Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome.
An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. Microcephaly, severe growth deficiency, and ocular telangiectasia were also evident. Magnetic nuclear resonance imaging showed cerebellar atrophy. Alphafetoprotein was increased. Chromosome instability after x irradiation and rearrangements involving chromosome 7 were found. Molecular study failed to show mutations involving the ataxia-telangiectasia gene. This patient has a clinical picture which is difficult to relate to a known breakage syndrome. Also, the relationship between the clinical phenotype and histiocytosis is unclear.
Di Rocco
M
M
II Paediatric Division, G Gaslini Institute, Genova, Italy.
Arslanian
A
A
Romanengo
M
M
Dagna-Bricarelli
F
F
Borrone
C
C
D001259:Ataxia / Q000235:genetics*; D001260:Ataxia Telangiectasia / Q000235:genetics*; D002648:Child; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D004262:DNA Restriction Enzymes; D006646:Histiocytosis, Langerhans-Cell / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010641:Phenotype; D013577:Syndrome
D004262:DNA Restriction Enzymes