Creutzfeldt - Jakob presenting with isolated visual symptoms: The Heidenhain variant

Servicio de Oftalmología, Hospital de Infanta Cristina, Parla, Madrid, España.
Archivos de la Sociedad Espanola de Oftalmologia 10/2010; 85(10):341-4. DOI: 10.1016/S2173-5794(10)70056-6
Source: PubMed


CLINICAL CASE: We report the case of a 67 year old female complaining of decreased vision and diagnosed with the Heidenhain variant of sporadic Creutzfeldt-Jakob disease. Her past medical history was unremarkable. She died less than three months after the onset. DISCUSSION: The Heidenhain variant of sporadic Creutfeld-Jakob disease should be suspected in patients suffering from early visual disturbances, unremarkable ophthalmic examination, and subsequent rapid decline of their cognitive function. A complete neurological exam including electroencephalogram recordings and magnetic resonance is mandatory. These patients share a common genotype (PRNP codon 129 MM) associated with a clinically typical disease course.

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    • "Since 1954, similar cases have been described, most often as small case series[11,131415161718or individual case reports19202122232425262728293031323334353637and referred to as the Heidenhain variant of CJD[38]. To date, molecular and histopathological analyses have been performed in 23 cases with this clinical presentation, and the large majority (22 out of 23) belonged to the MM-MV1 sCJD type[11,13,16,34,35]. In a single case, however, the Heidenhain variant has also been linked to the MM 2C type, which has widened the molecular basis and histotype classification of this peculiar clinical phe- notype[29]. "
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    ABSTRACT: The Heidenhain variant defines a peculiar clinical presentation of sporadic Creutzfeldt-Jakob disease (sCJD) characterized by isolated visual disturbances at disease onset and reflecting the early targeting of prions to the occipital cortex. Molecular and histopathological typing, thus far performed in 23 cases, has linked the Heidenhain variant to the MM1 sCJD type. To contribute a comprehensive characterization of cases with the Heidenhain variant, we reviewed a series of 370 definite sCJD cases. Eighteen patients (4.9% ) fulfilled the selection criteria. Fourteen of them belonging to sCJD types MM1 or MM1+2C had a short duration of isolated visual symptoms and overall clinical disease, a high prevalence of periodic sharp-waved complexes in EEG, and a marked increase of cerebrospinal fluid proteins t-tau and 14-3-3 levels. In contrast, three cases of the MM 2C or MM 2+1C types showed a longer duration of isolated visual symptoms and overall clinical disease, non-specific EEG findings, and cerebrospinal fluid concentration below threshold for the diagnosis of "probable" CJD of both 14-3-3 and t-tau. However, a brain DWI-MRI disclosed an occipital cortical hyperintensity in the majority of examined cases of both groups. While confirming the strong linkage with the methionine genotype at the polymorphic codon 129 of the prion protein gene, our results definitely establish that the Heidenhain variant can also be associated with the MM 2C sCJD type in addition to the more common MM1 type. Likewise, our results highlight the significant differences in clinical evolution and laboratory findings between cases according to the dominant PrPSc type (type 1 versus type 2).
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