tokens: Patient presentation We report a male Italian ( Sicilian ) child , born preterm at 28 + 6/7 weeks gestation , carrying a novel LRPPRC compound heterozygous mutation , with facial dysmorphisms , neonatal hypotonia , non - epileptic paroxysmal motor phenomena , and absent sucking - swallowing - breathing coordination requiring , at 4.5 months , a percutaneous endoscopic gastrostomy tube placement .