title: [Maculopathy in hereditary metabolic diseases].
abstract: It was effected one study for fifteen children between two month and six years old with different diseases MDH (metabolic hereditary diseases) GM2 (Tay-Sachs and Sandhoff) (amaurotic idiocy), ceroid lipofuscinosis (Spielmeyer-Vogt-Batten-Mayou). Leigh maladie and other forms by MHD with unspecified diagnosis. It was effected neurologic exam, enzymatic measures, conjunctival biopsy, ophthalmologic exam with electroretinogram and evoked potentials. It was found an important element by differential diagnosis between gangliosidosis with normal ERG and ceroid lipofuscinosis with perturbate ERG. ERG is frequent precocious adulterated.
authors.affiliation: Clinique Fondation Lambert, Bruxelles.
authors.forename: B
authors.initials: B
authors.lastname: Stănescu-Segall
mesh_terms: D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005260:Female; D006801:Humans; D007223:Infant; D008266:Macula Lutea; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis; D009887:Ophthalmoscopy; D012164:Retinal Diseases / Q000175:diagnosis / Q000209:etiology*
vernacular_title: Maculopatia in bolile ereditare metabolice.