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1.
Int J Neurosci ; 132(7): 649-655, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33027596

RESUMO

BACKGROUND: "Carney Complex (CNC) is a familial lentiginosis syndrome, caused by PRKAR1A mutations that lead to cyclic AMP-dependent protein kinase (PKA) signaling pathway abnormalities, predisposing to a variety of skin tumors, myxomas and endocrine tumors. METHODS/RESULTS: We describe a Greek family diagnosed with CNC after recurrent embolic strokes, secondary to left-sided atrial myxomas. There are limited cases in the literature describing this type of presentation for CNC; typically, most cases present with an endocrine syndrome. Our case serves as a reminder of this rare, underdiagnosed syndrome and its wide phenotypic spectrum. It is followed by a review of the current literature on cases with cerebrovascular disease as a manifestation of CNC. CONCLUSION: The co-occurrence of emboligenic cardiac myxomas and skin lesions should be an indication for screening for CNC.


Assuntos
Complexo de Carney , AVC Embólico , Neoplasias Cardíacas , Mixoma , Complexo de Carney/complicações , Complexo de Carney/diagnóstico , Complexo de Carney/genética , Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/diagnóstico por imagem , Humanos , Mixoma/complicações , Mixoma/diagnóstico , Síndrome
2.
Metab Brain Dis ; 32(2): 307-310, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-28130616

RESUMO

Canavan's disease (CD) is a hereditary leukodystrophy caused by mutations in the aspartoacylase gene (ASPA), leading to spongiform degeneration of the white matter and severe impairment of psychomotor development. We present the cases of two non-Jewish sisters with CD that have a milder and protracted clinical course compared to typical CD. MRI imaging revealed bilateral high-signal-intensity areas in the thalami and the internal capsule and MR spectroscopy showed typical findings for CD (a marked increase in N-acetylaspartate (NAA) levels). FA values of the right and left corticospinal tracts at the level of the posterior limb of the internal capsule, and the centrum semiovale were found to be significantly reduced compared to healthy controls. From a neurophysiological point of view, the peripheral motor system was normal. In contrast, cortical stimulation at maximal intensity failed to elicit facilitated or resting MEPs and silent periods (SPs) in upper and lower limbs, providing evidence for significant upper motor pathway dysfunction.


Assuntos
Doença de Canavan/diagnóstico por imagem , Doença de Canavan/terapia , Imagem de Tensor de Difusão/métodos , Vias Eferentes/diagnóstico por imagem , Estimulação Magnética Transcraniana/métodos , Adulto , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Potencial Evocado Motor , Feminino , Humanos , Cápsula Interna/diagnóstico por imagem , Tratos Piramidais/diagnóstico por imagem , Tratos Piramidais/metabolismo , Irmãos , Tálamo/diagnóstico por imagem
3.
Hippokratia ; 21(4): 191-193, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-30944510

RESUMO

BACKGROUND: Previous transcranial magnetic stimulation (TMS) studies in patients with tropical spastic paraparesis (TSP) have focused on central motor conduction time measurements while other TMS parameters remained unexplored. From a neuroradiological point of view, pyramidal tract involvement with magnetic resonance imaging and diffusion tensor imaging (DTI) has been rarely reported in TSP.  Accordingly, the present study investigated the mean threshold (MT) and silent period (SP) as well as DTI measurements in TSP. CASE DESCRIPTION: A 35-year-old female patient presented with a 15-year history of spastic paraparesis with minimal upper-limb involvement. Serum and cerebrospinal fluid samples were positive for HTLV-I. TMS was performed with a figure-of-eight coil (recording, abductor hallucis and first dorsal interosseous muscles). Thr was measured at 1 % steps. SPs were elicited at 5 % increments from 0 to 100 % maximum stimulus intensity (SI), and data were used to construct a stimulus/response (S/R) curve of SI vs SP. The resulting S/R curves were fitted to a Boltzmann equation and statistically compared to control data. Voxel-based DTI analysis was performed with SPM 99. Corticospinal tractography was based on diffusion tensor data. The TMS examination disclosed that MT was significantly increased (54.5 ± 6.36 % vs 41.08 ± 7.85 % in a group of 82 controls, p=0.019). The patient's SP S/R curve had significantly reduced Max values compared to 13 age-matched controls (160.4 ± 0.91 ms vs 228.36 ± 38.69 ms, p <0.001). Fractional anisotropy was decreased in a cluster of voxels corresponding to the area of the pyramidal tract (0.388 ± 0.015 vs 0.506 ± 0.02 in 20 age-matched controls, p <0.001). CONCLUSION: The described results provide novel neurophysiological and imaging evidence for central motor pathways malfunctioning in TSP. HIPPOKRATIA 2017, 21(4): 191-193.

5.
Transplant Proc ; 40(9): 3137-41, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19010216

RESUMO

OBJECTIVE: The purpose of this study was to determinate the accuracy of multidetector computed tomography (MDCT) angiography for imaging evaluation of renal anatomic variants among potential living renal donors for surgical planning. MATERIALS AND METHODS: Two hundred twenty-three living kidney donors underwent MDCT angiography (MDCTA) in our institution over the last 2 years. The examination was performed with a 4-detector scanner, including scanning before and after power injection of nonionic contrast material during the arterial, nephrographic, and excretory phases. Scans were reconstructed for three-dimensional (3D) images using MIP, MPR, VRT, and CPR techniques. RESULTS: Arterial variants, including supernumerary renal arteries, were present in 140 subjects: 11 presented luminal stenosis; 10 had calcifications within the vessel wall; 3 had renal artery aneurysms; 2 had obstructions; and 1 had angulation of the renal artery. Calcifications were associated with luminal stenosis (4 subjects) or no pathology (6 subjects). Venous variants were present in 4 subjects, including 3 retroaortic renal veins and 1 left renal vein draining into the retrohepatic portion of the IVC. Incidental findings were 3 renal infarcts. CONCLUSION: MDCTA and urography are a minimally invasive, fast method to detect and classify a variety of anatomic anomalies among potential living renal donors relevant to surgical planning.


Assuntos
Rim , Doadores Vivos/estatística & dados numéricos , Tomografia Computadorizada por Raios X/métodos , Meios de Contraste , Desenho de Equipamento , Humanos , Processamento de Imagem Assistida por Computador , Rim/diagnóstico por imagem , Seleção de Pacientes , Artéria Renal/anormalidades , Artéria Renal/diagnóstico por imagem , Veias Renais/anormalidades , Veias Renais/diagnóstico por imagem
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