(347KB)Sundaram S1, Kuruvilla S2,
Thirupuram S3. Idiopathic arterial calcification of infancy
- a case report. Images Paediatr Cardiol 2004;18:6-12
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(347KB) |
Sundaram S1, Kuruvilla S2,
Thirupuram S3. Idiopathic arterial calcification of infancy
- a case report. Images Paediatr Cardiol 2004;18:6-12
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1 Department of Pathology and Neonatology, Porur, Chennai-600116, India |
| 2 Sri Ramachandra Medical College and Research Institute |
Article
Introducton
Calcification of the heart and vessel in fetuses is an extremely rare
entity. It may be dystrophic or metastatic. Idiopathic arterial calcification
of infancy(IAIC) is an unusual genetically inherited autosomal recessive
condition characterized by extensive arterial calcification and stenosis
of large and medium sized arteries.1,2 Pathologically, these
calcific deposits are seen along the internal elastic membrane of arteries
accompanied by fibrous thickening of the intima resulting in luminal narrowing.3
It may also be complicated by severe systemic hypertension and cardiomyopathy.4
Accurate diagnosis is important since follow up with genetic counseling
is mandatory. We report here an autopsy case of IACI, associated with a
cytogenetic abnormality, which has not been reported so far in literature.
Patient
A ten day old female baby developed sudden shortness of breath and
was treated with oxygen and antibiotics, for presumed sepsis. She was the
third child of a second-degree consanguineous marriage, born at full term
by normal delivery. Antenatal echocardiography had revealed calcification
of the aorta and pulmonary artery. In spite of active resuscitation, she
died of cardio-respiratory arrest. Family history revealed that the mother’s
first female baby, full term normal delivery died at forty-two days of
age. Her second male baby died at eleven days of age in a similar manner.
No further investigations were done in both the cases.
Autopsy on this patient showed significant changes, predominantly in
the major arteries of the following organs: heart, lungs, kidneys, stomach,
intestine, liver and spleen. Macroscopically, the aortic wall appeared
thickened, rope-like and the lumen appeared narrow .The pulmonary arteries
were dilated and there was a gritty sensation in the vessel walls of both
the arteries. Histological examination revealed extensive calcification
mainly along the internal elastic lamina of the aorta (figure 1) and the
pulmonary arteries (figure 2).
Specks of calcification were also seen in the coronaries (figure 3),
bronchial arteries (figure 4) and branches of the gastric arteries (figure
5).
Both kidneys showed calcification in the tubules, glomeruli (figure
6) and in the vessels. The lungs showed focal intra alveolar hemorrhage,
large areas of infarction and evidence of aspiration pneumonia. The liver
showed extramedullary haematopoiesis and hyperplasia of blood vessels.
Placenta showed extensive calcification, intervillous haemorrhage and focal
narrowing of vessels.
In view of family history gross and histopathological findings and cytogenetic abnormality a diagnosis of idiopathic arterial calcification of infancy was considered.
Discussion
Idiopathic arterial calcification of infancy represents a clinical
spectrum which is associated with calcification of large and medium sized
blood vessels and is of unknown etiology.5 One study describes
IAIC fundamentally as a defect of the elastic fibres with calcification
occurring particularly in the internal elastic lamina. Materials with the
staining properties of mucopolysaccarides accumulate around the elastic
fibers. This is followed by fine calcium encrustation of the lamina. Later
the lamina ruptures and occlusive changes occur in the intima.6 Death
from myocardial infarction usually occurs during the first 6 months of
life.7 One of the two sibs reported by Anderson et al had an
extensive acute panarteritis suggesting that idiopathic arterial calcification
of infancy may be the result of an inflammatory or infectious process.
Ultrastructural examination confirmed that the deposits were hydroxyapatite
and in addition contained iron deposits.8 Recent studies by
Rutsch F et al (2001) showed that inorganic pyrophosphate (Ppi) inhibits
hydroxyapatite deposition and mice deficient in the Ppi generating nucleoside
triphosphate pyrophosphohydrolase plasma cell membrane glycoprotein-1 develop
periarticular and arterial calcification in early life. In idiopathic arterial
calcification of infancy hydroxyapatite deposition and smooth muscle cell
proliferation occur sometimes in association with periarticular calcification.9
Two infants with idiopathic arterial calcification of infancy presented
with severe systemic hypertension refractory to therapy. Radiographic examination
revealed calcification of major vessels. 10 Van Dyck et al described
an infant in whom the diagnosis was made at the age of two weeks and therapy
with diphosphonate resulted in complete resolution of the vascular calcification.
At the age of two years the child was doing well, but required medical
treatment for arterial hypertension.11
In our case, the family history, radiographic picture, clinical presentation and post mortem finding of extensive calcification in major arteries and medium sized arteries of various organs, enabled a diagnosis of idiopathic arterial calcification of infancy. Since the inheritance is autosomal recessive, consanguinity as seen in this case increases the risk of developing the disease. The diagnosis is essential for genetic counseling and for screening of siblings at risk for developing the disease.
Although survival to adulthood has been reported by Sholler et al12 in 1984, most patients die withen the first 6 months of life .The present case is being documented for its rarity and its association with a karyotypic abnormality of 47 chromosomes.
Conclusion
Since antenatal diagnosis is possible, 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 deaths.
This case was rare in its association with a karyotypic abnormality of
47 chromosomes.
References
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