Subsequent postmortem brain examination showed marked gliosis of the thalamic and inferior olivary nuclei ( figure 2A, B). The results of in-hospital radiographic and specialist investigations are summarised in table 2.ĭaT scan showing bilaterally reduced uptake of tracer in the basal ganglia. One month after admission to the hospital, her ACE score fell to 20/100. The patient had several probable seizures with eye rolling, unresponsiveness, posturing of the right arm and limb twitching. Her clinical state deteriorated rapidly she had multiple fevers of central origin and developed clinically apparent sleep apnea (although this could not be confirmed formally as she removed pulse oximetry leads). Addenbrooke’s Cognitive examination (ACE)-III revealed a score of 34/100, deficient in all domains, particularly memory and verbal fluency. There were no pyramidal, extrapyramidal or cerebellar signs. At times she appeared to have hypnopompic hallucinations. On examination, the patient had flattened affect, short-term memory impairment, ocular convergence spasm, tremor, myoclonus and severe gait apraxia. There was no neurological or otherwise relevant family history. She was 1 of 13 children, was separated from her partner and had five healthy children by two different partners. She had undergone gastric banding or a balloon procedure in Spain many years ago, was an ex-smoker and did not drink alcohol. The patient suffered from borderline diabetes mellitus and hypertension for which she took amlodipine. Patient management is with best supportive care and early suspected diagnosis allows for timely palliation.ĪNA, Antinuclear Antibodies CRP, C reactive protein CSF, cerebrospinal fluid NMDA, N-methyl-D-aspartate RBC, red blood cell RT-QuIC, real-time quaking-induced conversion TSH, Thyroid-stimulating Hormone VDRL, Venereal Disease Research Laboratory WCC, white cell count. FI is a rare human prion disease with prominent sleep disturbance, autonomic, motor, cognitive and behavioural involvement. Although usually familial, fatal insomnia (FI) also occurs in a rare sporadic form. FFI is caused by an autosomal dominant and highly penetrant pathogenic Prion Protein gene PRNP. Brain postmortem analysis revealed neuropathological changes in keeping with Fatal familial insomnia (FFI) the diagnosis was confirmed on genetic testing. The patient died from pneumonia and pulmonary embolus. Results of investigations were normal including MRI brain, electroencephalogram, cerebrospinal fluid (CSF, including CSF prion protein markers) and brain biopsy. The patient had progressive deterioration in short-term memory, ocular convergence spasm, tremor, myoclonus, gait apraxia, central fever, dream enactment and seizures. A previously well 54- year-old woman presented with a short history of diplopia, cognitive decline, hallucinations and hypersomnolence.
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