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Dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome) - The severe infant-onset form of disease presents with cerebellar hypoplasia, IUGR, enteropathy, failure to thrive, and combined immunodeficiency.
Ataxia-Telangiectasia - Older patients with this disease may develop cerebellar atrophy which can be a helpful clue for making a proper diagnosis.
Chediak-Higashi syndrome - Patients develop neurologic abnormalities including peripheral neuropathy (causing weakness and sensory deficits), cerebellar ataxia, seizures, cranial nerve palsies, and developmental delay. Diffuse brain and spinal cord atrophy may be present on MRI.
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