Age and Ageing Advance Access originally published online on December 8, 2007
Age and Ageing 2008 37(2):231-232; doi:10.1093/ageing/afm191
Case Reports |
Vision loss due to coincident ocular and central causes in a patient with Heidenhain variant Creutzfeldt-Jakob disease
1 Bentley Health Service, Mills Street, Bentley, Perth, Western Australia
2 Lions Eye Institute, Perth, Western Australia
3 Royal Perth Hospital, Perth, Western Australia
Address correspondence to: Maria Foundas. Tel: 0419 931 682; Fax: (+61) 089 444 8893. Email: Maria.Foundas{at}health.wa.gov.au
Abstract
Creutzfeldt-Jakob disease (CJD) is a degenerative disease of the brain associated with a rapidly progressive spongiform encephalopathy. Visual symptoms and neuro-ophthalmological signs are not infrequent, and presentation to an ophthalmologist may result. A case is reported of an 89-years-old gentleman who presented with a short history of isolated deterioration in vision. He underwent ocular intervention but subsequently developed progressive dementia, asterixis, myoclonus, cerebellar and extrapyramidal signs, and cortical blindness. An electroencephalogram was consistent with CJD. The patient progressively deteriorated and died 9 weeks after symptom onset. Limited post-mortem examination confirmed CJD.
Keywords: cortical blindness, Creutzfeldt-Jakob disease, dementia, myoclonus, elderly
The patient presented to his ophthalmologist with a history of long-standing reduced vision in his left eye and deteriorating vision in his right eye over the preceding 3 weeks. His visual acuity was 6/18 in each eye. Examination of the right eye demonstrated a leaking macroaneurysm of the inferior temporal branch retinal artery with surrounding oedema extending to the fovea. There was mild atrophic macular degeneration of the left eye. The macroaneurysm was treated with laser photocoagulation.
The following day, the patient developed problems with movement, speech and vision which progressively worsened. A cerebral CT scan demonstrated age-appropriate atrophy only. Routine blood tests performed were all normal, including inflammatory markers. Urgent ophthalmology follow-up was arranged.
Ophthalmology review demonstrated a visual acuity that was now hand movements only in both eyes. There was no obvious ocular cause for this. There had been resolution of the leakage in the right fundus during the intervening 3 weeks. Temporal arteries were patent and non-tender. A central cause for the reduction in vision was proposed.
A home assessment was conducted 2 days later. The patient was now requiring assistance with all activities of daily living. He could no longer read or write due to the vision impairment. He had difficulties with word finding and comprehension. He had spontaneous jerking limb movements. Other examination findings were asterixis, depressed deep tendon reflexes, bilateral increased tone, dysdiadochokinesis and intention tremor.
Creutzfeldt-Jakob disease (CJD) was suspected and the patient was admitted to hospital. An electroencephalogram (EEG) demonstrated a severe and asymmetrical encephalopathy. The main feature was the presence of single and semi-periodic triphasic complexes which had a left hemispheric and posterior predominance. A repeat cerebral CT scan was unchanged. The patient developed an aspiration pneumonia and, with the likely diagnosis of CJD, a palliative approach to his care was undertaken. He died 3 weeks after admission.
Limited post-mortem examination showed a pattern of spongiosis, neuronal loss, gliosis, and immunostaining for prior protein (PrP) that is typical for the predominant sporadic form of CJD (Figure 1).
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Discussion
CJD is a rare, fatal neurodegenerative disease of the brain. The prion hypothesis presupposes that the agent responsible for CJD is an altered form (PrPSc) of a normal host-encoded glycoprotein constituent of the neuronal cell membrane (PrPC). Sporadic CJD (sCJD) is the most common form and is idiopathic.
Vision disturbance is seen in 10 to 20% cases of sCJD at presentation and up to 30 to 50% during the course of the illness [1]. Cortical blindness as an early feature of a spongiform encephalopathy was first described by Heidenhain in 1928 [2]. The term ‘Heidenhain syndrome’ usually refers to any case of CJD in which visual symptoms predominate in the early stages. The disease course of patients with the Heidenhain variant of CJD is significantly shorter compared to other patients with CJD [3].
Research suggests that the pathology in these cases shows an occipital lobe predominance, and that the EEG findings are more prominent over the occipital lobes [1]. Pathological examination of the visual pathway demonstrates loss of ganglion cells and bipolar cells in the retina, demyelination in the optic nerve, neuronal loss in the lateral geniculate body and severe degeneration in the occipital cortex.
Cerebral imaging may show basal ganglia hyperintensity on T2-weighted MRI. Recent research suggests that diffusion-weighted imaging (DWI) may be the most sensitive MRI sequence for the early detection of sCJD [4]. The CSF protein 14-3-3 is a sensitive test for the diagnosis of the classical phenotype of sCJD, characterised by short illness duration, rapidly progressive dementia and abnormal EEG, but may be falsely negative in atypical cases [5].
In patients with visual disorders of unclear or central origin and a progressive dementia the Heidenhain variant of CJD should be considered in the differential diagnosis. Although rare and universally fatal, familiarity with this condition is important because of the potential risk of inadvertent transmission, particularly via the surgical route.
None.
References
- Lueck G, McIlwaine GG, Zeidler M. Creutzfeldt-Jakob disease and the eye. II. Ophthalmic and neuro-ophthalmic features. Eye (2000) 14:291–301.[Web of Science][Medline]
- Heidenhain A. Klinische und anatomische Untersuchungen über eine eigenartige organische Erkrankung des Zentralnervensystems in Praesenium. Z Ges Neurol Psychiatry (1928) 118:49–114.
- Kropp S, Schulz-Schaeffer WJ, Finkstaedt M, et al. The Heidenhain variant of Creutzfeldt–Jakob disease. Arch Neurol (1999) 56:55–61.
[Abstract/Free Full Text] - Shiga Y, Miyazawa K, Sato S, et al. Diffusion-weighted MRI abnormalities as an early diagnostic marker for Creutzfeldt-Jakob disease. Neurology (2004) 63:442–9.
- Castellani R, Colucci M, Xie Z, et al. Sensitivity of 14-3-3 protein test varies in subtypes of sporadic Creutzfeldt-Jakob disease. Neurology (2004) 63:436–42.
[Abstract/Free Full Text]
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