title: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.
abstract: METHODS
  A five-year-old patient, with a diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, was referred for an ophthalmological examination. He had a history of acute metabolic crises precipitated by intercurrent infections,as well as rhabdomyolysis. The fundoscopic examination revealed a peripapillary chorioretinal atrophy and a diffuse granular appearance of the macular retinal pigment epithelium. Best corrected visual acuity was 6/6 in both eyes, and he had a normal electroretinography test.
  
  
  CONCLUSIONS
  We perform a review of the literature and recent findings in relation to this disease through the description of a clinical case in order to improve the knowledge of this uncommon disorder.
authors.affiliation: Máster en Oftalmología Pediátrica, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, España. Electronic address: drallorca@gmail.com.
authors.forename: A
authors.initials: A
authors.lastname: Llorca-Cardeñosa
authors.affiliation: Sección de Retina y Vítreo, Departamento de Oftalmología Pediátrica, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, España.
authors.forename: J
authors.initials: J
authors.lastname: Català-Mora
authors.affiliation: Departamento de Neuropediatría, Unidad de Enfermedades Metabólicas, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, España.
authors.forename: A
authors.initials: A
authors.lastname: García-Cazorla
authors.affiliation: Sección de Gastroenterología, Hepatología y Nutrición Infantil, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, España.
authors.forename: S
authors.initials: S
authors.lastname: Meavilla
authors.affiliation: Sección de Gastroenterología, Hepatología y Nutrición Infantil, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, España.
authors.forename: E
authors.initials: E
authors.lastname: Castejón-Ponce
mesh_terms: D009202:Cardiomyopathies / Q000000981:diagnostic imaging; D002675:Child, Preschool; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000000981:diagnostic imaging; D008297:Male; D017240:Mitochondrial Myopathies / Q000000981:diagnostic imaging; D063991:Mitochondrial Trifunctional Protein / Q000172:deficiency*; D009422:Nervous System Diseases / Q000000981:diagnostic imaging; D012206:Rhabdomyolysis / Q000000981:diagnostic imaging
chemical_list: D063991:Mitochondrial Trifunctional Protein
keywords: Chorioretinopathy; Coriorretinopatía; Déficit de 3-hidroxiacil-CoA deshidrogenasa de cadena larga; Fatty acid; Gen HADHA; HADHA gene; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Neural retina; Retina neural; Ácidos grasos