A newborn with (serious) breathing problems

Key words: SMARD1, Respiratory distress, Hypotonia, Neuromuscular disorder, Newborn

The correct diagnosis, the treatment, and the medical care of a newborn with hypotonia and respiratory distress are difficult because several diseases can have similar clinical presentations. The article describes a case of an eight-year-old child, affected by a very rare neuromuscular disease, who presented with respiratory distress and aspecific symptoms (weakness, delayed growth, hypoglycemia, etc.) from his first days of life. The reader is driven to the correct diagnosis by following a logical approach, in order to analyse many different clinical hypotheses for each main symptom. Finally, some considerations about the complexity but crucial importance of medical assistance for these children are reported.