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Record diagnosis of a rare disease on a newborn – Healthcare

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Record diagnosis of a rare disease on a newborn – Healthcare


Worldwide there are only about 50 other cases of a rare disease diagnosed early by the Di Venere hospital in Bari, in a 15-day-old newborn. The Bari ASL informs in a note that the baby was diagnosed with mitochondrial DNA depletion syndrome after birth: four days were enough for the Di Venere neonatal intensive care team and the Genetics laboratory and the Operating Unit of Metabolic Diseases of the Giovanni XXIII Children’s Hospital in Bari to ascertain the case. Thanks to the early classification, “in times never reached up to now in any case known to the medical-scientific literature”, the newborn has received the adequate therapy to treat the disorder.
The baby was born prematurely, at 31 weeks, weighing 1,400 grams, after an emergency caesarean section. Thanks to the therapy, today the baby, who is almost 30 days old, has reached a weight of 1790 grams and is “growing progressively and regularly”.
24 hours after birth, the newborn presented a disorder, “with important metabolic acidosis, accumulation of lactic acid and base deficit”.
“The instrumental investigations and chemical analyzes – argues Dr. Gabriele D’Amato, director of Utin Di Venere – have excluded secondary causes of this disorder”.
Hence the decision of the Di Venere neonatal intensive care unit to alert the Metabolic Diseases Unit of the Pediatric Hospital with the urgent start of an exome sequencing. “The investigation – explains the director of Medical Genetics, Mattia Gentile – completed in just 4 days, made it possible to identify a mutation. Our case represents the earliest diagnosis among those known in the literature”.

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