A case report of combined oxidative phosphorylation deficiency 35 (COXPD35) in Palestine caused by novel compound heterozygous TRIT1 variants - PubMed
3 hours ago
- #COXPD35
- #TRIT1 gene
- #Mitochondrial disorder
- First case report of Combined Oxidative Phosphorylation Deficiency 35 (COXPD35) in Palestine caused by novel compound heterozygous TRIT1 variants.
- Patient presented with seizures, neurodevelopmental delay, microcephaly, dysmorphic facial features, abnormal EEG, and thinning of the corpus callosum.
- Diagnosis confirmed via Whole-exome sequencing (WES) and Sanger sequencing, identifying two novel TRIT1 variants.
- Treatment included IV diazepam, ceftriaxone, hydrocortisone, albuterol, ipratropium bromide, hypertonic saline nebulizers, and phenytoin for seizure control.
- Patient improved clinically with cessation of seizures and recovery from pneumonia.
- Highlights the expanding phenotypic spectrum of COXPD35 and the role of WES and Sanger sequencing in diagnosis, though challenging in resource-limited settings.