Papilledema and hyperostosis cranialis in vitamin A deficiency

Case report: A 13 years old boy presented with strong headache, emesis and vomiting. He had already had impaired vision 20 days ago and because of the presumption diagnosis of a vitamine A deficiency an topical treatment with retinol drops was started.

We performed further investigation and found bilateral papilledema (right 2,25dpt, left 2,75dpt) and xerophthalmia. Physical signs and neurologic examination yielded normal findings. Laboratory tests demonstrated low serum levels of vitamin A. The brain imaging (MRI and CT) showed hyperostosis cranialis with bone narrowing of both orbita but without compression of the opticus nerve. CSF pressure was normal, also the CSF composition. In bones of the limbs and the hips there was a variable degree of osteopenia and widening of bone marrow. Further evaluation documented an anemia. To exclude a blood disease the patient underwent bone marrow biopsy. The bone marrow biopsy findings were unspecific and shown an iron deficiency anemia. In the following the presumption diagnosis of the vitamine A defiency could be confirmed by laboratory analysis. Further more it was reported that the patient's diet consisted only of chips and fried potatoes.

Systemic treatment was administered with vitamin A and acetazolamide per os.

Result: Xerophthalmia disappeared after restoration of normal vitamin A blood levels; papilledema show a slight improvement (after treatment with acetazolamide). The mother reported also that they changed the nutrition to a balanced diet.

Discussion: Xerophthalmia is a typical sign of vitamin A deficiency. Causal associations between vitamin A deficiency and pseudotumor cerebri with papilledema are reported in literature. Experimentally observed in animals is also a correlation of hyperostosis cranialis, bone changes and vitamin A deficiency. That kind of correlation could not yet been proven in humans. Therefore we have he hypothesis that in our patient the vitamin A deficiency induced and could also explain the hyperostosis cranialis and papilledema.