A Case Study of a Patient with Peroxisome Biogenesis Disorders, Seizures, and Normal VLCFA Levels
کد: G-1018
نویسندگان: Narges Hashemi ℗, Najmeh Ahangari, Bita Barazandeh Shirvan, Razie Rezaie, Ehsan Ghayoor Karimiani, Javad Akhondian, Parvaneh Layegh, Mehran Beiraghi Toosi ©
زمان بندی: زمان بندی نشده!
دانلود: دانلود پوستر
خلاصه مقاله:
background
Zellweger spectrum disorders (ZSDs) are a group of peroxisome biogenesis disorders (PBDs) with different variants in the PEX genes. The main biochemical marker for screening peroxisomal disorders is very long-chain fatty acids (VLCFAs). The study reveals a rare Iranian case with PBD and normal plasma VLCFA levels.
Methods
We report a 10-year-old girl with neurodevelopmental delay, seizures, and hearing impairment. A brain magnetic resonance imaging scan was done to determine the reason for the seizures and neurodevelopmental delay. Biochemical analysis was done to detect ZSD. The diagnosis was made using whole-exome sequencing (WES).
Findings
Here, we find a homozygous variant of uncertain significance (VUS) in PEX6 NM_000287.4: c.1992GC (p. Glu664Asp). MRI images showed a mild widening in sulci especially in frontal lobes and sylvian fissures with pachygyria in the perisylvian regions. Additionally, plasma VLCFA levels were normal.
Conclusion
According to the case report, plasma VLCFA levels can be normal in patients with peroxisome biogenesis disorders. Furthermore, based on clinical manifestations, we could re-classify c.1992GC variant in the PEX6 gene from VUS to likely pathogenic.
Key words
VLCFA,PEX6,seizure
