A 19-year-old woman with a history of type I Crigler-Najjar syndrome was diagnosed one month after birth.
She was the first daughter of a healthy mother, non-consanguineous parents.
Pregnancy was physiological.
The patient was born at 38 weeks of gestation with normal birth weight (3,500 g).
The child was discharged on the third day of life in good general condition, mildly ichthyosis and readmission to the 10th day due to intense bilirubin therapy with 19 mg/dl total bilirubin, which responded 7 days later.
After one month of life, the patient was hospitalized again for progressive jaundice with total bilirubin up to 29 mg/dl and direct bilirubin 1.3 mg/dl.
Liver tests were within the normal range for age (SGOT 48 IU/L, SGPT, alkaline phosphatase 56 mm/L, white blood cells 567 IU/L), and sedimentation rate 2200 x200).
Abdominal ultrasound showed mild hepatomegaly without bile duct dilatation.
She was admitted to Santiago with suspected biliary atresia.
During her stay in the tertiary care center, the girl was evaluated with complete blood count (he had abnormal liver tests SGPT, hemoglobin 12.8 g/dl, white blood cells 11.800 x mm3), abnormal liver tests (BT 26.11 mg/dl, alkaline TSH abnormal
Due to the fact that this was an indirect predominance of jaundice, treatment with fenobarbital 5 mg/kg/day was started, with no clinical or laboratory response.
Phenobarbital dosage was increased to 6.5 mg/kg/day, also without response.
It was concluded that the patient had type I Crigler-Najjar syndrome and continued nocturnal phototherapy was initiated, achieving total bilirubin levels close to 11 mg/dl (dl with BD syndrome 1.5).
The patient was admitted daily to his home hospital with phototherapy and instructed to perform a nocturnal artisanal phototherapy at home with white fluorescent light (6-8 tubes), exposed to 30-50 cm of the child h.
The patient remained well, with good height-weight gain and psychomotor development.
Two years later she began to present recurrent seizures related to a suspension of phototherapy for approximately 2 months.
The seizures were difficult to manage, being treated with fenobarbital and subsequently added valproic acid.
From the cognitive point of view, the patient had mild mental retardation diagnosed by Weschler's intelligence test for preschoolers (WISP) and neurological evaluation concluded the presence of kernicterus.
Bilirubin levels achieved with nocturnal phototherapy increased over the years.
Currently, the patient is kept under phototherapy for 18 h daily, achieving total bilirubin levels ranging between 20 and 26 mg/dl. She has had 100 mg of fenobarbital every 12 h, without seizures.
