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1.
Cardiovasc Intervent Radiol ; 31(3): 490-5, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18299922

RESUMO

The purpose of this study was to investigate the instantaneous impact of catheter arteriography on blood asymmetric dimethylarginine (ADMA) levels in accordance with patient- and procedure-related variables. Sixty-eight patients (16 women, 52 men; mean age, 45.6 +/- 20.1 years; range, 20-79 years) referred for cerebral or peripheral catheter arteriography were recruited for the study. Pre- and postarteriography arterial blood ADMA levels were determined by high-performance liquid chromatographic technique. Type of nonionic iodinated contrast media used, duration of procedure, patient gender, and patient age were noted and evaluated as possible factors that could influence serum ADMA levels in arteriography procedures. Prearteriography ADMA levels decreased significantly after arteriography in general (pre, 1.16 +/- 0.96 micromol/L; post, 1.08 +/- 0.80 micromol/L; p = 0.002). Males tended to have lower postarteriography serum ADMA levels (p = 0.005). Serum ADMA levels tended to get lower after peripheral arteriography procedures (p = 0.005) and when iohexol, 350 mg I/ml, was used as the contrast agent (p = 0.017). In conclusion, ADMA level does not seem to be subject to acute elevation after catheter arteriography; on the contrary, its level may decrease in general. Moreover, a reduction in serum ADMA level may be expected, especially in male patients, in patients who undergo a peripheral arteriography procedure, or when iohexol, 350 mg I/ml, is used as the contrast agent.


Assuntos
Angiografia/métodos , Arginina/análogos & derivados , Cateterismo Periférico/métodos , Óxido Nítrico Sintase/antagonistas & inibidores , Óxido Nítrico Sintase/sangue , Adulto , Idoso , Angiografia/efeitos adversos , Arginina/sangue , Biomarcadores/sangue , Cateterismo Periférico/efeitos adversos , Cromatografia Líquida de Alta Pressão , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Probabilidade , Medição de Risco , Sensibilidade e Especificidade , Estatísticas não Paramétricas
2.
J Comput Assist Tomogr ; 31(5): 728-31, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17895784

RESUMO

OBJECTIVE: We aimed to describe the clinical and multidetector computed tomography (MDCT) angiography findings of celiac, mesenteric, and renal artery entrapment by the median arcuate ligament. MATERIALS AND METHODS: Patients (n = 453) who underwent MDCT abdominal aorta angiography in a period of 3 years were retrospectively reviewed for vascular compression by median arcuate ligament known as median arcuate ligament syndrome. The MDCT examinations were performed with 16-slice (n = 292) and 64-slice scanners (n = 161). The median arcuate ligament itself and adjacent vascular branches of abdominal aorta were assessed for compression by 2 different radiologists who are experienced on MDCT angiography more than 3 years. Both axial, multiplanar reformatted images and 3-dimensional angiographies were used for interpretation. RESULTS: Twelve patients were found to have clinically significant vessel entrapments by median arcuate ligament; 6 of them with celiac artery, 4 of them with renal artery, and 2 of them with both celiac and mesenteric artery involvement. Patients with celiac and mesenteric vessel entrapments presented with epigastric pain. All patients with renal artery entrapment had resistant hypertension. The MDCT showed the proximal narrowing caused by compression of median arcuate ligament. The proximal portions of renal arteries pulled down and in toward the aorta, with mild to moderate narrowing. CONCLUSIONS: The MDCT exanimation with multiplanar images and 3-dimensional angiography is a noninvasive imaging technique that can be used with high accuracy in the diagnosis of median arcuate ligament syndrome.


Assuntos
Angiografia/métodos , Arteriopatias Oclusivas/diagnóstico por imagem , Artéria Celíaca , Ligamentos , Oclusão Vascular Mesentérica/diagnóstico por imagem , Obstrução da Artéria Renal/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adulto , Idoso , Idoso de 80 Anos ou mais , Meios de Contraste , Feminino , Humanos , Imageamento Tridimensional , Iohexol/análogos & derivados , Masculino , Artéria Mesentérica Superior , Pessoa de Meia-Idade , Estudos Retrospectivos , Síndrome
3.
Eur J Radiol ; 62(1): 97-105, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17178446

RESUMO

OBJECTIVE: To compare the development of temporal bone in normal and atretic ears and to assess some radiological landmarks that could be important in the hearing restoration interventions in such patients. MATERIAL AND METHODS: Thirty-five patients with 40 atretic external ears were evaluated with temporal bone CT and compared to a control group of 40 normal ears retrospectively. Using comparable slice levels in all patients, the course and the caliper of the facial canal, the surface area of the incus and malleus, the level of mastoid aeration, the location and anteroposterior diameters of the jugular bulb and sigmoid sinus, the direction and the caliber of the tympanic bony part of the Eustachian tube, area of the middle ear cavity, distance from facial nerve to incudomalleolar joint, to the vestibule and to the jugular bulb were included in the assessment. Non-parametric and parametric statistical tests were used for comparison. RESULTS: In atretic ears middle ear sectional area was found to be smaller at the equivalent plane as compared to control subjects (mean area index: 19.3mm(2) versus 47.4mm(2)). Mastoid aeration was low in general and the ossicles in the atretic ears were hypoplastic (mean ossicular sectional area: 8.3mm(2) versus 11 mm(2)). The distance from the jugular bulb to the facial nerve was significantly lower (mean: 6.2mm versus 6.8mm) (p<0.05) in the atretic ears. Facial canal caliber, distance from the facial canal to the incudomalleolar joint and distance from the facial canal to the vestibule in the atretic ears (means: 1.49, 2.93 and 1.82, respectively) did not show statistically significant difference from the control subjects (means: 1.44, 2.91 and 1.83, respectively) (p>0.05 for all). CONCLUSION: External ear atresia is significantly associated with middle ear and mastoid abnormalities. The ossicles were underdeveloped which always have to be considered during reconstructive surgery. Radiologically, in the atretic ears anterior-posterior length of the temporal bone was more influenced as compared to superior-inferior portion, which justifies abnormal route of the facial nerve canal. However, there is no abnormality in the development of the facial nerve as the caliper is similar to the control subjects.


Assuntos
Otopatias/congênito , Otopatias/diagnóstico por imagem , Orelha Média/anormalidades , Processo Mastoide/anormalidades , Osso Temporal/anormalidades , Tomografia Computadorizada por Raios X/métodos , Adolescente , Adulto , Distribuição de Qui-Quadrado , Orelha Externa/anormalidades , Orelha Média/diagnóstico por imagem , Feminino , Humanos , Masculino , Processo Mastoide/diagnóstico por imagem , Pessoa de Meia-Idade , Cuidados Pré-Operatórios , Estudos Retrospectivos , Índice de Gravidade de Doença , Osso Temporal/diagnóstico por imagem
4.
Eur J Radiol ; 60(3): 465-9, 2006 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16962278

RESUMO

Benign adrenal gland cysts (BACs) are rare lesions with a variable histological spectrum and may mimic not only each other but also malignant ones. We aimed to review imaging features of BACs which can be helpful in distinguishing each entity and determining the subsequent appropriate management.


Assuntos
Doenças das Glândulas Suprarrenais/diagnóstico , Cistos/diagnóstico , Diagnóstico por Imagem , Diagnóstico Diferencial , Humanos
5.
AJNR Am J Neuroradiol ; 26(9): 2187-99, 2005 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16219821

RESUMO

PURPOSE: The purpose of this study was to estimate the diagnostic accuracy of relative cerebral blood volume (rCBV) measurement in preoperative grading and differentiation of solitary intra-axial malignant brain tumors. METHODS: Thirty-six low-grade glial tumors (LGGTs), 22 high-grade glial tumors (HGGTs), and 17 metastases (METs) were prospectively evaluated by MR imaging and standard dynamic susceptibility contrast-enhanced gradient echo, echoplanar imaging during first pass of a bolus injection of contrast material. Normalized rCBV values from tumoral (rCBV(T)) and peritumoral (rCBV(P)) areas were calculated by standard software and statistically tested independently. RESULTS: The mean differences of rCBV(T) and rCBV(P) values between LGGT (2.30 +/- 1.12 and 1.18 +/- 0.24) and HGGT (5.42 +/- 1.52 and 2.17 +/- 0.82) (P < .001); HGGTs and METs (3.21 +/- 0.98 and 0.97 +/- 0.09) (P < .001); and LGGTs and METs (P < .05 and P < .001, respectively) were significant. No clear cutoff value was present. A clear rCBV(T) cutoff value of 2.6 was detected for differentiation of low- (1.75 +/- 0.38; LGA) versus high-grade (4.78 +/- 0.99; HGA) astrocytomas when nonastrocytic glial tumors were excluded. The rCBV(T) values were linearly correlated with degree of malignancy (r = 0.869; P < .001). Cutoff rCBV(P) values of 1.1 and 1.2 were quite effective in differentiation of METs from LGGTs and HGGTs, respectively. The overall efficacy of rCBV was higher in grading than in differentiation. CONCLUSION: The diagnostic accuracy of rCBV measurement is higher in grading of glial brain tumors than in differentiation of HGGTs from solitary intra-axial METs. The astrocytic and nonastrocytic glial tumors have to be evaluated separately for precise grading.


Assuntos
Volume Sanguíneo , Neoplasias Encefálicas/irrigação sanguínea , Circulação Cerebrovascular , Angiografia por Ressonância Magnética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/secundário , Criança , Meios de Contraste , Imagem Ecoplanar , Glioma/irrigação sanguínea , Glioma/patologia , Humanos , Masculino , Pessoa de Meia-Idade
6.
Clin Imaging ; 29(5): 325-30, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-16153538

RESUMO

BACKGROUND: Although intrahepatic arterioportal fistula (APF) due to acquired or congenital causes are infrequent, they are listed among the causes of portal hypertension. PURPOSE: The aim of this study was to present the results of intrahepatic APF treatment with embolotherapy in six cases. MATERIAL AND METHODS: Transarterial detachable balloon and coil embolization was used on six consecutive cases with traumatic intrahepatic APF from 1989 to 2003. Six-month follow-up angiography was obtained in every case. RESULTS: Successful disconnection of hepatic arterial and portal system was achieved in five cases. At least symptomatic improvement was achieved in one. CONCLUSION: Transcatheter embolization may be the first line of treatment for intrahepatic APF.


Assuntos
Fístula Arteriovenosa/terapia , Embolização Terapêutica/métodos , Artéria Hepática , Adulto , Fístula Arteriovenosa/diagnóstico por imagem , Oclusão com Balão , Feminino , Artéria Hepática/diagnóstico por imagem , Humanos , Masculino , Microesferas , Pessoa de Meia-Idade , Veia Porta/diagnóstico por imagem , Resultado do Tratamento , Ultrassonografia
7.
Ulus Travma Acil Cerrahi Derg ; 11(2): 165-8, 2005 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15877250

RESUMO

A 14-year-old boy was admitted to the hospital with the complaints of epigastric pain and vomiting for three days following epigastric trauma. Physical examination revealed a palpable mass in the epigastrium without any signs of peritoneal irritation. Vital signs, biochemical analysis, chest and abdominal x-rays were normal. Abdominal US, CT and upper gastrointestinal endoscopy showed that there was a well-defined duodenal intramural mass suggesting hematoma. Intraabdominal solid organs were normal and we did not observe free air or extravasation of contrast media. Therefore, we followed up the patient by US. The hematoma completely resolved 48 days after the trauma.


Assuntos
Traumatismos Abdominais/complicações , Duodenopatias/diagnóstico , Duodeno/lesões , Hematoma/diagnóstico , Dor Abdominal/etiologia , Adolescente , Diagnóstico Diferencial , Duodenopatias/diagnóstico por imagem , Duodenopatias/etiologia , Duodenopatias/patologia , Duodenoscopia , Hematoma/diagnóstico por imagem , Hematoma/etiologia , Hematoma/patologia , Humanos , Masculino , Tomografia Computadorizada por Raios X , Ultrassonografia
8.
Diagn Interv Radiol ; 11(1): 60-5, 2005 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15795846

RESUMO

PURPOSE: To evaluate the occurrence of testicular microlithiasis in pediatric age group by means of ultrasonography (US) examinations and to review the literature for pediatric testicular microlithiasis cases accompanied by testicular and extratesticular tumors. MATERIALS AND METHODS: Nine children aged 3-16 years (mean age, 9.2 years) with testicular microlithiasis had been evaluated with US in a period ranging from 6 months to 6 years. In addition to the testicular ultrasonographic evaluation, liver US and abdominopelvic US were performed in all patients. RESULTS: Typical testicular microlithiasis findings were seen in a total of 17 testicles. In one patient, testis did not exist in either the scrotum or the inguinal canal or the abdomen unilaterally. None of the patients displayed a focal lesion during the evaluation. The abdominal ultrasonographic findings were normal in all patients. CONCLUSION: Although no tumoral lesion accompanying testicular microlithiasis or occurring in the course of evaluation was detected in this study, larger population and longer control periods are required, considering the co-existence of benign and malign lesions with testicular microlithiasis in the literature.


Assuntos
Litíase/diagnóstico por imagem , Litíase/epidemiologia , Doenças Testiculares/diagnóstico por imagem , Doenças Testiculares/epidemiologia , Adolescente , Criança , Pré-Escolar , Humanos , Litíase/etiologia , Masculino , Serviço Hospitalar de Radiologia/estatística & dados numéricos , Doenças Testiculares/etiologia , Turquia/epidemiologia , Ultrassonografia
9.
J Comput Assist Tomogr ; 28(6): 735-46, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15538145

RESUMO

OBJECTIVE: ADC calculation can improve the diagnostic efficacy of MR imaging in brain tumor grading and differentiation. METHODS: Apparent diffusion coefficient (ADC) values and ratios of 33 low-grade (23 astrocytomas, 10 oligodendrogliomas) and 40 high-grade (25 metastases and 15 high-grade astrocytomas) malignant tumors were prospectively evaluated. RESULTS: Tumoral ADC values (r=-0.738, P <0.000) and ratios (r=-0.746, P < 0.000) were well correlated with higher degree of malignancy and quite effective in grading of malignant brain tumors (P < 0.000). By using cutoff values of 0.99 for tumoral ADC value and 1.22 for normalized ADC ratio, the sensitivity of MR imaging could be increased from 72.22% to 93.75% and 90.63%, the specificity from 81.08% to 92.68% and 90.24%, PPV from 78.79% to 90.91% and 87.88%, and NPV from 75.00% to 95.00% and 92.50%, respectively. CONCLUSION: ADC calculation was quite effective in grading of malignant brain tumors but not in differentiation of them and added more information to conventional contrast-enhanced MR imaging.


Assuntos
Neoplasias Encefálicas/diagnóstico , Imagem de Difusão por Ressonância Magnética/métodos , Aumento da Imagem/métodos , Adolescente , Adulto , Astrocitoma/diagnóstico , Astrocitoma/patologia , Encéfalo/patologia , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/secundário , Meios de Contraste , Feminino , Glioblastoma/diagnóstico , Glioblastoma/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Oligodendroglioma/diagnóstico , Oligodendroglioma/patologia , Valor Preditivo dos Testes , Estudos Prospectivos , Curva ROC , Sensibilidade e Especificidade , Método Simples-Cego
10.
Clin Imaging ; 28(1): 20-2, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-14996442

RESUMO

A 20-year-old male with craniomandibular deformity and almost total visual loss of the right eye due to bilateral optic atrophy underwent cerebral nonenhanced computed tomography (NECT) examinations. He had multiple sphenoidal-temporoparietal meningiomas, with adjacent hyperostoses and distant calvarial hyperdense lesions, as well as sclerotic expansion of right mandibular condyle. History, clinical and imaging findings were suggestive of associated fibrous dysplasia (FD), which explained the visual loss due to optic nerve compression through sphenoidal optic foramens. Cranial and mandibular FD and concurrent multiple globoid meningiomas in this case may suggest a mutual influence, which may explain the etiopathogenesis of FD lesions and/or bone hyperdensities adjacent or distant to meningiomas.


Assuntos
Transtornos Craniomandibulares/etiologia , Displasia Fibrosa Óssea/etiologia , Neoplasias Meníngeas/complicações , Meningioma/complicações , Adulto , Humanos , Masculino , Neoplasias Meníngeas/diagnóstico por imagem , Meningioma/diagnóstico por imagem , Seio Esfenoidal/diagnóstico por imagem , Seio Esfenoidal/patologia , Osso Temporal/diagnóstico por imagem , Osso Temporal/patologia , Tomografia Computadorizada por Raios X
11.
Eur J Radiol ; 52(3): 329-334, 2004 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-15643719

RESUMO

OBJECTIVE: The treatment of seminal vesicle abscesses (SVA) by transrectal ultrasound-guided transrectal and transperineal approaches were evaluated in this study. MATERIALS AND METHODS: Six SVA cases were diagnosed among 2350 patients admitted to our ultrasound unit with prostate and seminal vesicle symptoms during the last 6 years. Four out of six cases had bilateral, and two had unilateral SVA. Transperineal puncture and aspiration was done in four patients with bilateral abscesses and transrectal approach was preferred in two patients with unilateral abscesses. RESULTS: For both approaches, the aspiration was successfully done without any complication. The mean durations of intervention were 64 and 13 min, and the durations of hospitalization were 2 and 3 days for the transperineal and transrectal approaches, respectively. CONCLUSION: Transrectal ultrasound examination allows simultaneous evaluation of the gland and the guidance for a needle puncture and aspiration. Furthermore, rapid pain relief, regression of other symptoms, minimally invasive technique and shorter hospitalization seem to be important features as compared with conservative and surgical treatment modalities.


Assuntos
Abscesso/cirurgia , Doenças dos Genitais Masculinos/cirurgia , Glândulas Seminais/cirurgia , Ultrassonografia de Intervenção , Abscesso/diagnóstico por imagem , Adolescente , Adulto , Antibacterianos/uso terapêutico , Cefoxitina/uso terapêutico , Infecções por Escherichia coli/diagnóstico por imagem , Infecções por Escherichia coli/cirurgia , Seguimentos , Doenças dos Genitais Masculinos/diagnóstico por imagem , Hospitalização , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Minimamente Invasivos , Agulhas , Paracentese/instrumentação , Períneo , Reto , Glândulas Seminais/diagnóstico por imagem , Sucção/instrumentação , Fatores de Tempo
12.
J Comput Assist Tomogr ; 27(4): 630-3, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12886157

RESUMO

Intravenous leiomyomatosis is a seldom neoplasia characterized by invasion of venous channels by a benign smooth muscle tumor originating either from a uterine myoma or from vessel wall. Extension to the heart may cause mechanical obstruction and is frequently misdiagnosed as a right-atrial myxoma. We present a case of recurrent intravenous leiomyomatosis with previous hysterectomy because of uterine leiomyoma which have different magnetic resonance characteristics than that of the former reports.


Assuntos
Neoplasias Cardíacas/diagnóstico por imagem , Leiomioma/complicações , Leiomiomatose/diagnóstico por imagem , Neoplasias Uterinas/complicações , Adulto , Diagnóstico Diferencial , Feminino , Neoplasias Cardíacas/etiologia , Humanos , Histerectomia , Leiomioma/cirurgia , Leiomiomatose/etiologia , Imageamento por Ressonância Magnética , Células Neoplásicas Circulantes , Tomografia Computadorizada por Raios X , Neoplasias Uterinas/cirurgia
13.
AJNR Am J Neuroradiol ; 24(2): 225-33, 2003 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-12591638

RESUMO

BACKGROUND AND PURPOSE: MR spectroscopy and apparent diffusion coefficient (ADC) calculation have been used frequently for tumor grading and differentiation during the last decade. We evaluated whether the combination of these two techniques can improve the diagnostic effectiveness of MR imaging in patients with brain tumors. METHODS: Forty-nine patients with histologically proved brain tumors (eight high- and 12 low-grade astrocytomas, eight metastases, eight nonastrocytic gliomas, seven meningiomas, three dysembryoplastic neuroepithelial tumors (DNETs), and three tuberculomas) were prospectively evaluated with contrast material-enhanced MR imaging, single-voxel proton MR spectroscopy (TE = 135 ms), and diffusion-weighted imaging (b = 0, 500, and 1000 s/mm(2)) before surgery. RESULTS: MR spectroscopy could differentiate benign from malignant tumors but was not useful in grading malignant tumors. In the differentiation of malignant from benign tumors, N-acetylaspartate (NAA)/choline (Cho), NAA/Cho + creatine (Cr), lactate/Cr, and alanin/Cr ratios (P <.001) were statistically more significant than NAA/Cr and lactate/lipid ratios (P <.05). Increase in lipid/Cr and alanin/Cr ratios could distinguish metastasis and meningiomas from other tumors, respectively (P <.001). DNETs could be diagnosed by their normal spectra and high ADC values (116.25 +/- 6.93 x 10(-3) mm(2)/s). Increase in lactate/Cr ratio correlated with degree of malignancy (r = -0.71). ADCs were effective for grading malignant tumors (P <.001) but not for distinguishing different tumor types with the same grade. High-grade malignant tumors (87.16 +/- 10.41 x 10(-3) mm(2)/s) had significantly lower ADC values than did low-grade malignant (115.33 +/- 11.67 x 10(-3) mm(2)/s) and benign (107.69 +/- 8.05 x 10(-3) mm(2)/s) tumors. Peritumoral ADCs were significantly higher in low-grade than in high-grade astrocytomas (P <.05). CONCLUSION: Combination of calculated ADC values from tumoral core and specific relative metabolite ratios acquired by MR spectroscopy added more information to MR imaging in the differentiation and grading of brain tumors and were more useful together than each alone.


Assuntos
Ácido Aspártico/análogos & derivados , Neoplasias Encefálicas/diagnóstico , Imagem de Difusão por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Adolescente , Adulto , Idoso , Alanina/análise , Ácido Aspártico/metabolismo , Astrocitoma/diagnóstico , Encéfalo/patologia , Neoplasias Encefálicas/secundário , Colina/metabolismo , Creatina/metabolismo , Diagnóstico Diferencial , Feminino , Glioblastoma/diagnóstico , Glioma/diagnóstico , Humanos , Ácido Láctico/metabolismo , Masculino , Neoplasias Meníngeas/diagnóstico , Meningioma/diagnóstico , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Teratoma/diagnóstico , Tuberculoma Intracraniano/diagnóstico
14.
Comput Med Imaging Graph ; 26(6): 453-8, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-12453509

RESUMO

A Turkish patient with cobblestone lissencephaly and eye involvement without characteristic muscular changes for congenital muscular dystrophy died at the age of 3 months presented with neonatal apneic periods and generalized seizures. Serum creatine kinase level, electromyography, chromosome analysis and blood biochemistry were normal. Unilateral microphthalmia, retinal dysplasia and internal strabismus were the ocular findings. Magnetic resonance imaging clearly demonstrated the thickened, irregular, nearly agyric cobblestone cerebral cortex with underlying unmyelinated white matter, hydrocephalus, hypoplastic corpus callosum, brain stem and cerebellum with retrocerebellar cyst and posterior cephalocele.


Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Encéfalo/anormalidades , Transtornos Cromossômicos/diagnóstico por imagem , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Cerebelo/anormalidades , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/patologia , Evolução Fatal , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Distrofias Musculares/diagnóstico por imagem , Distrofias Musculares/genética , Mutação , Radiografia , Retina/anormalidades , Síndrome
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