/lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

Rare Disease

MONDO:0014976

Also Known As

COXPD31MIPEP combined oxidative phosphorylation deficiencycombined oxidative phosphorylation deficiency 31combined oxidative phosphorylation deficiency caused by mutation in MIPEPcombined oxidative phosphorylation deficiency type 31

Definition

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.