RESUMEN
Amyloid deposition can lead to Alzheimer disease and cerebral amyloid angiopathy. Rarely, it presents as a solitary focal deposition, primary cerebral amyloidoma, which can be misinterpreted as a neoplasm because of the "tumor-like" appearances. We present the case of a 54-year-old woman where MRI revealed a T2-hyperintense mass periventricular in the white matter with moderate contrast enhancement. Pathological investigation revealed AL (lambda) amyloidoma. F-florbetapir PET/CT was used to support the diagnosis and in follow-up. This case highlights that F-florbetapir PET/CT might play a role in the diagnostic workup of patients suggestive of cerebral amyloidoma, especially in cases where biopsy is not feasible.
Asunto(s)
Amiloidosis/diagnóstico por imagen , Compuestos de Anilina , Glicoles de Etileno , Tomografía Computarizada por Tomografía de Emisión de Positrones , Anciano , Amiloidosis/patología , Biopsia , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patologíaRESUMEN
We previously reported a granulin (GRN) null mutation, originating from a common founder, in multiple Belgian families with frontotemporal dementia. Here, we used data of a 10-year follow-up study to describe in detail the clinical heterogeneity observed in this extended founder pedigree. We identified 85 patients and 40 unaffected mutation carriers, belonging to 29 branches of the founder pedigree. Most patients (74.4%) were diagnosed with frontotemporal dementia, while others had a clinical diagnosis of unspecified dementia, Alzheimer's dementia or Parkinson's disease. The observed clinical heterogeneity can guide clinical diagnosis, genetic testing, and counseling of mutation carriers. Onset of initial symptomatology is highly variable, ranging from age 45 to 80 years. Analysis of known modifiers, suggested effects of GRN rs5848, microtubule-associated protein tau H1/H2, and chromosome 9 open reading frame 72 G4C2 repeat length on onset age but explained only a minor fraction of the variability. Contrary, the extended GRN founder family is a valuable source for identifying other onset age modifiers based on exome or genome sequences. These modifiers might be interesting targets for developing disease-modifying therapies.
Asunto(s)
Demencia Frontotemporal/genética , Estudios de Asociación Genética , Péptidos y Proteínas de Señalización Intercelular/genética , Mutación con Pérdida de Función , Adulto , Edad de Inicio , Anciano , Anciano de 80 o más Años , Bélgica , Dimetilhidrazinas , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Linaje , Progranulinas , PropionatosRESUMEN
We describe a 16-year-old boy with mild encephalitis with reversible lesions in the white matter and splenium of corpus callosum as a complication of an influenza B virus infection. Although more common in Asiatic children, it can also occur in Caucasian children and adults. There are several possible causes, including metabolic disorders, hypertension and infection, and the prognosis is usually good, even without treatment.
Asunto(s)
Encefalitis , Virus de la Influenza B/patogenicidad , Infecciones por Orthomyxoviridae/complicaciones , Adolescente , Cuerpo Calloso/diagnóstico por imagen , Cuerpo Calloso/virología , Encefalitis/diagnóstico por imagen , Encefalitis/etiología , Encefalitis/virología , Humanos , Imagen por Resonancia Magnética , Masculino , Infecciones por Orthomyxoviridae/diagnóstico por imagen , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/virologíaRESUMEN
OBJECTIVE: To investigate the molecular basis of a Belgian family with autosomal recessive adult-onset neuronal ceroid lipofuscinosis (ANCL or Kufs disease [KD]) with pronounced frontal lobe involvement and to expand the findings to a cohort of unrelated Belgian patients with frontotemporal dementia (FTD). METHODS: Genetic screening in the ANCL family and FTD cohort (n = 461) was performed using exome sequencing and targeted massive parallel resequencing. RESULTS: We identified a homozygous mutation (p.Ile404Thr) in the Cathepsin F (CTSF) gene cosegregating in the ANCL family. No other mutations were found that could explain the disease in this family. All 4 affected sibs developed motor symptoms and early-onset dementia with prominent frontal features. Two of them evolved to akinetic mutism. Disease presentation showed marked phenotypic variation with the onset ranging from 26 to 50 years. Myoclonic epilepsy in one of the sibs was suggestive for KD type A, while epilepsy was not present in the other sibs who presented with clinical features of KD type B. In a Belgian cohort of unrelated patients with FTD, the same heterozygous p.Arg245His mutation was identified in 2 patients who shared a common haplotype. CONCLUSIONS: A homozygous CTSF mutation was identified in a recessive ANCL pedigree. In contrast to the previous associations of CTSF with KD type B, our findings suggest that CTSF genetic testing should also be considered in patients with KD type A as well as in early-onset dementia with prominent frontal lobe and motor symptoms.