Atypical Presentation and Delayed Diagnosis of Gyrate Atrophy: Case Reports of Two Siblings

Gyrate atrophy is a hereditary condition characterized by ornithine amino transferase deficiency related large areas of retinal pigment epithelium and choriocapillaris lobular shaped atrophy in the peripherial retina. In this report, we present a case of atypical presentation of gyrate atrophy. The aim of this report is to present two siblings, one of which was associated with lamellar macular hole and with a history of previous diagnosis of retinitis pigmentosa. The delayed diagnosis of gyrate atrophy was made only after her brother, who was 5 years younger than her was diagnosed with gyrate atrophy. In addition, in this report, we evaluated gyrate atrophy in terms of multimodal imaging findings, differential diagnosis and treatment of macular complications.

Succinyl-CoA: 3-Ketoacid CoA-Transferase Deficiency in a Saudi Girl

Objective: Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare genetic disorder of ketone utilization and isoleucine catabolism caused by mutations in the OXCT1 gene, Case: A Saudi girl case of SCOT deficiency confirmed by genetic analysis has been reported in this study. A 5-year-old girl presented to the emergency with the first episode of severe metabolic ketoacidosis after a febrile illness. On admission, she was drowsy lethargic, and severely dehydrated needs to admit in a highly dependent area. Initial investigations were done during the crisis showed refractory severe metabolic acidosis (pH of 7.18, HCO3- of 7.4 mmol/L), normal ammonia, lactic acidosis, and urine organic acid profile revealed elevations in 3-hydroxybutyrate and acetoacetate. Genetic analysis was done by CentoMito Comprehensive (Large extended screening panel), sequencing of OXCT1 gene revealed that the proband is homozygous for the missense likely pathogenic variant c.1402C>T p.(Arg468Cys) confirming the diagnosis of SCOT deficiency. Conclusion: This is the first Saudi child with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency case report as searched in the literature. This case highlights the importance of suspecting SCOT deficiency in the differential diagnosis of pediatric metabolic ketoacidosis in preventing life-threatening of severe Metabolic ketoacidosis