SHM Converge Scientific Abstract ePoster Gallery-From Gastroenteritis to Genome Sequencing: Unmasking Hidden Neurodevelopmental Disease

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This case describes a 15-month-old girl with poor weight gain who presented after a diarrheal/vomiting illness with dehydration, fatigue, abnormal eye movements, shaking, and severe ataxia. She had been previously developing normally, was born at term after an uncomplicated delivery, and had a normal newborn screen. Initial outside-hospital workup, including head CT, viral studies, blood/urine/CSF tests, and EEG, was unrevealing.  <br /><br />On exam, she was tachycardic and dehydrated, with marked truncal hypotonia, inability to sit or coordinate limb movements, abnormal eye tracking, and intact reflexes. Her GI pathogen panel was positive for enteropathogenic E. coli (EPEC). Brain MRI did not show a clear cause of symptoms. Although acute cerebellar ataxia was considered, her developmental regression and persistent neurologic findings were atypical for a routine post-infectious course.  <br /><br />Because of the concern for underlying neurodevelopmental disease, whole genome sequencing (WGS) was obtained. This revealed a pathogenic NUP214-related neurodevelopmental disorder. NUP214 variants have been associated with acute encephalopathy, developmental regression after febrile illness, hypotonia, truncal ataxia, abnormal eye movements, and seizures. MRI may be normal early in the disease course.  <br /><br />The patient improved gradually during hospitalization with supportive care and nutritional support, but remained hypotonic at discharge. The diagnosis was important for accurate prognosis and family counseling.  <br /><br />Key takeaways: clinicians should suspect a genetic cause when post-infectious neurologic recovery is prolonged, relapsing, progressive, or otherwise atypical. The case also highlights the value of genome sequencing as a first-tier test when developmental delay or regression has no clear explanation, consistent with AAP guidance.

Asset Subtitle

Initha Setiady

Meta Tag

Author List Arshiya Ahuja, Initha Setiady, James Newton, Jessica L. Guidici, Kassidy Lovins, Meghan McCarthy, Rebecca Gibson

Category Clinical Vignettes

Concept Genetic Neurodevelopmental Disorder

Concept NUP214-Related Disease

Concept Developmental regression

Concept Whole Genome Sequencing

Concept Hypotonia

Distinguished Non-Finalist

Presenter Organization University of North Carolina Hospitals

Presenting Author Initha Setiady

Track Pediatric

Keywords

NUP214

neurodevelopmental disorder

developmental regression

truncal ataxia

hypotonia

abnormal eye movements

whole genome sequencing

acute encephalopathy

post-infectious neurologic symptoms

enteropathogenic E. coli

Genetic Neurodevelopmental Disorder

NUP214-Related Disease

Developmental regression

Whole Genome Sequencing

Hypotonia