ESPN 51th Annual Meeting

ESPN 2018


 
Congenital nephrotic syndrome and Early myoclonic epilepsy in a patient with CoQ10 deficiency caused by mutations in COQ2
GÖKÇE GÜR 1 ÇIĞDEM KASAPKARA 1 FEHIME KARA EROĞLU 1 MEHMET BÜLBÜL 1

1- DEPARTMENT OF PEDIATRIC NEPHROLOGY, DR SAMI ULUS MATERNITY AND CHILD HEALTH AND DISEASES TRAINING AND RESEARCH HOSPITAL
 
Introduction:

 

Coenzyme Q10 deficiency is a clinically and genetically heterogeneous disorder, with manifestations that may range from fatal neonatal multisystem failure, to adult-onset encephalopathy. We report a patient who presented at 35 day of life with congenital nephrotic syndrome, lactic acidosis, hyponatremia, dicarboxylic aciduria, and myoclonic seizure.

In the family history, death of 2 sibling with suspicious metabolic disorders.

The autopsy report of the first sibling was mitochondrial cytopathy, renal histology was FSGS.  Due to her family history, she was supplemented with CoQ10 (30 mg/kg/day).  In the genetic analysis performed as a c.437G>A homozygous in the CoQ2 gene.

Although the short-term tonic clonic seizure persisted after the treatment,

she had renal response with CoQ10.

Material and methods:

Results:

Conclusions: