In Lviv, a baby is being treated for two rare conditions, with no other similar cases reported.

Seven-month-old Marichka is diagnosed with two rare diseases — Rubinstein-Taybi syndrome and Abernethy syndrome. The combination of these congenital conditions is so uncommon that no similar case has been documented in global literature, as reported by the Western Ukrainian Specialized Children's Medical Center.

Marichka was born prematurely at 34 weeks of gestation and required special attention from her first days of life. The newborn was hospitalized in a hospital in Ivano-Frankivsk, where she was treated for whooping cough, pulmonary bleeding, and gastrointestinal issues.

Later, the family moved to the Lviv region. Concerned about their daughter's frequent illnesses, her parents sought help from a medical center, where geneticists identified Rubinstein-Taybi syndrome.

The child spent over two months in the hospital. Due to respiratory issues, she needed non-invasive ventilation support with a mask. Additional blood tests revealed biochemical abnormalities, prompting doctors to perform a computed tomography scan of the liver vessels.

During the computed tomography, doctors discovered hypoplasia of the portal vein and an extrahepatic shunt, known as Abernethy syndrome (type II).

This rare anomaly results in a significant portion of blood entering the systemic circulation bypassing the liver, leading to hepatic hypoxia. In severe cases, the condition can cause hepatic encephalopathy and metabolic disorders. Fortunately, the anomaly in the girl was detected in a timely manner, at a stage of minimal liver function changes, allowing gastroenterologists to initiate immediate treatment for the metabolic disorders.

The girl is under careful monitoring by specialists at the Center. At the Gastroenterology Clinic, she began treatment aimed at correcting metabolic changes, while a cardiologist and ophthalmologist are overseeing her compensated heart defect and vision issues related to Rubinstein-Taybi syndrome. Pediatricians are providing symptomatic therapy.

Recall that 23-year-old Shoni Ray "got stuck" in the body of an eight-year-old girl. Chemotherapy saved her life but disrupted her pituitary function, halting her growth.