Posters

New insights in vanishing white matter disease: unreported manifestations and atypical course

Poster Details

First Author: S. Barros PORTUGAL

Co Author(s): S. Parreira   A. Miranda   M. Pereira   N. Campos           

Abstract Details

Purpose:

Vanishing white matter disease, VWMD, is a rare disease and the adult form is characterized by a milder and more insidious clinical course. The most prevalent signs include motor difficulties, behavioral changes, dementia and seizures. Radiological criteria using MRI include diffuse abnormalities of almost all the cerebral white matter, with progressive rarefaction and cystic degeneration that leads to its complete disappearance. Molecular genetic studies confirm up to 90% of patients, with five genes (eIF2B1–5) implicated. There is no available treatment. We describe a case of an adult VWMD patient with an unreported manifestation and atypical course. Literature was reviewed.

Setting:

Department of Ophthalmology, Garcia de Orta Hospital. Lisbon, Portugal.

Methods:

Retrospective description of a male patient with Vanishing White Matter Disease complaining of visual loss. Clinical records, optical coherence tomography, standard automated perimetry and magnetic ressonance images were collected. Pubmed database was searched for a combination of terms: vanishing white matter disease, diagnosis, genetics.

Results:

42 years old man, complaining of progressive vision loss in right eye (OD) for three months. No further symptoms. Past medical history: VWMD diagnosed at the age of 30 yo in the context of headaches, homozygous for the mutation in EIF2B5. BCVA was 20/60 OD and 20/25 OS. Fundoscopy revealed bilaterally pale optic discs. Optical coeherence tomography showed decrease of average thickness of retinal nerve fiber layer. MRI images demonstrated extensive loss of cerebral white matter, namely frontal and parietal, marked corpus callossum atrophy, involvement of visual pathways until calcarine sulcus and bilateral nerve optic atrophy. Neurological evaluation was unremarkable.

Conclusions:

This the first case of an adult VWMD patient with progression to bilateral optic neuropathy and progressive visual loss. Despite optic nerve involvement, diffuse involvement of cerebral white matter, from optical radiations to calcarine sulcus bilaterally, were also a contributing factor to visual loss. Moreover, comparing our case to the largest cohort published with VWMD patients with this mutation, our patient had a more benign presentation: later onset and longer survival rate free from unsupported walking (almost 20 years). These case report adds new insights on disease manifestations and emphasize the incomplete understanding on the pathophysiology of the disease.

Financial Disclosure:

None