Abstract
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.
MeSH terms
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Adolescent
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Ataxia Telangiectasia / diagnosis
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Ataxia Telangiectasia / genetics*
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Ataxia Telangiectasia / immunology
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Athetosis / diagnosis
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Athetosis / genetics
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Athetosis / immunology
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Child
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Chorea / diagnosis
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Chorea / genetics
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Chorea / immunology
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Chromosome Aberrations / genetics*
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Chromosome Disorders
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Chromosomes, Human, Pair 14*
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Chromosomes, Human, Pair 7*
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Female
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Follow-Up Studies
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Genes, Recessive / genetics*
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Humans
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Immunoglobulin A / metabolism
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Immunoglobulin E / metabolism
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Intellectual Disability / diagnosis
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Intellectual Disability / genetics
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Intellectual Disability / immunology
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Leukocyte Count
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Lymphocyte Activation / genetics
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Lymphocyte Activation / immunology
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Nervous System Diseases / diagnosis
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Nervous System Diseases / genetics*
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Nervous System Diseases / immunology
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Neurologic Examination
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Phenotype*
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Psychomotor Disorders / diagnosis
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Psychomotor Disorders / genetics
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Psychomotor Disorders / immunology
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alpha-Fetoproteins / metabolism
Substances
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Immunoglobulin A
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alpha-Fetoproteins
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Immunoglobulin E