Ataxia-pancytopenia syndrome.
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 response to bleomycin. The phenotype support the diagnosis of ataxia-pancytopenia syndrome, although monosomy of chromosome 7 was not found in bone marrow. The cytogenetic studies suggest that this may be a chromosomal instability disorder.
González-del Angel
A
A
Department of Genetics, Instituto Nacional de Pediatría, Mexico City, Mexico.
Cervera
M
M
Gómez
L
L
Pérez-Vera
P
P
Orozco
L
L
Carnevale
A
A
Del Castillo
V
V
D000328:Adult; D001260:Ataxia Telangiectasia / Q000175:diagnosis; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D003937:Diagnosis, Differential; D005199:Fanconi Anemia / Q000175:diagnosis; D005260:Female; D006801:Humans; D007621:Karyotyping; D010198:Pancytopenia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D013577:Syndrome