ABSTRACT
CLINICAL CASE: 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. DISCUSSION: 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.
Subject(s)
Cardiomyopathies , Lipid Metabolism, Inborn Errors , Mitochondrial Myopathies , Mitochondrial Trifunctional Protein/deficiency , Nervous System Diseases , Rhabdomyolysis , Cardiomyopathies/diagnostic imaging , Child, Preschool , Humans , Lipid Metabolism, Inborn Errors/diagnostic imaging , Male , Mitochondrial Myopathies/diagnostic imaging , Nervous System Diseases/diagnostic imaging , Rhabdomyolysis/diagnostic imagingABSTRACT
En el movisimo campo de las células troncales ("stem cell") y la medicina regenerativa, la búsqueda del Santo Grial de la investigación científica, es la recreacion o la inducción del renacimiento de un órgano funcional, llamese hígado, retina o riñon. En un extremo el hígado de Prometeo, de inherente capacidad para regenerarse, la demanda del órgano excede en mucho la disponibilidad de donantes. En Estados Unidos de America, 9% de los pacientes con insuficiencia hepática fallecen a la espera de un trasplante, así que la investigación en tratamientos regenerativos nunca ha tenido más fundamento y adquirido más énfasis que en estos tiempos. En el otro extremo, la retina, inexplicable olvido de la naturaleza, como otras neuronas del sistema nervioso incapaz de regenerarse a sí misma y hasta ahora, inmune a la neuroprotección y reparación después de una injuria. No obstante en un futuro no muy lejano será posible preservar y restaurar la visión en personas en las que se encuentre amenazada o se haya perdido por enfermedad o injuria del nervio óptico
In the newest field of stem cells and regenerative medicine, the quest for the Holy Grail of scientific research is the recreation or induction of rebirth of a functional organism, such as the liver, retina o kidney. At one end liver of Prometheus with its inherent capacity to regenerate, has a demand that greatly exceeds the availability of donors. In the United States of America, 9% of patients with liver failure die waiting for a transplant, so research in regenerative treatment has never had more importance or acquired greater emphasis than at this time. At the other end, the retina, inexplicable oblivion of nature, is, as other neurons of the central nervous system, unable to regenerate itself and so far, immune to neuroprotection and repair after an injury. Nevertheless, in the future it will be possible, however, to preserve and restore vision in people whose optic nerve are threatened or have been lost due to illness or injury
