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Brain 18F-FDG PET showing striatal hypometabolism in a case of chorea-acanthocytosis
Hipometabolismo estriatal detectado por 18F-FDG PET cerebral en un caso de corea-acantocitosis
a Servicio de Medicina Nuclear, Hospital Universitari Son Espases, Palma de Mallorca, Spain
b Instituto de Investigación Sanitaria de Palma (IdISPa), Palma de Mallorca, Spain
c Servicio de Neurología, Hospital Universitari Son Espases, Palma de Mallorca, Spain
d Servicio de Radiología, Hospital Universitari Son Espases, Palma de Mallorca, Spain
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RM fast spin echo T2, corte axial al nivel de los núcleos basales, con muy leve disminución del tamaño de los caudados, sin otras alteraciones estriatales. B. PET-FDG, corte axial, con intenso hipometabolismo estriatal bilateral de ligero predominio en caudados. C. También se objetivó un hipometabolismo temporal anteromesial derecho (flecha), de significado fisiopatológico incierto, y del cual se especuló que pudiera estar en relación con las crisis comiciales y las alteraciones por EEG. Los mapas 3D-SSP de comparación de la imagen PET con controles sanos (software Cortex ID, General Electric) objetivan las alteraciones metabólicas estriatales —vistas mediales (D)— y temporal derecha —vista inferior (E)— arriba descritas.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "S. Rubí, M. Oporto, A. García, I. Legarda, M.J. Picado, C. Peña" "autores" => array:6 [ 0 => array:2 [ "nombre" => "S." "apellidos" => "Rubí" ] 1 => array:2 [ "nombre" => "M." 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Immunohistochemically, the tumor was positive for pan-cytokeratin (B), CD3(C), LCA and CD20(D). The in situ hybridization for EBV-encoded small RNAs showed an intensive nuclear hybridization signal corresponding to the carcinoma cells (E). Additionally, the carcinoma had a high Ki67 index (>80%; F).</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Y. Zhang, B. Li, J. Hou, L. Cai, H. Shi" "autores" => array:5 [ 0 => array:2 [ "nombre" => "Y." "apellidos" => "Zhang" ] 1 => array:2 [ "nombre" => "B." "apellidos" => "Li" ] 2 => array:2 [ "nombre" => "J." "apellidos" => "Hou" ] 3 => array:2 [ "nombre" => "L." "apellidos" => "Cai" ] 4 => array:2 [ "nombre" => "H." 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"apellidos" => "Peña" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] ] "afiliaciones" => array:4 [ 0 => array:3 [ "entidad" => "Servicio de Medicina Nuclear, Hospital Universitari Son Espases, Palma de Mallorca, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Instituto de Investigación Sanitaria de Palma (IdISPa), Palma de Mallorca, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servicio de Neurología, Hospital Universitari Son Espases, Palma de Mallorca, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Servicio de Radiología, Hospital Universitari Son Espases, Palma de Mallorca, Spain" "etiqueta" => "d" "identificador" => "aff0020" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Hipometabolismo estriatal detectado por <span class="elsevierStyleSup">18</span>F-FDG PET cerebral en un caso de corea-acantocitosis" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1931 "Ancho" => 2500 "Tamanyo" => 346000 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) MRI Fast Spin Echo T2, axial slice showing minimal size decrease of caudate heads, without other striatal abnormalities. (B) <span class="elsevierStyleSup">18</span>F-FDG PET, axial slice, shows marked bilateral striatal hypometabolism, slightly more prominent in caudates. (C) Right anteromesial temporal hypometabolism was also observed (arrow), which might be related to the epileptic seizures and the EEG abnormalities, although its precise physiopathological explanation remains unknown. 3D-SSP maps comparing our PET image with healthy controls (Cortex ID software, General Electric) also reveal the above described striatal (medial view, D) and right temporal (inferior view, E) metabolic alterations.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">A 32-year-old man with 1–2 year history of possible cognitive and behavioral decline, in the form of verbal and visual memory loss and disinhibition, was referred to our center. He had also been diagnosed of probable epilepsy 5 years ago, because of several episodes of loss of consciousness. On his admission, he showed inappropriate behavior with disinhibition and perseverative features, as well as an attentional-executive deficit and mild memory impairment. Electroencephalogram showed possible left temporal subclinical seizures.</p><p id="par0010" class="elsevierStylePara elsevierViewall">Magnetic resonance imaging showed a very slight unspecific hyperintensity in amygdaline nucleus and hippocampus bilaterally, along with a certain loss of size of both caudate nuclei heads. Serum autoimmunity markers (including antineuronal antibodies) and serology for HIV, lues and Brucella were negative. Peripheral blood smear showed isolated acanthocytes. A remarkable elevation of serum creatine-kinase (CK), which had already been observed in previous blood tests, was also found. An electromyography and a muscle tissue biopsy were performed, and revealed denervation atrophy with mild collateral reinnervation.</p><p id="par0015" class="elsevierStylePara elsevierViewall">Genetic testing revealed 28 and 30 trinucleotide CAG repeats, which were considered negative for Huntington disease (HD). Such a diagnostic uncertainty led clinicians to request a cerebral <span class="elsevierStyleSup">18</span>F-FDG PET, which showed a severe bilateral, diffuse and symmetric striatal hypometabolism, highly suggestive of neurodegenerative striatal neuronal loss. A much less prominent right temporal anteromesial hypometabolism was also noticed. After having ruled out HD, and taking into consideration the other clinical and complementary data, a neuroacanthocytosis type disorder was suspected.</p><p id="par0020" class="elsevierStylePara elsevierViewall">The term “neuroacanthocytosis” accounts for a group of rare hereditary disorders that share the features of basal ganglia neurodegeneration, neuromuscular manifestations and spiculated erythrocytes (acanthocytes) in peripheral blood.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">1</span></a> One of these entities is chorea-acanthocytosis, which is inherited in an autosomal recessive manner and is caused by mutations in the gene encoding the chorein, a protein being expressed in many tissues including the erythrocyte membrane. Despite not exhibiting an evident movement disorder, our patient had other chorea-acanthocytosis typical features, as epileptic seizures, frontal cognitive decline, suggestive electromyographical and histopathological findings, and elevated serum CK levels. The <span class="elsevierStyleSup">18</span>F-FDG PET findings suggesting striatal neurodegeneration were crucial in the course of the diagnostic work-up (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>).<a class="elsevierStyleCrossRefs" href="#bib0025"><span class="elsevierStyleSup">2,3</span></a> A Western Blot analysis with antichorein antisera was finally performed, showing absence of chorein on patient's erythrocyte membranes, which was considered a confirmatory finding of chorea-acanthocytosis.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Rubí S, Oporto M, García A, Legarda I, Picado MJ, Peña C. Hipometabolismo estriatal detectado por PET-FDG cerebral en un caso de corea-acantocitosis. Rev Esp Med Nucl Imagen Mol. 2016;35:205–206.</p>" ] ] "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1931 "Ancho" => 2500 "Tamanyo" => 346000 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) MRI Fast Spin Echo T2, axial slice showing minimal size decrease of caudate heads, without other striatal abnormalities. (B) <span class="elsevierStyleSup">18</span>F-FDG PET, axial slice, shows marked bilateral striatal hypometabolism, slightly more prominent in caudates. (C) Right anteromesial temporal hypometabolism was also observed (arrow), which might be related to the epileptic seizures and the EEG abnormalities, although its precise physiopathological explanation remains unknown. 3D-SSP maps comparing our PET image with healthy controls (Cortex ID software, General Electric) also reveal the above described striatal (medial view, D) and right temporal (inferior view, E) metabolic alterations.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:3 [ 0 => array:3 [ "identificador" => "bib0020" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Neuroacanthocytosis syndromes orphanet" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "H.H. Jung" 1 => "A. Danek" 2 => "R.H. 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