Responsiveness to phenobarbital in an adult with Crigler-Najjar disease associated with neurological involvement and skin hyperextensibility.
We present the case of a 23-yr-old man who had had since birth marked and sustained unconjugated non-hemolytic hyperbilirubinemia and who had had several attacks of grand mal seizures. Analysis of serum bilirubin by diazoreactive methods showed serum levels of unconjugated bilirubin as high as 445 mumol/L that were not affected by phenobarbital administration. However, analysis of serum bile pigments by high-pressure liquid chromatography demonstrated marked decrease of unconjugated bilirubin after phenobarbital treatment (from 432.4 mumol/L to 291.0 mumol/L) associated with slight increase of bilirubin monoconjugates and disconjugates (from 0.25 mumol/L to 0.42 mumol/L). Furthermore, in the past few years the patient had exhibited striking skin hyperextensibility and diaphragm eventration. This case confirms that alkaline methanolysis-high-pressure liquid chromatography is the most reliable method for assessment of serum fraction bilirubin levels; that clinical parameters such as neurological signs do not unequivocally discriminate between type I and II Crigler-Najjar disease and that response to phenobarbital treatment remains the main diagnostic tool.
Persico
M
M
Istituto di Medicina Generale e Metodologia Clinica, I Facoltà di Medicina e Chirurgia, Università di Napoli, Italy.
Romano
M
M
Muraca
M
M
Gentile
S
S
D000328:Adult; D001663:Bilirubin / Q000097:blood; D002851:Chromatography, High Pressure Liquid; D003414:Crigler-Najjar Syndrome / Q000150:complications / Q000188:drug therapy* / Q000503:physiopathology; D004830:Epilepsy, Tonic-Clonic / Q000209:etiology*; D006801:Humans; D008297:Male; D010634:Phenobarbital / Q000627:therapeutic use*; D012867:Skin / Q000503:physiopathology*
D001663:Bilirubin; D010634:Phenobarbital