M E D I C U S - Shoqata e Mjekëve Shqiptarë të Maqedonisë-Hipokrati

flexion deformity of the toes, with the left 4 th toe placed beneath the 3 th toe and the right
5 th toe placed beneath the 4 th (Figure 2. A, B). A congenital heart disease was suspected
based on the apparent systolic murmur and the enlarged cardiac shadow on the chest
radiogram. Doppler echocardiography confirmed a complex congenital heart disease
consisting of the following components: bicuspid aortic valve, aortic valve stenosis,
coarctation of the aorta, pulmonary valve stenosis, patent ductus arteriosus, atrial septal
defect, M.Ebstain. Ultrasonographic screening for other organ malformations (kidneys,
central nervous system) was negative. Cytogenetic analysis was performed on peripheral
blood lymphocytes, using standard G banding technique (banding resolution of 400
bands, average number of observed metaphase preparations, 50). Kariotype identified
trisomy 18. The initial cardio-respiratory insufficiency was overcome by oxygen support
as well as antihypertensive and diuretic therapeutic measures. However, the child
developed a clinical picture of early neonatal sepsis, that was evident both clinically
(decreased food tolerance, episodes of apnea) and biochemically (increased leucocytes
and C-reactive protein level, decreased platelets, secondary anemia). He was placed,
according to an established protocol, on a double antibiotic regimen with a third
generation cephalosporin and an aminoglicoside in duration of 2 weeks. Fluid and
electrolyte balance was precisely maintained. In the last few days pneumonia developed
that led to cardio-respiratory failure and lethal outcome at the age of 1 month.
Figure 1. Photograph of a male infant with trysomy 18, aged 19 days. Facial dysmorphic
features are noticeable.
A. B.