Papilloedema, a complication of progressive diaphyseal dysplasia: a series of three case reports
- Mark Wrighta,
- Neil R Millerb,
- Robert M McFadzeanc,
- Paul Riordan-Evad,
- Andrew G Leee,
- Michael D Sandersd,
- Gawn G McIlwainef
- aPrincess Alexandra Eye Pavilion, Edinburgh, bWilmer Eye Institute, Baltimore, Maryland, USA, cInstitute of Neurological Sciences, Glasgow, dThe National Hospital for Neurology and Neurosurgery, London, eCullen Eye Institute, Baylor College of Medicine, Texas, USA, fDepartment of Clinical Neuroscience, Western General Hospital, Edinburgh
- Dr G G McIlwaine, Department of Clinical Neuroscience, Western General Hospital, Crewe Road South, Edinburgh, EH4 2XU.
- Accepted 26 February 1998
Abstract
BACKGROUND/AIMS Progressive diaphyseal dysplasia (PDD) is a rare, autosomal dominant, osteosclerotic dysplasia affecting both endochondrally and intramembranously derived bones. Severely affected patients can develop progressive stenosis of the optic canals and compressive optic neuropathy. Although raised intracranial pressure (ICP) has been described in patients with PDD in whom visual loss has occurred, the elevation of ICP in those patients has been thought to be either non-contributory or only partially responsible for the accompanying visual loss.
METHODS Three cases were reviewed and the clinical and radiological characteristics are described here.
RESULTS All three patients had bilateral optic disc swelling with no radiological evidence of either compressive optic neuropathy or thrombosis of the intracranial venous sinuses. The aetiology of the disc swelling was proved to be papilloedema in 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 three 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 probably require periodic ophthalmic assessments.
