Patients show cerebellar ataxia accompanied by
pancytopenia, hypoplastic anemia, acute myelomonocytic leukemia, or
decreased bone marrow mitotic activity.
Unknown, only a few cases have been described in the
Progressive expansion of clone of cells with
monosomy 7 has been shown, but sensitivity to bleomycin suggests this may
also be a chromosomal instability disorder.
Red cell, platelet, and leukocytes abnormalities. There
may be lymphomas or leukemias. Radiologic investigation shows cerebellar
atrophy on CT scan. Laboratory investigations show monosomy 7 mosaicism, and
electromyographic studies show reduced nerve conduction velocities.
Patients may show pancytopenia, hypoplastic
anemia, acute myelomonocytic leukemia, or decreased bone marrow mitotic
activity. On examination, cerebellar ataxia, brisk deep tendon reflexes,
bilateral Babinski reflexes, diminished vibratory sensation in the legs, and
unsteady gait can be found. Purpura may be present, and some cases show
telangiectasia or angiokeratomata of the skin. Nystagmus and dysmetria are
often present (cerebellar signs). Patients usually die of hypoplastic anemia
Complete workup, including
neurologic and motor milestones, family history, and previous problems.
Blood tests are necessary because of marrow involvement, blood count, and
clotting profile. Because of potential for defective immunity, the patient
may have recurrent pulmonary, sinus, or urinary tract infections. Severe
anemia may be present from an early age.
Check hemoglobin, hematocrit, and
pulmonary function as indicated. Treat anemia if severe. Ensure sterile
technique for venipuncture (reverse isolation).
Antibiotics may be required.
Daghistani D, Curless R, Toledano SR, et al: Ataxia-pancytopenia and
monosomy 7 syndrome. J Pediatr
Gonzalez-del Angel A, Cervera M, Gomez L, et al: Ataxia-pancytopenia
syndrome. Am J Med Genet 90:252, 2000.