Variant Creutzfeldt Jacob disease: the second case in Portugal and in the same geographical region

Abstract

We present the second variant Creutzfeldt-Jacob patient in the same district of northwest Portugal as was previously reported. A 14-year-old previously healthy girl had unexplained pain in the left leg, as well as psychiatric disturbances. This was shortly followed by progressive cognitive impairment, ataxia and generalised choreoatethosis. Neuropsychological assessment revealed severe frontal and medial temporal dysfunction, the posterior cortices being spared. An electroencephalogram was normal. CSF 14.3.3 protein was slightly positive. Magnetic resonance imaging showed the "hockey stick sign" and hyperintensities in the periaquedutal grey matter and in the right parietal cortex, the last with restriction to water molecule movement. SPECT revealed perfusion defects in the left frontotemporal and right parietal regions. PRNP gene sequencing showed no mutations, the patient being homozygous to methionine in codon 129. Five months after onset, immunocytochemical and immunoblotting analysis confirmed deposition of prion protein and a PrP4t electrophoretic pattern. The patient never travelled outside Portugal or received blood transfusions. She had surgical herniorrhaphy in 1998 (when catgut was used) and 2003. This is the second case in Portugal in a 2-year period and 20 km apart from each other, with no known common exposure apart from ingestion of cow meat. We discuss these case peculiarities and underline its epidemiological significance.

Variant Creutzfeldt-Jakob disease: the first confirmed case from Portugal shows early onset, long duration and unusual pathology

“…His clinical course (32 months) was the longest of any case published to date with autopsy results, although the range of survival times has been reported as 9–39 months1 and one patient treated with intraventricular pentosan sulfate has been reported as alive after 51 months 2. A second case has subsequently been diagnosed by tonsilar biopsy in Portugal3 but is still living. It is of interest that the two patients lived within 20 km of each other.…”

CSF Tau proteins reduce misdiagnosis of sporadic Creutzfeldt–Jakob disease suspected cases with inconclusive 14-3-3 result

“…Herein, we only report the results from the patients for whom a confirmatory diagnosis was available: 95 neuropathologically confirmed sporadic CJD (sCJD) and 287 patients proved to have an alternative diagnosis (non-CJD), as this was our inclusion criteria. Therefore, all probable and possible cases as well as the two cases of variant CJD [32] and three of Fatal Familiar Insomnia (Santana et al, personal communication) that have been identified in our population, were excluded from this study.…”

“Hot Cross Bun” Sign in Variant Creutzfeldt-Jakob Disease: Fig 1.

“…A 16-year-old girl, diagnosed with vCJD at age 14 years and described in detail elsewhere, 3 had progressive clinical deterioration, leading to a persistent vegetative state. MR imaging at 18 months after onset of the disease showed global brain atrophy and widespread restricted cortical diffusion (Fig 1A).…”