ataxia-pancytopenia syndrome
A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.
MONDO:0015141
obsolete disorder of medulla oblongata (obsolete MONDO:0015141)
excluded_subClassOf
MONDO:0100310
hereditary cerebellar ataxia
is_a
ATXPC
related
ataxia-pancytopenia syndrome
exact
myelocerebellar disorder
exact