Abstract
BackgroundProgressive encephalomyelitis with rigidity and myoclonus (PERM) syndrome is a rare neurological condition. Its clinical characteristics include axial and limb muscle rigidity, myoclonus, painful spasms and hyperekplexia. Diagnosis of this disease can be very challenging and optimal long-term treatment is unclear.Case presentationWe report a case of a 62 year old patient admitted for repetitive myoclonus and rigidity in the lower limbs progressing since 10 years, associated with a fluctuating encephalopathy requiring stays in Intensive Care Unit. Multiple diagnostics and treatment were proposed, unsuccessfully, before the diagnosis of PERM syndrome was established. In association with the clinical presentation, a strong positive result for GAD (glutamic acid decarboxylase) antibodies lead to the diagnosis of PERM syndrome.ConclusionsPERM syndrome is a rare disease and its diagnosis is not easy. Once the diagnosis is established, the correct treatment should follow and could be lifesaving, regardless of a delayed diagnosis. Maintenance of long-term oral corticotherapy is suggested to prevent relapses.
Highlights
Progressive encephalomyelitis with rigidity and myoclonus (PERM) syndrome is a rare neurological condition
The episode of myoclonus presented by our patient in 2014, associated with hyperthermia, was considered as an episode of neuroleptic malignant syndrome (NMS)
It was previously reported by Xu et al that PERM could be mimicking NMS due to its significant overlap in symptoms [17]
Summary
PERM syndrome is a rare disease and its diagnosis is not easy. Once the diagnosis is established, the correct treatment should follow and could be lifesaving, regardless of a delayed diagnosis. Maintenance of long-term oral corticotherapy is suggested to prevent relapses
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