Ataxia-pancytopenia syndrome.

  title={Ataxia-pancytopenia syndrome.},
  author={Ariadna Gonz{\'a}lez-Del Angel and Manuel Cervera and Lucienne Gomez and P P{\'e}rez-Vera and Lorena Orozco and Alessandra Carnevale and Victoria del Castillo},
  journal={American journal of medical genetics},
  volume={90 3},
We report on a Mexican girl who developed cerebellar ataxia at age 3 years and pancytopenia at age 13 years. Cerebral computed tomography scan and magnetic resonance imaging showed evidence of severe cerebellar atrophy. Telangiectasias were not present; immunoglobulins and alpha-fetoprotein levels were normal. Cytogenetic studies showed no evidence of spontaneous chromosome aberrations, a normal rate of diepoxybutane (DEB) and mitomycin C (MMC)-induced chromosome aberrations, but an increased… CONTINUE READING