PAPILLEDEMA, A COMPLICATION OF PROGRESSIVE DIAPHYSEAL DYSPLASIA - A SERIES OF 3 CASE-REPORTS

Background/aims-Progressive diaphyseal dysplasia (PDD) is a rare, auto somal dominant, osteosclerotic dysplasia affecting both endochondrally and intramembranously derived bones. Severely affected patients can d evelop progressive stenosis of the optic canals and compressive optic neuropathy. Although raised intracranial pressure (ICP) has been descr ibed in patients with PDD in whom visual loss has occurred, the elevat ion of ICP in those patients has been thought to be either non-contrib utory or only partially responsible for the accompanying visual loss. Methods-Three cases were reviewed and the clinical and radiological ch aracteristics are described here. Results-All three patients had bilat eral optic disc swelling with no radiological evidence of either compr essive optic neuropathy or thrombosis of the intracranial venous sinus es. The aetiology of the disc swelling was proved to be papilloedema i n the first two cases and was probably the dominant cause in the third case. Conclusion-The visual loss documented in at least two of the th ree patients reported appears to be solely attributable to raised ICP. Normalisation of the ICP has led to an improvement and stabilisation of the visual function in all three patients. Patients with PDD probab ly require periodic ophthalmic assessments.