Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.
Two related infants with microcephaly, spastic quadriplegia, and profound retardation are reported. Both showed extensive bilateral symmetrical calcification of the basal ganglia with cerebrospinal fluid pleocytosis.
L
L
Mehta
J Q
JQ
Trounce
J R
JR
Moore
I D
ID
Young
D001480:Basal Ganglia Diseases / Q000134:cerebrospinal fluid / Q000235:genetics*; D002114:Calcinosis / Q000134:cerebrospinal fluid / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010375:Pedigree; D011782:Quadriplegia / Q000235:genetics