A 16-year-old girl presented with a clinical condition characterized by fever and malaise.
She had a regular seizure for 6 years.
This represents one of its multiple admissions to hospitals.
Since birth, the adolescent presented with jaundice, predominantly unconjugated bilirubin, which persisted during the first weeks of life, even under the effects of phototherapy.
Liver function tests (AST, AST, GGT, alkaline phosphatase) were performed, always within normal parameters, and hematocrit, hemoglobin and peripheral blood smears were measured to rule out hemolysis as the cause of the infection.
Jaundice persisted and after 4 years new liver function tests were performed which were normal; however, indirect bilirubin was constantly elevated (about 8 mg/dl).
Subsequently, a liver biopsy was performed which was normal.
The patient had a neurocognitive, intellectual and motor development, apparently normal up to 10 years (age until she came to school).
Since then, the patient presented generalized hypotonia, frequent drowsiness, strabismus, hearing loss and generalized tonic-clonic seizures, which frequently triggered episodes of status epilepticus.
Seizures were initially resolved with phenytoin, fenobarbital and valproic acid at mean therapeutic doses.
Magnetic resonance imaging of the brain revealed a slight increase in the size of the lateral ventricles.
Over the months, a clinical picture compatible with cerebral palsy, with bradylalia, quadriparesis, hypotonia and intellectual hypotrophy, ataxia, frequent convulsions, was established in the patient.
It was decided to enter the ICU where sodium thiopental was administered to induce a therapeutic coma; bilirubin concentrations were extremely high (total bilirubin: 23.4 mg/dl; indirect bilirubin: 22.1dl).
Subsequently, in exchange for thiopental, phenobarbital was administered, and the patient regained consciousness without seizures.
In addition to preventing seizures, fenobarbital clearly reduced bilirubin levels (total bilirubin: 12.6 mg/dl; indirect bilirubin: 11.3 mg/dl).
1.
Among the family history, the patient presents her younger sister with similar clinical data (icteric syndrome, frequent seizures, quadriparesis, intellectual deficit).
A genealogical study suggested an autosomal recessive disease transmission.
A karyotype was normal.
1.
The presence of a disease in two individuals of the same generational line supposes a horizontal transmission pattern, typical of recessive autosomal diseases.
Figure 2.
Genealogical study of the patient
