Clinical, cytogenetic and immunological aspects in 4 cases resembling ataxia telangiectasia.
Four cases resembling ataxia telangiectasia, all characterized by the absence of telangiectasias, are presented. Two are sisters while the other 2 are sporadic cases. The 2 sisters, aged 14 and 12 years, present a progressive neurological disease similar to that characterizing the Louis-Bar syndrome. The clinical picture in 1 of the sporadic cases, a girl aged 13 years, differs from the typical ataxia telangiectasia in having bilateral pyramidal signs in the lower limbs. The last case, a girl aged 8 years, presents an atypical clinical pattern characterized by a severe mental retardation, quite modest cerebellar signs and absence of involuntary movements. The results of the immunological and cytogenetic investigations are presented and discussed.
Lanzi
G
G
Fondazione Istituto Neurologico C. Mondino, Università di Pavia, Italy.
Balottin
U
U
Franciotta
D
D
Maserati
E
E
Ottolini
A
A
Pasquali
F
F
Veggiotti
P
P
D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D001264:Athetosis / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D002648:Child; D002819:Chorea / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14; D002897:Chromosomes, Human, Pair 7; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007070:Immunoglobulin A / Q000378:metabolism; D007073:Immunoglobulin E / Q000378:metabolism; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D007958:Leukocyte Count; D008213:Lymphocyte Activation / Q000235:genetics / Q000276:immunology; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D009460:Neurologic Examination; D010641:Phenotype; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D000509:alpha-Fetoproteins / Q000378:metabolism
D007070:Immunoglobulin A; D000509:alpha-Fetoproteins; D007073:Immunoglobulin E