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Patients show cerebellar ataxia accompanied by pancytopenia, hypoplastic anemia, acute myelomonocytic leukemia, or decreased bone marrow mitotic activity.

Ataxia-Pancytopenia Syndrome.

Unknown, only a few cases have been described in the literature.

Autosomal dominant.

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 or leukemia.

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 115:108, 1989.  [PubMed: 2738778]
Gonzalez-del Angel A, Cervera M, Gomez L, et al: Ataxia-pancytopenia syndrome. Am J Med Genet 90:252, 2000.

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