A previously healthy 10-week-old infant presented with isolated unilateral facial nerve paralysis which progressed to bilateral paralysis over a 2-week period. Evaluation including MRI and CT of the brain and facial nerve, CSF evaluation and EMG yielded no diagnosis. A single F508 gene mutation on the newborn screen prompted sweat chloride testing which confirmed a diagnosis of cystic fibrosis. On measurement of fat-soluble vitamins, levels of vitamin A were approximately 10% of the lower normal range, in the absence of objective evidence of pseudotumor cerebri. This case emphasizes an important association between hypovitaminosis A, cystic fibrosis and facial nerve palsy.

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http://dx.doi.org/10.1016/j.jcf.2006.08.001DOI Listing

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