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Ataxia-pancytopenia syndrome

✍ Scribed by Angel, A. Gonz�lez-del ;Cervera, M. ;G�mez, L. ;P�rez-Vera, P. ;Orozco, L. ;Carnevale, A. ;Del Castillo, V.

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
19 KB
Volume
90
Category
Article
ISSN
0148-7299

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✦ Synopsis

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 ataxiapancytopenia syndrome, although monosomy of chromosome 7 was not found in bone marrow. The cytogenetic studies suggest that this may be a chromosomal instability disorder.

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Ataxia—ocular motor aprilaxia: A syndrome mimicking ataxia-telangiectasia
✍ Dr. Jean Aicardi; Célia Barbosa; Eva Andermann; Frederick Andermann; Rami Morcos 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 588 KB

We report 14 patients with a slowly progressive syndrome featuring ataxia, choreoathetosis, and ocular motor apraxia in both the horizontal and vertical planes. Although the neurological signs were indistinguishable from those of ataxia-telangiectasia, the onset tended to be later and none of the pa