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Super-refractory status epilepticus related to COVID-19 in a paediatric patientwith PRRT2 mutation Volume 23, numéro 6, December 2021

TEST YOURSELF

(1) Which features in this case are compatible with the diagnosis of FIRES (febrile infection-related epilepsy syndrome) and why was this discarded?

 

(2) Which manifestations comprise the classic phenotypic spectrum of PRRT2 mutation-related disorders?

 

(3) Why was COVID-19-related encephalopathy diagnosed rather than encephalitis in this case?

 

 

 

 

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Answers

(1) Although the patient’s clinical course and the bilateral hippocampal signal abnormalities on brain MRI were suggestive of FIRES (febrile infection-related epilepsy syndrome), this did not apply in her case as she had a genetic epilepsy as a predisposing condition.

 

(2) The classic phenotypic spectrum associated with PRRT2 mutation is an autosomal dominant condition with paroxysmal manifestations, such as infantile-onset self-limiting epilepsy, paroxysmal kinesigenic dyskinesia, hemiplegic migraine, paroxysmal torticollis, and episodic ataxia.

 

(3) Encephalitis is the inflammation of brain parenchyma, usually caused by an infection or by an immunological reaction. Although it is, strictly speaking, a pathological diagnosis, for practical purposes, clinical evidence of brain inflammation is accepted for the diagnosis, including CSF pleiocytosis, neuroimaging changes, or focal abnormalities on EEG. Detection of virus in the CSF per se does not provide a diagnosis of encephalitis if there is no evidence of brain inflammation. In this case, since evidence of neuroinflammation was absent, the diagnostic criteria for encephalitis were not fulfilled.

 

 

 

 

 

 

 

 

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