[An unrecognized cause of dyspnoea]. / Een miskende oorzaak van dyspneu.

BACKGROUND: Neuralgic amyotrophy is characterised by pain in the neck or shoulder region, followed by neuropathy of both motor and sensory nerves of the brachial plexus. The incidence of this condition is estimated at 1/1000 per year. In a rare variant of the syndrome, involvement of both phrenic nerves can occur, leading to diaphragmatic paralysis and severe orthopnoea. CASE DESCRIPTION: A 67-year-old woman was referred to us with acute orthopnoea. Imaging studies showed bilateral diaphragmatic paralysis, and electromyography (EMG) confirmed neuropathy of both phrenic nerves. The diagnosis was bilateral neuralgic amyotrophy. The patient received nocturnal ventilation support via nasal high flow oxygen therapy. This symptomatic treatment had a positive effect. CONCLUSION: Isolated phrenic nerve neuropathy is a rare variant of neuralgic amyotrophy, leading to orthopnoea. Recovery is slow and frequently incomplete. Supportive treatment with non-invasive ventilation support is necessary to improve the patient's quality of life.

EEG abnormalities in poikilothermia suggesting Creutzfeldt-Jakob disease.

A 87-year-old woman was admitted with a rapidly progressive confusion, disorientation and myoclonus, all suggestive of sporadic Creutzfeldt-Jakob disease (sCJD). This diagnosis was initially strongly supported by the EEG, which showed slow background activity and triphasic waves, combined with the finding of an increased level of 14-3-3 protein in the cerebrospinal fluid. Remarkably, this patient had also developed hypothermia, which, after warming-up, resulted in alleviation of the mental disturbances and disappearance of myoclonus. Over time, the EEG abnormalities disappeared. She recovered clinically for which reason the diagnosis of sCJD had to be rejected; however, she kept the inability to maintain body temperature (poikilothermia). Therefore, in patients with the aforementioned symptoms body temperature should be measured and adequately managed. Our hypothesis is that she suffered from a misleading acquired encephalopathy with reversible EEG and laboratory features, mimicking sCJD. When laboratory findings suggest sCJD it remains very important to see whether or not these findings are compatible with the clinical observations.