Objective: Case Report

Background: A child born to third-degree consanguineous parents presented with seizures beginning at 2.5 months of age. Over time, the child developed autistic traits, behavioural issues, obesity, hypotonia, and recurrent daily paroxysmal episodes (20-30/day) characterised by brief hyperkinetic movements, raising suspicion of paroxysmal dyskinesia versus focal seizures. Clinical examination revealed facial dysmorphism with a bulbous nasal tip, generalised hypotonia, and obesity. Brain MRI was normal, while EEG showed intermittent generalised epileptiform discharges. Family history was notable for a younger sibling with a similar phenotype, including fever-triggered seizures, autistic traits, and episodic hyperkinetic movements, suggesting a possible genetic channelopathy syndrome like GLUT1 deficiency, cerebral creatine deficiency, or paroxysmal dyskinesia syndrome. A genetic study demonstrated a homozygous pathogenic frameshift mutation in PRRT2, confirming PRRT2-associated paroxysmal neurological disorder.

Method: Case Report

Results: Case Report

Conclusion: Our case report adds to the phenotypic spectrum of PRRT2 channelopathy, presenting with a complex syndromic phenotype.

References: Landolfi A, Barone P and Erro R (2021) The Spectrum of PRRT2-Associated Disorders: Update on Clinical Features and Pathophysiology. Front. Neurol. 12:629747. doi: 10.3389/fneur.2021.629747

Döring, J.H.; Saffari, A.; Bast, T.; Brockmann, K.; Ehrhardt, L.; Fazeli, W.; Janzarik, W.G.; Kluger, G.; Muhle, H.; Møller, R.S.; et al. The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood. Biomedicines 2020, 8, 456. https://doi.org/10.3390/biomedicines8110456

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MDS Abstracts - https://www.mdsabstracts.org/abstract/expanding-the-phenotypic-spectrum-of-prrt2-channelopathy-a-homozygous-mutation-with-early-epilepsy-autism-and-dysmorphism-in-a-consanguineous-family/