Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome

M. Di Rocco, A. Arslanian, M. Romanengo, F. Dagna-Bricarelli, C. Borrone

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)159-160
Number of pages2
JournalJournal of Medical Genetics
Volume36
Issue number2
Publication statusPublished - 1999

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Keywords

  • Ataxia-telangiectasia
  • Breakage syndrome
  • Histiocytosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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