3 Výsledek
We report two children with bilateral Coats' disease associated with cerebral calcifications in the basal ganglia and deep white matter, asymptomatic at the time of their discovery. Cerebellar ataxia developed secondarily in one of them. Both children were born small for date and had febrile
BACKGROUND
Extensive cerebral calcifications and leukoencephalopathy have been reported in two rare disorders Coats plus and leukoencephalopathy with calcifications and cysts. In the latter, a progressive formation of parenchymal brain cysts is a special feature, whereas Coats plus is characterized
OBJECTIVE
To investigate whether individuals, with no family history of ataxia telangiectasia (AT), in whom idiopathic or radiation-induced ocular telangiectasia developed are carriers of ATM gene mutations.
METHODS
The ATM cDNA from lymphoblastoid cell lines established from 16 patients with