18-months-old girl, the child of related parents, with no particular pathological history, presented with respiratory disorders associated with the fever and cough. On The clinical examination, the child was febrile and had respiratory distress. The respiratory rate was 60/min, heart rate 100/min, and blood pressure 100/70 mmHg, The weight and height were 10 kg (under 2DS) and 70 cm (normal for that age) respectively the facies was particularly suggestive of cutis laxa: An early senile appearance with pendulous ear lobes (Figure 1) ; and stretchy skin that mobilizes easily and numerous flabby folds throughout the body (Figure 2). At the pleuro-pulmonary examination, the patient was polypneic with snoring rales; The cardiovascular examination had objectified a heart murmur with hepatomegaly on abdominal palpation. The chest X-ray revealed cardiomegaly with parenchymal lesions, the transthoracic echocardiography found left cavities dilated with a hypokinetic right ventricle with pulmonary hypertension.
Figure 1: Senile face. View Figure 1
Figure 2: Flaccid skin folds. View Figure 2
The patient was treated with antibiotic therapy with diuretics but the evolution was marked by death in a table of heart failure.