Author/Authors :
KARIMZADEH, Parvaneh Pediatric Neurology Research Center - Research Institute for Children’s Health - Shahid Beheshti University of Medical Sciences, Tehran, Iran , KERAMATIPOUR, Mohammad Department of Medical Genetics - School of Medicine - Tehran, Iran University of Medical Sciences, Tehran, Iran , KARAMZADE, Arezou Department of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , POURBAKHTYARAN, Elham Pediatric Neurology Research Center - Research Institute for Children’s Health - Shahid Beheshti University of Medical Sciences, Tehran, Iran
Abstract :
Succinate dehydrogenase (SDH) deficiency is a rare autosomal
recessive neurometabolic disorder that causes brain insult,
neurodevelopmental delay, exercise intolerance, and cardiomyopathy.
A 25-month-old boy was referred to our neurometabolic center due
to developmental regression after injecting the influenza vaccine
when he was 10 months old. Magnetic resonance imaging (MRI)
showed high signal changes in the brain white matter, and magnetic
resonance spectroscopy (MRS) detected a high succinate peak at 2.4
parts per million (ppm). The evaluation of urine organic acids showed
a significant elevated succinic acid and whole exome sequencing,
confirming SDH. Treatment with a mitochondrial cocktail was
initiated, and remarkable improvement was observed.
SDH deficiency as a treatable neurometabolic disorder should be
considered in any patients with developmental disorders, accompanied
by hyperintensity in white matter (as similar to leukodystrophia).
Further evaluation is recommended since outcomes depend on early
diagnosis and treatment.
