Diagnosing late-onset PKU in the shadow of refractory seizures

Diagnosing late-onset PKU in the shadow of refractory seizures

Phenylketonuria (PKU), a rare autosomal recessive metabolic disorder, often presents with severe neurological complications if untreated, but late diagnosis can mimic other conditions such as Febrile Infection-Related Epilepsy Syndrome (FIRES). This report discusses a 10-year-old male initially misd...

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Bibliographic Details
Main Authors: Ameer Awashra, MD, Haroun Neiroukh, MD, Aya Milhem, MD, Dawoud Hamdan, MD, Asmaa Sarama, MD, Tasneem Dweikat, MD, Alaa Hmeedan, MD, Samih Khader, MD
Format: Article
Language:English
Published: Elsevier 2025-05-01
Series:Radiology Case Reports
Subjects:
FIRES
PKU
Status epilepticus
Online Access:http://www.sciencedirect.com/science/article/pii/S1930043325001372
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