Details

Autor(en) / Beteiligte

• Labrune, P H
• Myara, A
• Francoual, J
• Trivin, F
• Odièvre, M

Titel

Cerebellar symptoms as the presenting manifestations of bilirubin encephalopathy in children with Crigler-Najjar type I disease

Ist Teil von

• Pediatrics (Evanston), 1992-04, Vol.89 (4 Pt 2), p.768-770

Ort / Verlag

United States

Erscheinungsjahr

1992

Quelle

MEDLINE

Beschreibungen/Notizen

• Crigler-Najjar (CN) disease is a rare metabolic disorder characterized by a permanent deficiency in hepatic bilirubin UDPglucuronate β-d-glucuronosyl-transferase (UDPG-T, EC 2.1.4.17) activity. Since 1969, patients affected by this disease have been classified in two groups: in the first group (CN type I), the serum bilirubin concentration does not decrease under treatment with phenobarbital although it does so dramatically in the second group (CN type II).1,2 Despite the use of phototherapy and cholestyramine to avoid bilirubin neurotoxicity, patients affected by CN type I disease are at permanent risk of developing kernicterus with severe neurologic sequelae. The classic symptoms of kernicterus in the neonate, with or without CN disease, do not comprise prominent cerebellar manifestations, and, in most cases, the infants die or develop choreoathetosis, hearing loss, and severe mental retardation.3,4