The Journal of Bucharest College of Physicians and the Romanian Academy of Medical Sciences

Catalin Gabriel Cirstoveanu

Catalin Gabriel Cirstoveanu

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Berdon’s syndrome - First Report in Romania

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare motility disorder with high mortality rate described by Berdon in 1976. We present the first case of Berdon’s syndrome (heterozygous pathogenic variant in the ACTG2 gene) reported in Romania, a female newborn admitted in NICU “Marie S. Curie” Emergency Children’s Hospital Bucharest for intestinal obstruction after birth. Total parenteral nutrition, ileostomy, gastrostomy, clean intermittent bladder catheterisation, evaluation for multivisceral transplantation were performed. She was discharged from our NICU ward at the age of 4 years and 2 months with home total parenteral nutrition administered by her mother in sterile condition, clean intermittent catheterisation for bladder evacuation performed by her mother, monitored monthly for about three years, with normal cardio-respiratory function, no signs of thrombosis, she maintained relatively low platelet count without positive blood culture, good liver and renal function test. Normal neurological and psychomotor development according to age. Her course was complicated by multiorgan failure with death ensuing at the age of 7 years and 10 months.

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Treating Congenital Diaphragmatic Hernia with ECMO: First Successful Case in Romania

We present the first successful case of extracorporeal membrane oxygenation (ECMO) at „M.S. Curie” Emergency Clinical Hospital for Children, Newborn Intensive Care Unit: a term neonate with cardiorespiratory failure secondary to left sided congenital diaphragmatic hernia. The patient was placed on veno-venous ECMO at three days of life;
however, on the fourth day, due to unstable right ventricular function, conversion to veno-arterial ECMO was mandatory. At one week of life, the patient was operated on-site for diaphragmatic hernia without ECMO support and then reintroduced on ECMO immediately after the surgical procedure, being on ECMO support for a total of 8 days. Antithrombotic treatment was administered for significant occlusion of the right common carotid artery and right internal jugular vein (complication of the cannulation for ECMO) and also long term treatment for Persistent Pulmonary Hypertension was needed. The patient was discharged at the age of four months with moderate neurodevelopmental delay. The literature review indicates that neonatal ECMO procedure in Romania is still in its early stages. Despite this state, our current case proves that ECMO can be successfully performed with increased chances of survival for neonates with severe prognosis after failure of conventional therapy.

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