Author/Editor		Gnidovec, B; Kopač, Š
Title		Krabbejeva levkodistrofija
Translated title		Krabbe leukodystrophy
Type		članek
Source		Slov Pediatr
Vol. and No.		Letnik 7, št. 2
Publication year		2000
Volume		str. 71-4
Language		slo
Abstract		Krabbe disease, or globoid cell leukodystrophy, is a rare autosomal recessive degenerative disease of the central and peripheral nervous systems. A girl with a "classical" irritative - hypertonic variant of the disease is described. Diagnosis, which was made at the age of five months; was based on the total absence of galactocerebroside beta-galactosidase activity in leukocytes. Treatment of the disease is symptomatic. The prognosis is poor, with most patients dying before the end of the second year of life. Nevertheless, the early diagnosis of the disease is very important for prenatal counselling.
Summary		Krabbejeva levkodistrofija oz. levkodistrofija globoidnih celic je redka, dedna nevrodegenerativna bolezen, ki prizadane osrednje in periferno živeevje: Opisana je deklica s klasično iritativno-hipertonično varianto bolezni. Diagnozo smo postavili v petern mesecu dekličine starosti z določitvijo aktivnosti galaktocerebrozid beta-galaktozidaze v limfocitih, ki je pokazala popolno odsotnost encima. Zdravljenje bolezni je simptomatsko, prognoza pa slaba, saj smrt običajno nastopi pred dopolnjenim drugim letom starosti. Kljub temu pa je zgodnja postavitev diagnoze pomembna, saj obstaja možnost prenatalne diagnostike.
Descriptors		LEUKODYSTROPHY, GLOBOID CELL INFANT