A complex clinical case linking genetic disorders and infectious disease

Abstract

Dr. Leopoldo Di Iorio: On the basis of this clinical presentation, four main hypotheses were considered and simultaneously investigated. First, a cardiogenic shock was considered (subjects with Down’s syndrome can often have multiple cardiac abnormalities, such as atrium-ventricular channel, ventricular or atrial defects, Fallot’s tetralogy), but echocardiography excluded significant alterations of the parietal kinesis or structural abnormalities. Second, the presence of genital mycosis, marked hypocalcaemia, several symptoms indicative of acute adrenocortical deficiency (ions disorders, hypoglycaemia, hypotension, bradycardia) were all suggestive of type I polyglandular autoimmune syndrome (PAS, a syndrome characterised by muco-cutaneous candidiasis, hypoparathyroidism and Addison’s disease) [1]. However, results from specific laboratory tests (presence of hypercortisolaemia associated with normal levels of ACTH and PTH) definitely ruled out this clinical hypothesis. Third, we excluded a neurogenic shock by performing a brain CT, which did not document signs of ischaemic or haemorrhagic lesions, but found an enlargement of the IV ventricle associated with congenital olivary cerebello-pontine atrophy.