Naples: A newborn baby with metabolic arrest was saved at Santobono Hospital.

Naples – A fate marked by a merciless statistic—only 93 cases described in the entire global scientific literature—has been rewritten in the wards of the Santobono Pediatric Hospital in Naples. The victim is a child less than one year old, who arrived from the province of Salerno in extremely critical condition, already unconscious, and who was discharged today with no neurological sequelae.

His medical history began with seemingly banal symptoms: repeated vomiting and severe loss of appetite, triggered by a common viral infection. But behind that discomfort lay a very rare genetic metabolic disorder, a ketogenesis deficiency, which rapidly triggered a devastating domino effect. Unable to produce ketone bodies—a vital alternative energy source during periods of fasting or hypoglycemia—the little boy's body sank into a severe metabolic acidosis, a potentially lethal condition.

The race against time began immediately upon arrival at the Emergency Room. Tests revealed a dramatic clinical picture, necessitating emergency admission to the Pediatric Intensive Care Unit. Here, the acidosis proved refractory to standard pharmacological treatments, forcing a dire decision: to restore the child's values ​​to normal and stabilize him during the most critical hours, the team had to subject him to a 42-hour cycle of continuous dialysis, a highly complex lifesaving procedure practiced in very few centers in Italy.

At the same time, another crucial step was being taken on the diagnostic front. Close collaboration with Ceinge and the Reference Center for Congenital Metabolism Defects at the Federico II University allowed genetic testing to begin immediately, rapidly identifying the invisible enemy.

Today, the child left the hospital in good clinical condition, equipped with a continuous glucose monitoring system and a precise nutritional regimen, essential safeguards to prevent further periods of prolonged fasting. A specialized follow-up program has already been set up for him at Santobono Pausilipon.

"This case confirms our role as a national referral center for highly complex and rare diseases," said Director General Rodolfo Conenna. "It demonstrates how integrating clinical care, advanced diagnostics, and research is crucial to ensuring timely diagnoses and highly specialized treatments even in the most critical situations. This achievement is based on a multispecialty and integrated approach."