare and little known hereditary disease, characterized by diffuse calcifications of the arterial wall. It seems common in North Africa and in the Caucasian region. Its incidence appears to be underestimated in Morocco. Clinical pattern is dominated by renovascular hypertension often associated with symptoms of heart failure. Risk of sudden death from myocardial infarction is particularly important. Thus, the diagnosis of diffuse arterial calcified elastopathy must always be suspected in front of an apparently unexplained heart failure or renovascular hypertension occurring in an infant. We report a case of diffuse arterial calcified elastopathy discovered in a neonatal intensive care unit, during management of a cardiogenic shock in a 3-months old infant. This observation demonstrates the importance of systematic measurement of the arterial tension, family screening and the impact of the ultrasound in the detection of vascular calcifications. Treatment remains essentially symptomatic.     

Calcification of the heart: a rare manifestation of chronic renal failure

A case is presented in which chronic renal failure led to intense visceral calcification, mainly to the lungs and heart. The discovery of cardiac calcifications on plain chest radiographs is exceedingly rare in renal patients. Punctate calcific deposits with an almost homogeneous distribution throughout the cardiac muscle were the main feature of this case.     

Idiopathic infantile arterial calcification: Roentgen diagnosis of a rare cause of coronary artery occlusion

Infantile arterial calcification is a rare disorder of unknown etiology which is usually generalized and leads to death from coronary artery occlusion. The involved arteries show calcification of the internal elastic lamina and marked intimal proliferation. Vascular calcifications were demonstrated radiographically in 9 previously recorded cases. Three new patients are reported who presented with congestive heart failure. The visualization of faint vascular calcifications in the extra-thoracic soft tissues presented an opportunity to establish the diagnosis radiologically.Presented at the Annual Meeting of the Society for Pediatric Radiology, Washington, D. C. — October 1972.     

An Infant Case of Dilated Cardiomyopathy Associated With Congenital Cytomegalovirus Infection

A 2-month-old infant with congestive heart failure was referred to the authors' hospital. Echocardiography exhibited a dilated left ventricle (LV), poor LV systolic function, and intraventricular thrombus. Laboratory data showed a normal creatinine phosphokinase level and negative troponin T test results. The congestive heart failure was managed using a beta-blocker, an angiotensin receptor blocker, and diuretics. Head computed tomography performed during the treatment course showed periventricular calcifications. Congenital cytomegalovirus infection was subsequently diagnosed. Fetal echocardiography performed during pregnancy showed impaired LV function, suggesting that the cardiomyopathy was associated with cytomegalovirus infection in utero.     

Vein of Galen malformation in a newborn infant with clinical symptoms of a cardiologic emergency

We report on the management of one term newborn infant with a malformation of the Vena Galeni. The baby suffered from cyanosis and intractable congestive heart failure without evidence of congenital heart malformation at his second day of life. The diagnosis was established by two-dimensional sonography and Doppler examination. However, we thought it necessary additionally to perform an angiography of the intracerebral vessels before surgical intervention. We conclude that a real time two-dimensional imaging system and a range-gated pulsed Doppler velocimeter should be available in newborn intensive care units. Otherwise neonatologists are forced to transport these infants to pediatric heart centers because of inability to detect such an extracardiac origin of heart and circulatory failure.     

Multiple atresias with extensive intraluminal calcifications in a newborn with cystic fibrosis

A newborn patient with cystic fibrosis and multiple intestinal atresias demonstrated intraluminal calcifications on a plain abdominal radiograph. Cystic fibrosis may be an aetiological factor for intraluminal calcifications secondary to multiple intestinal atresias. Received: 9 July 1997 Accepted: 13 October 1997     

A neonate with high-outflow congestive heart failure and pulmonary hypertension due to an intracranial arteriovenous malformation

Congestive heart failure in the newborn period is uncommon and is most commonly related to congenital structural heart disease. However, the differential diagnosis is broad and includes arrhythmias, congenital or acquired myopathies, sepsis, severe anemia, or other conditions leading to high-output cardiac failure. Here we report on a 4-day-old girl with high-output heart failure due to a congenital cerebral arteriovenous malformation.     

CEREBRAL ARTERIOVENOUS FISTULA AND FATAL HEART FAILURE IN THE NEWBORN: A CASE REPORT*

Congestive heart failure in children usually occurs in the early months of life and is most often caused by congenital heart disease. This case report of a newborn infant illustrates a rare cause which proved rapidly fatal. It is re-affirmed that examination of an infant with heart failure should include auscultation of the skull for murmurs produced by arteriovenous malformations.