A 7 year-old girl was admitted because of chronic diarrhea, short stature and frequent febrile episodes.
On physical examination, telangiectatic erythema were noted on the face and chest. Laboratory findings showed abnormal lactose tolerance test and low level of serum immunoglobulin A and M. Chromosome analysis revealed an increase of chromosomal rearrangement including Quadriradial configuration and dicentric incidence chromosomes. She was suspected to have ‘Bloom's syndrome’.
A diagnosis of lactase deficiency was also established by the peroral small-bowel biopsy which showed markedly decreased lactase activity.
Therapeutic trial of lactase resulted in dramatic improvement of diarrhea, but she readmitted with cough and high fever five months later. A biopsy of the left supraclavicular lymphnode showed the histology of Hodgkin's disease. She was treated with radiation and chemotherapy but she died two months later.
Relation between Bloom's syndrome and malignancy is discussed.
