ABSTRACT
Fundamento: La demencia frontotemporal es un trastorno degenerativo caracterizado por disturbios cognitivos o del comportamiento debido a la atrofia de los lóbulos frontales y temporales anteriores. No se han descrito casos que ocurran a partir de un evento vital estresante. Objetivo: Presentar un paciente con demencia frontotemporal que debuta después de un evento vital y que implica una peculiaridad para el diagnóstico y el manejo de estos pacientes así como para la posible relación causal. Presentación del caso: Paciente de 47 años con antecedentes de salud anterior y no antecedentes familiares de demencia o trastornos neurológicos que, inmediatamente después de un evento vital como lo fue la muerte de su hijo, desarrolla síntomas compatibles con una psicosis aguda y una depresión asociados a profundos trastornos de la conducta y del lenguaje típicos de una demencia frontotemporal. Las imágenes de resonancia magnética nuclear confirmaron la atrofia frontotemporal. Trascurrieron menos de dos años desde el primer síntoma hasta el diagnostico de la demencia. Conclusiones: A pesar de las evidencias morfológicas y epidemiológicas en contra, la posible relación causal entre los eventos vitales estresantes y el desarrollo ulterior de una demencia no deben descartarse.
Background: Frontotemporal dementia is a degenerative disorder characterized by atrophy of frontal and anterior parietal lobes. Cases of frontotemporal dementia that occur after a stressful life event have not been described. Objective: To present a case of frontotemporal dementia that took place after a stressful life event and implies a peculiarity for diagnosis and management of these patients and for the causal relationship. Case report: A 47 year-old male, previously healthy, and without a family history of dementia or neurological diseases, immediately after a stressful life event such as the death of his son, developed symptoms compatible with an acute psychosis or depression associated with severe behavioral and language disorders typical of a frontotemporal dementia. Magnetic Resonance Imaging study confirmed the diagnosis of frontotemporal dementia. Less than two years passed from the first symptom until the diagnosis of dementia. Conclusions: In spite of morphological and epidemiological evidences against, the possible causal relation between the stressful life events and the onset of dementias can not be ruled out and deserve a deeper study.
Subject(s)
Humans , Frontotemporal Dementia , Life Change EventsABSTRACT
Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly at birth or shortly after birth and various neurologic symptoms. Between the first weeks and the 4-5th year of life, intercurrent illness such as viral infections, gastroenteritis, or even routine immunizations can trigger acute encephalopathy, causing injury to caudate nucleus and putamen. But intellectual functions are well preserved until late in the disease course. We report a one-month-old male infant with macrocephaly and hypotonia. In brain MRI, there was frontotemporal atrophy(widening of sylvian cistern). In metabolic investigation, there were high glutarylcarnitine level in tandem mass spectrometry and high glutarate in urine organic acid analysis, GA1 was confirmed by absent glutaryl-CoA dehydrogenase activity in fibroblast culture. He was managed with lysine free milk and carnitine and riboflavin. He developed well without a metabolic crisis. If there is macrocephaly in an infant with neuroradiologic sign of frontotemporal atrophy, GA1 should have a high priority in the differential diagnosis. Because current therapy can prevent brain degeneration in more than 90% of affected infants who are treated prospectively, recognition of this disorder before the brain has been injured is essential for treatment.