RESUMO
We present a case of breast pseudoaneurysm following a blunt trauma in a 58-year-old woman. Few cases of breast pseudoaneurysm have been reported in the literature, and most of these are related to previous interventional procedures. Pseudoaneurysm was suspected on real-time sonography and confirmed with color Doppler and spectral wave analysis, which revealed a characteristic to-and-fro pattern. Unlike previously reported cases, treatmentwith ultrasound-guided compression was successful.
Assuntos
Falso Aneurisma/diagnóstico por imagem , Falso Aneurisma/etiologia , Artéria Torácica Interna/lesões , Ferimentos não Penetrantes/complicações , Ferimentos não Penetrantes/diagnóstico por imagem , Falso Aneurisma/terapia , Mama/irrigação sanguínea , Mama/lesões , Feminino , Técnicas Hemostáticas , Humanos , Artéria Torácica Interna/diagnóstico por imagem , Pessoa de Meia-Idade , Ultrassonografia Doppler em Cores , Ultrassonografia Mamária , Ferimentos não Penetrantes/terapiaRESUMO
OBJECTIVE: With 20-30% of all marriages occurring between first cousins, increasing attention in Jordan is now given to role of consanguinity in the occurrence of genetic diseases. The objective of this study is to define the specific categories of genetic disorders associated with consanguineous marriages. METHODS: Etiological categories and consanguinity rates were studied among 623 families with genetic syndromes, congenital anomalies or mental retardation, or both, seen at the National Center for Diabetes, Endocrinology and Genetics for the period August 2002 to August 2006. Comparisons were made for first cousin marriage rates in the study group and that for the general population. RESULTS: First cousin marriages constituted 69%, 22% and 41.7% of marriages among families with autosomal recessive conditions (group 1), dominant, X-linked and chromosomal conditions (group 2) and sporadic undiagnosed conditions (group 3) respectively. The differences in rates of first cousin matings versus non-consanguineous matings were highly significant when comparing known figures in the general population with group 1 and 3, but not significant with group 2. CONCLUSION: Two messages to the public and health care personnel regarding consanguinity can be derived from this study. The first message is that among genetic disorders, only autosomal recessive disorders are strongly associated with consanguinity. The second message is that approximately 30% of sporadic undiagnosed cases of mental retardation, congenital anomalies and dysmorphism may have an autosomal recessive etiology with risks of recurrence in future pregnancies.
Assuntos
Consanguinidade , Doenças Genéticas Inatas/epidemiologia , Transtornos Cromossômicos/genética , Feminino , Genes Recessivos , Humanos , Jordânia , MasculinoRESUMO
Ataxia-telangiectasia is a rare autosomal recessive neurodegenerative disorder with high incidence of malignancy including leukemias, lymphomas, and solid tumors. Central nervous system tumors in ataxia telangiectasia include medulloblastomas and gliomas. We describe a 13-year-old girl with ataxia telangiectasia who developed craniopharyngioma and non-Hodgkin's lymphoma. To our knowledge, this is the first case of ataxia telangiectasia complicated by craniopharyngioma in the English literature.
Assuntos
Ataxia Telangiectasia/complicações , Craniofaringioma/complicações , Neoplasias Hipofisárias/complicações , Adolescente , Ataxia Telangiectasia/diagnóstico , Ataxia Telangiectasia/genética , Encéfalo/patologia , Consanguinidade , Craniofaringioma/diagnóstico , Craniofaringioma/genética , Craniofaringioma/cirurgia , Evolução Fatal , Feminino , Humanos , Hipofisectomia , Linfoma não Hodgkin/complicações , Linfoma não Hodgkin/diagnóstico , Linfoma não Hodgkin/genética , Imageamento por Ressonância Magnética , Neoplasias Primárias Múltiplas/complicações , Neoplasias Primárias Múltiplas/diagnóstico , Neoplasias Primárias Múltiplas/genética , Exame Neurológico , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/genética , Neoplasias Hipofisárias/cirurgiaAssuntos
Cegueira/etiologia , Malformações do Desenvolvimento Cortical/complicações , Displasia Septo-Óptica/complicações , Adolescente , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Disco Óptico/patologia , Tomografia Computadorizada por Raios X/métodosRESUMO
A 5-year-old boy presented to the ophthalmology department complaining of absent tearing while crying. Slit-lamp examination showed decreased tear margin film with normal punctae. Orbit magnetic resonance imaging was done and showed bilateral absent lacrimal glands. This is the third case of isolated bilateral lacrimal gland agenesis in the literature. [J Pediatr Ophthalmol Strabismus. 2016;53:e35-e38.].
Assuntos
Anormalidades do Olho/diagnóstico por imagem , Aparelho Lacrimal/anormalidades , Pré-Escolar , Anormalidades do Olho/metabolismo , Humanos , Aparelho Lacrimal/diagnóstico por imagem , Doenças do Aparelho Lacrimal/diagnóstico por imagem , Doenças do Aparelho Lacrimal/metabolismo , Imageamento por Ressonância Magnética , Masculino , Linhagem , Lágrimas/metabolismo , Tomografia Computadorizada por Raios XRESUMO
Cockayne syndrome is a rare autosomal recessive condition characterized by growth failure and multisystem progressive degeneration. We report and describe this syndrome in a Jordanian brother and sister with Cockayne syndrome with first cousin parents. Clinical features included short stature, cachectic senile look, neurological deterioration, photosensitivity, mental retardation, hearing impairment and carious teeth. The phenotype is compatible with a mild variant of type I Cockayne syndrome. They showed an exaggerated response to growth hormone provocation test, with slightly elevated basal insulin-like growth factor 1 levels. The radiological findings of thinning of ribs and slender femora with narrow medullary canals have not previously been reported in this syndrome. We discuss the implications of these findings.
Assuntos
Síndrome de Cockayne/diagnóstico , Síndrome de Cockayne/genética , Anormalidades Múltiplas/genética , Adolescente , Criança , Consanguinidade , Feminino , Humanos , Deficiência Intelectual/genética , Jordânia , Masculino , Irmãos , SíndromeRESUMO
A hospital based prospective study was conducted from July 2001 to July 2015 at the Department of Radiology, Jordan University Hospital, Amman, Jordan. During that period, five cases of double inferior vena cava (DIVC) were discovered among a cohort of 7722 patients (3861 men and 3861 women, 49.5±16.9 years, range 1678 years). Cases were diagnosed by contrast-enhanced Spiral CT venography (CTV) and confirmed by turbo three-dimensional (3D) time-of-flight contrast-enhanced MR venography. The majority of patients 3166 (41 %) were referred for staging and follow-up of malignancy, postoperative complications 1777 (23 %), non-specific abdominal pain 1467 (19 %), preoperative assessment 849 (11 %) and trauma 463 (6 %). Magnetic resonance venography showed higher sensitivity, diagnostic accuracy and noninvasive modality for assessment of IVC map. MRV is a more useful, noninvasive modality for assessment of IVC map. DIVC is a common anomaly, its incidence in our study found to be 0.064 %. The incidence, literature review, embryogenesis, and importance of this anomaly are discussed. In addition, sample figures of relevant cases are provided.
En el Departamento de Radiología del Hospital de la Universidad de Jordania, Amman, Jordania, se llevó a cabo un estudio prospectivo entre el mes de julio de 2001 al mes de julio del 2015. Durante ese período se descubrieron cinco casos de vena cava inferior doble (VCID) en una cohorte de 7722 pacientes (3861 hombres y mujeres 3861, de 49,5 ± 16,9 años, con un rango de edad de 16-78 años). Los casos fueron diagnosticados por medio de venografía por tomografía computada espiral con contraste (TCV) y confirmados por medio de venografía por estudio tridimensional turbo. La mayoría de los pacientes (3166, 41 %) fueron remitidos para estadificación y seguimiento de tumores malignos. Se presentaron complicaciones postoperatorias en 1777 pacientes (23 %), dolor abdominal no especificado en 1467 (19 %), evaluación preoperatoria en 849 (11 %) y traumatismo en 463 pacientes (6 %). La venografía por resonancia magnética (RMV) mostró una mayor sensibilidad, precisión diagnóstica, y resultando no invasiva para la evaluación de la vena cava inferior (VCI). RMV es una modalidad más útil, no invasiva para la evaluación de la VCI. VCID es una anomalía frecuente, encontrándose en nuestro estudio una incidencia de 0,064 %. Además se realizó una revisión de la literatura, la embriogénesis, y la importancia de esta anomalía. También, se proporcionaron cifras de muestras de los casos relevantes.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Flebografia/métodos , Veia Cava Inferior , Veia Cava Inferior/anormalidades , Jordânia , Imageamento por Ressonância Magnética , Estudos Prospectivos , Tomografia Computadorizada por Raios X , Veia Cava Inferior/embriologiaRESUMO
We describe the case of a 29-year-old woman who presented with pancytopenia and myelofibrosis. Brucella melitensis was identified in her blood. The patient recovered completely with doxycycline and rifampin. A repeat bone marrow biopsy showed hypercellularity without myelofibrosis. Bone marrow findings in cases of pancytopenia due to brucellosis reveal normocellularity, hypercellularity, hemophagocytosis, or granuloma. To our knowledge this is the first report of brucellosis causing myelofibrosis. Brucellosis should be considered as a possible cause of myelofibrosis in endemic areas.
Assuntos
Brucella melitensis/isolamento & purificação , Brucelose/complicações , Mielofibrose Primária/etiologia , Adulto , Biópsia , Medula Óssea/patologia , Brucella melitensis/classificação , Brucelose/microbiologia , Doxiciclina/uso terapêutico , Feminino , Humanos , Pancitopenia/etiologia , Pancitopenia/microbiologia , Mielofibrose Primária/microbiologia , Rifampina/uso terapêuticoRESUMO
This study aims at establishing whether transverse diameter (TD) and cross sectional-area (CSA) of the ascending aorta (AA), descending aorta (DA) and pulmonary trunk (PT) measured by computerized tomographic angiography (CTA) altered by sex, age, hypertension, smoking and diabetes. CTA examinations of the TD and CSA of the AA, DA and PT of 100 patients aged 49.5±16.9 years (range 1678 years) selected between January 2009 to May 2011 from those referred to Radiology Department, Jordan University Hospital, Faculty of Medicine, University of Jordan, Amman, Jordan for advanced evaluation. Measurements were made in the axial plane at the upper border of the six thoracic vertebrae. Patients were divided into three age groups. Significance of differences in parameters between age groups was calculated. Assessment ratios were considered. It was found that parameters of the three arteries were significantly larger in men than in women (P= < 0.05) and increased with age. Hypertension increased diameters of AA and DA in both genders (P= 0.001) and of PT in men (P= 0.01). Smoking significantly decreased parameters of PT in men (P= 0.01). Diabetes increased parameters of the three arteries in both genders, significantly increased parameters of PT in men (P= <0.05) and parameters of DA in women (P= <0.05). It is concluded that studied parameters were larger in men and increased with age of our patients. Distinctive differences in measurements appeared in hypertensive, smokers, and diabetic patients.
El objetivo fue determinar si el sexo, edad, hipertensión, tabaquismo y la diabetes alteran el diámetro transversal (DT) y área transversal (AT) de la parte ascendente de la aorta (AA), parte descendente de la aorta (AD) y tronco pulmonar (TP), medidos por angiografía por tomografía computadorizada (ATC). Exámenes de ATC de 100 pacientes de 49,5±16,9 años (rango 1678 años) fueron seleccionados entre enero del año 2009 a mayo del año 2011 por el Departamento de Radiología, Hospital de la Universidad de Jordania, Facultad de Medicina de la Universidad de Jordania, Amman, Jordania para una evaluación avanzada del DT y AT de la AA, AD y TP. Las mediciones se realizaron en el plano axial en el margen superior de las seis vértebras torácicas. Los pacientes fueron divididos en tres grupos según edad. Se determinó la existencia de significancia estadística de los diferentes parámetros entre los grupos etarios. La evaluación de las razones también fueron consideradas. Se encontró que los parámetros de las tres arterias fueron significativamente mayores en los hombres que en las mujeres (p= <0,05) y que aumentaron con la edad. La hipertensión aumentó los diámetros de la AA y AD en ambos sexos (p= 0,001) y del TP en los hombres (p= 0,01). En fumadores disminuyeron significativamente los parámetros del TP en los hombres (p= 0,01). La diabetes aumentó los parámetros de las tres arterias en ambos sexos. Ademas, aumentaron significativamente los parámetros del TP en los hombres (p= <0,05) y los parámetros de la AD en las mujeres (p = <0,05). Se concluye que los parámetros estudiados eran mayores en los hombres y aumentaron con la edad de nuestros pacientes. Diferencias distintivas en las mediciones aparecieron en hipertensos, fumadores y pacientes diabéticos.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Aorta/diagnóstico por imagem , Aorta/patologia , Artéria Pulmonar/patologia , Fatores Etários , Aorta Torácica/diagnóstico por imagem , Aorta Torácica/patologia , Angiografia por Tomografia Computadorizada , Diabetes Mellitus/patologia , Hipertensão/patologia , Artéria Pulmonar/diagnóstico por imagem , Fatores Sexuais , Tabagismo/patologiaRESUMO
A 16-year-old male patient with hereditary multiple exostoses (HME) was found to have a pseudoaneurysm of the left popliteal artery caused by osteochondroma in the lower femur. The diagnosis was confirmed by ultrasound, magnetic resonance imaging and magnetic resonance angiography without the need to perform an angiogram. The osteochondroma was excised and the popliteal artery was repaired with a saphenous graft. Vascular complications are extremely rare in HME, pseudoaneurysm being the most common and mostly located in the popliteal artery. This complication should be considered in young HME patients with a mass at the knee region. The radiological spectrum of investigations allows the diagnosis of this complication with proper and less invasive management procedures for the patient.