Doctor CKII Vu Thi Thu Nga - Head of the Department of Neonatology, Duc Giang General Hospital, said that the patient was a 34-week premature baby, weighing 1900g, treated for sepsis/persistent hypoglycemia at the National Children's Hospital and was discharged 30 days ago. The baby is currently 80 days old, and is being treated as an outpatient for congenital metabolic disorder due to L-Carnitine deficiency.
One day before being admitted to the hospital, the child vomited, had no fever, and ate less. After that, the family noticed that the child slept more, was difficult to wake up, had no fever, no cough, and had normal bowel movements.
After examination, the doctor diagnosed the child with sepsis, septic shock, grade 3 respiratory failure, hypoglycemia, suspected acute episode of fatty acid metabolism disorder.
The child was intubated, ventilated, given fluid boluses, vasopressors, antibiotics, fasted, given high-concentration glucose, monitored with capillary blood sugar tests every 3 hours, and continued to take L.carnitine.
The child's health improved but he still needed a ventilator.
Test results showed that the child had influenza A, Klebsiella pneumonia, liver dysfunction, hypoglycemia, and high metabolic tests.
The child had a fever that gradually increased 6 hours after admission. After 24 hours, the child was awake, with good muscle tone. The endotracheal tube was removed, non-invasive ventilation continued, and vasopressors were stopped after 2.5 days.
After a week of treatment, the child was still on non-invasive ventilation, the ventilator index was low, the fever decreased, and metabolic tests improved. From the third day, the child was fed a special formula for children with fatty acid disorders, along with intravenous support.
According to Russian doctors, fatty acid metabolism disorder is a genetic syndrome that runs in families. Symptoms of the disease are common in young children, sometimes in adults but very rare.
When a patient has an infection, food poisoning, or a disease, symptoms of the disease may develop such as:
- Drowsiness, fever, fussiness, behavioral changes.
- Nausea and vomiting, diarrhea, loss of taste.
- Loss of sensation in arms and legs, muscle pain, cramps, general weakness.
- Low blood sugar, impaired vision.
Doctors recommend that newborn screening is an active preventive measure for congenital fatty acid metabolic disorders to avoid serious complications when accompanied by another disease.
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