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Impressum
Electrophysiological findings in a patient with Hallervorden-Spatz- Disease
Eibl K. H., Rudolph G., Hörmann C.
Department of Ophthalmology, University Eye Hospital, LMU Munich, Mathildenstr. 8, D - 80336 Munich
Objective: To characterise the clinical phenotype, with emphasis
on electrophysiology, in a patient diagnosed with Hallervorden-Spatz-Disease,
a rare extrapyramidal motor illness with involvement of the nigrostriatal
system.
Patients: We present an 18 year old patient with progressive neurological
impairment since her 12th age who was referred to our clinic for further
electrophysiological examination. Typical magnetic resonance imaging (MRI)
findings and heterogenous clinical symptoms such as inconstant tremor,
intermittent spastics in the lower extremities and dementia had lead to
the diagnosis of Hallervorden-Spatz-Disease. We performed a complete ophthalmological
examination including visual acuity, slit lamp biomicroscopy, fundoscopy,
fundus photography, full-field electroretinogram (ERG), and visual evoked
potentials (pattern-VEP and flash-VEP).
Results: Visual acuity was reduced to 0,1 cc in the right and 0,2
cc in the left eye. Ophthalmological examination was unremarkable except
for temporal paleness of the optic disc and discrete macular pigment epithelium
changes in both eyes. The scotopic ERG was normal. The photopic ERG showed
reduced potentials and increased latencies when stimulating L-cones. 30
Hz-flicker and single flash were within lower normal limits. The flash-VEP
displayed increased latencies and normal amplitudes. Potentials in the
pattern-VEP were not reproducible.
Conclusions: The electrophysiological findings presented above
are consistent with a beginning optic nerve atrophy and a cone dysfunction.
Optic nerve atrophy and tapetoretinal degenerations such as Retinitis
pigmentosa have been described previously in Hallervorden-Spatz-Disease
in contrast to a cone dysfunction.