RESUMO
We report the first Palestinian child manifesting with 3-methylglutaconic aciduria psychomotor delay, muscle hypotonia, sensori-neural deafness, and Leigh-like lesions on brain magnetic resonance imaging (MRI), a clinical phenotype that is characteristic of MEGDEL syndrome. MEGDEL syndrome was recently found to be caused by mutations in SERAC1, encoding a protein essential for mitochondrial function, phospholipid remodeling, and intracellular cholesterol trafficking. We identified a novel homozygous mutation in SERAC1 gene (c.1018delT) that generates frame shift and premature termination of protein translation. Plasma and cerebrospinal fluid lactate, plasma alanine, and respiratory chain complexes in fresh muscle were normal. This report further expands the genetic spectrum of MEGDEL syndrome and adds to the evidence that it is associated with variable patterns of respiratory chain abnormalities.
Assuntos
Hidrolases de Éster Carboxílico/genética , Perda Auditiva Neurossensorial/genética , Doença de Leigh/genética , Transtornos das Habilidades Motoras/genética , Hipotonia Muscular/genética , Mutação/genética , Árabes , Consanguinidade , Perda Auditiva Neurossensorial/complicações , Humanos , Lactente , Doença de Leigh/complicações , Imageamento por Ressonância Magnética , Masculino , Transtornos das Habilidades Motoras/complicações , Hipotonia Muscular/complicaçõesRESUMO
Propionic acidemia manifesting with hyperglycemia is rare. Few cases have been reported mainly of the neonatal-onset form associated with high mortality. We report a 9-month-old Palestinian boy who manifested with coma, severe hyperglycemia and ketoacidosis mimicking diabetic ketoacidosis. Family history of unexplained infant deaths was helpful in reaching the correct diagnosis. In response to therapy, the patient regained consciousness without neurologic deficits and had normal examination. This is, to our knowledge, the first case report of late-onset propionic acidemia that had this presentation and survived.