MRI of the brain was initially normal. Repeat imaging 3 months later showed diffuse, non-enhancing, cerebral white matter changes (). Pre-terminally, bilateral posterior thalamic hyperintensities were noted, raising the possibility of variant Creutzfeldt–Jakob disease (vCJD; ). Cerebrospinal fluid (CSF) was acellular with an increased protein concentration of 2437 (200–400)mg/l. Oligoclonal bands were negative. Results of haematological and biochemical tests were normal, as was a full autoantibody screen including thyroid-specific antibodies. Vitamin B12, folate, copper studies, serum ammonia, lactate, pyruvate, serum and urine toxicology, urinary organic acids, very long chain fatty acids, arylsulphatase A, porphyria screen, serum and CSF anti-neuronal and anti-voltage-gated potassium channel antibodies were normal. HIV, herpes simplex virus, JC virus, treponemal and Borrelia serologies were negative, as were CSF cultures and 14-3-3 protein. EEG initially recorded a generalised slowing. Subsequently, there were continuous spike and wave discharges consistent with generalised status epilepticus and, later, a burst-suppression pattern.
Axial T2-weighted magnetic resonance imaging at 3 months showing diffuse, symmetrical white matter changes in the frontoparietal region.
The cerebral cortex and hippocampus were normal. Profound abnormality of the subcortical white matter was reported, with widespread vacuolar change in the frontal and parietal lobes ().Associated astrocytic hyperplasia was observed, but no atypia or inclusions (). The thalami showed severe vacuolar change with intense astrocytic hyperplasia (). The only other area of grey matter affected was the cerebellar dentate nucleus. The brainstem and cerebellar white matter were normal. No inflammation was seen. vCJD was excluded by negative prion protein immunohistochemistry and western blot. No plaques were seen. Histological examination of the small bowel showed partial villous atrophy consistent with coeliac disease.