A case of PRRT2 mutation with temporary cerebellar diffusion restriction that mimics acute cerebellitis

Simsekogul, Ruken and Varoglu, Asuman Orhan and Gulec, Elif Yilmaz and Aktas, Gizem Aynur and Oner, Ozge Gonul (2026) A case of PRRT2 mutation with temporary cerebellar diffusion restriction that mimics acute cerebellitis. IDEGGYOGYASZATI SZEMLE / CLINICAL NEUROSCIENCE, 79 (5-6). pp. 213-216. ISSN 0019-1442

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Abstract

Purpose – This case report presents apatient with recurrent cerebellitis attackscha­racterized by acute cerebellar diffusionrestriction due to a PRRT2 gene mutation,who demonstrated complete recovery.Case report – A 21-year-old female patientwas admitted to our hospital with imbalance,vomiting, dizziness, and speech disorder.Neurological examination showed bilateralabnormal cerebellar tests. Diffusion restriction was seen in the right cerebellar hemisphere, and hyperintensity was seen in thesame regions on the T2-Flair MRI sequence.The viral panel, culture, and biochemistryof cerebrospinal fluid (CSF) examinationswere all within normal ranges. We diagnosed the patient with acute cerebellitis.A three-month corticosteroid treatmentregimen was initiated after the first episode,and subsequent relapses were managedsimilarly. The patient’s MRI results and clinical findings both fully improved. However,two more attacks were documented in thepatient’s history like the other attacks. Thepatient experienced recurring episodes andhas a history of infantile epilepsy. Wholeexome sequencing revealed compoundheterozygous pathogenic PRRT2 variants:he­terozygous c.649dupC (p. Arg217Profs*8)and a heterozygous 16p11.2 microdeletionencompassing PRRT2 gene.Conclusion – Biallelic pathogenic PRRT2variants usually cause a severe phenotypecompared to monoallelic variants. PRRT2should be considered in cases of episodic movement disorders with reversible cerebellar diffusion restriction, as they may underlierecurring acute cerebellitis episodes. Longterm monitoring may be crucial for management.

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