6533b7d3fe1ef96bd1260aa6

RESEARCH PRODUCT

Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiency.

B. WaltherR. BoorBernd ReitterR. Rochels

subject

Malecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyCongenital lactic acidosisRetinal ganglionInternal medicineMedicineHumansNADH NADPH OxidoreductasesOptic nerve hypoplasiaRetinaElectron Transport Complex IEpilepsybusiness.industryInfant NewbornBrainRetinal VesselsOptic NerveAplasiamedicine.diseaseHypoplasiaMitochondriabody regionsEndocrinologymedicine.anatomical_structureLactic acidosisPediatrics Perinatology and Child HealthOptic nerveAcidosis LacticbusinessTomography X-Ray Computed

description

A newborn male with mitochondrial complex I deficiency suffered from neonatal epileptic seizures, which later developed into infantile spasms. The infant was blind due to aplasia of the retinal vessels and hypoplasia of the optic nerve. There was congenital lactic acidosis, which persisted in later life. The boy was microcephalic and retarded. Muscular hypotonia later shifted to spasticity. Succinic acid was increased in urine. We assume that the aplasia of the retinal vessels is due to damage of the retinal ganglion cells caused by the mitochondrial disease in the first 3 to 4 months of pregnancy.

10.1007/bf01957758https://pubmed.ncbi.nlm.nih.gov/1396914