ICNC Abstracts, ICNC 2018

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A case of De Novo NAA10 mutation presenting with eyelid myoclonias (AKA Jeavons syndrome)
Vinod Valentine

Last modified: 2018-09-09

Abstract


 

 

 

Introduction

Ogden syndrome is rare neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, neonatal hypotonia progressing to hypertonia and diffuse cerebral atrophy. Defects in NAA10 have been delineated to cause Ogden syndrome. Seizures have been reported in a few cases with no clear seizure phenotype. We report an unusual seizure phenotype in a girl with de novo NAA10 pathogenic variant.

 

Methods-Case report with chart review

Case description

A 3-year-old girl with developmental delay presented with seizures. Her examination was significant for bilateral fifth finger clinodactyly, mild ptosis,down slanting palpebral fissures, tented upper lip,mild generalized hypotonia and decreased muscle bulk. Her initial seizures were described as eye rolling and blank stares with eyes half open every two to three minutes with no generalized or focal body twitching.

Results-

EEG captured eyelid myoclonias with or without absence seizures.Targeted exome sequencing (TES) identified a de novo likely pathogenic variant in the NAA10 gene (c.346C>T, p. Arg116Trp).

Conclusion

This case is unique in that it occurred in a female with minimal characteristic facial abnormalities associated with Ogden syndrome and presenting with eyelid myoclonias, which is considered as a unique seizure phenotype within the generalized genetic epilepsy population. Her epilepsy is consistent with Jeavons syndrome, except for her cognitive impairment prior to the onset of epilepsy and negative family history.This case emphasizes the importance of highlighting the epilepsy phenotype in NAA10 pathogenic variants and expanding the clinical spectrum of the disorder to increase awareness about this condition.

 

 

 


Keywords


Eyelid Myoclonia,Ogden syndrome, Jeavon syndrome

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