Cardiac arrest for adrenal insufficiency in a contiguous gene deletion syndrome at Xp21.3.21.2: The importance of a careful clinical monitoring and accurate genetic definition

Contiguous gene deletion syndromes are so named because the deletion manifests as a distinctive cluster of otherwise unrelated single-gene disorders in the same subject. An accurate genetic definition ofthe deleted region is extremely important for the appropriate management of these patients and for unravelling the function of the involved genes. We report the clinical presentation, diagnostic course, genetic investigations and follow-up of L.B., born at term with neonatal weight 3070g, length 50-1cm. He presented pathological weight loss, notwithstanding adequate feeding, at 9 days he had hypotonia, severe dehydration (marked hyperK and hypoNa), brachyarithmia and subsequent asistolia.