ABSTRACT
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare metabolic disease caused by a specific mutation in the HADHA gene, which leads to an alteration in the metabolic pathway of fatty acids. Its most frequent form of presentation at the ophthalmological level is retinitis pigmentosa, and in some cases the ophthalmologist could be the first one to alert the other paediatric specialties to carry out a multidisciplinary approach to the case. The case is presented of a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficit detected in neonatal screening, and which clinically debuted as pigmentary retinosis with no alteration in visual acuity as observed in the fundus images and optical coherence tomography of the retina provided. Finally, a review of the literature of this potentially lethal pathology is presented, and the main pathological and clinical features are highlighted.
Subject(s)
Mitochondrial Myopathies , Nervous System Diseases , Retinitis Pigmentosa , 3-Hydroxyacyl CoA Dehydrogenases , Cardiomyopathies , Child , Humans , Infant, Newborn , Lipid Metabolism, Inborn Errors , Mitochondrial Trifunctional Protein/deficiency , Retinitis Pigmentosa/diagnosis , RhabdomyolysisABSTRACT
El déficit de 3-hidroxiacil CoA-deshidrogenasa de cadena larga es una enfermedad metabólica poco frecuente debido a una mutación específica en el gen HADHA, lo que provoca una alteración en la vía metabólica de los ácidos grasos. Su forma de presentación más frecuente a nivel oftalmológico es la retinosis pigmentaria, y en algunos casos el oftalmólogo podría ser quien alerte a las demás especialidades pediátricas para llevar a cabo un abordaje multidisciplinar del caso. Presentamos el caso de una paciente con déficit de 3-hidroxiacil CoA-deshidrogenasa de cadena larga detectado en el cribado neonatal que inició clínicamente como retinosis pigmentaria sin alteración de la agudeza visual y del que se aportan imágenes de fondo de ojo y de tomografía de coherencia óptica de la retina. Por último, se expone una revisión de la literatura de esta enfermedad potencialmente letal y se destacan las principales características anatomopatológicas y clínicas (AU)
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare metabolic disease caused by a specific mutation in the HADHA gene, which leads to an alteration in the metabolic pathway of fatty acids. Its most frequent form of presentation at the ophthalmological level is retinitis pigmentosa, and in some cases the ophthalmologist could be the first one to alert the other paediatric specialties to carry out a multidisciplinary approach to the case. The case is presented of a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficit detected in neonatal screening, and which clinically debuted as pigmentary retinosis with no alteration in visual acuity as observed in the fundus images and optical coherence tomography of the retina provided. Finally, a review of the literature of this potentially lethal pathology is presented, and the main pathological and clinical features are highlighted (AU)
Subject(s)
Humans , Female , Child, Preschool , 3-Hydroxyacyl-CoA Dehydrogenase , Mitochondrial Myopathies , Retinitis Pigmentosa/diagnosis , Cardiomyopathies , Lipid Metabolism, Inborn Errors , Mitochondrial Trifunctional Protein/deficiency , RhabdomyolysisABSTRACT
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