RESUMEN
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and progressive scoliosis developing in childhood and adolescence. We present a child with clinical and neuroimaging findings typical of HGPPS. CT and MRI of the brain demonstrated pons hypoplasia, absence of the facial colliculi, butterfly configuration of the medulla and a deep midline pontine cleft. We briefly discuss the imaging aspects of this rare entity in light of the current literature.
Asunto(s)
Encefalopatías/diagnóstico , Encéfalo/patología , Trastornos de la Motilidad Ocular/diagnóstico , Escoliosis/diagnóstico , Tomografía Computarizada por Rayos X/métodos , Niño , Humanos , Masculino , Trastornos de la Motilidad Ocular/complicaciones , Escoliosis/complicacionesAsunto(s)
Angioma Venoso del Sistema Nervioso Central/complicaciones , Infarto Cerebral/complicaciones , Venas Cerebrales/anomalías , Trombosis de la Vena/complicaciones , Angioma Venoso del Sistema Nervioso Central/diagnóstico , Infarto Cerebral/diagnóstico , Imagen de Difusión por Resonancia Magnética/métodos , Femenino , Humanos , Trombosis de la Vena/diagnóstico , Adulto JovenAsunto(s)
Femenino , Humanos , Adulto Joven , Angioma Venoso del Sistema Nervioso Central/complicaciones , Infarto Cerebral/complicaciones , Venas Cerebrales/anomalías , Trombosis de la Vena/complicaciones , Angioma Venoso del Sistema Nervioso Central/diagnóstico , Infarto Cerebral/diagnóstico , Imagen de Difusión por Resonancia Magnética/métodos , Trombosis de la Vena/diagnóstico , Adulto JovenRESUMEN
PURPOSE: To determine gallbladder volume with sonography during fasting and in response to a fatty meal in patients with spinal cord injuries (SCIs) and compare the results with those obtained in healthy controls. METHOD: Forty-three patients with SCI and 40 healthy volunteers without clinical evidence of gallbladder disease underwent sonography before and 30 and 60 minutes after the ingestion of a standard fatty meal. The gallbladder fasting volume, resting volume, and gallbladder contractility were calculated, and the results were compared. Correlation between gallbladder contractility and level of lesion, time since injury, use of oxybutynin, and body mass index (BMI) was also assessed. RESULTS: The mean ejection fraction was significantly lower in the patients with SCIs (40%) compared with healthy controls (63%) (p < 0.001). Gallbladder mean residual volume 60 minutes after ingestion of the fatty meal was lower in the control group (p < 0.001). CONCLUSION: Gallbladder contractility is impaired in patients with SCI, which may predispose these patients to gallstone formation. There was no correlation between gallbladder contractility and level of the lesion, time since injury, use of oxybutynin, or BMI.
Asunto(s)
Discinesia Biliar/diagnóstico por imagen , Vaciamiento Vesicular/fisiología , Traumatismos de la Médula Espinal/fisiopatología , Adulto , Discinesia Biliar/fisiopatología , Estudios de Casos y Controles , Grasas de la Dieta/administración & dosificación , Femenino , Humanos , Masculino , Ácidos Mandélicos/administración & dosificación , Estadísticas no Paramétricas , Factores de Tiempo , UltrasonografíaRESUMEN
Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Patients present the classical triad of congenital ichthyosis, mental retardation and spastic di- or tetraplegia. Magnetic resonance imaging (MRI) of the brain usually shows hypomyelination involving the periventricular white matter. Cerebral proton MR spectroscopy ((1)H-MRS) reveals a characteristic abnormal lipid peak. We report three cases of SLS from different families with the typical clinical triad. The MRI and (1)H-MRS findings are discussed.
Asunto(s)
Ácido Aspártico/análogos & derivados , Encéfalo/patología , Metabolismo de los Lípidos , Síndrome de Sjögren-Larsson/patología , Adolescente , Ácido Aspártico/metabolismo , Encéfalo/metabolismo , Niño , Preescolar , Femenino , Humanos , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , MasculinoRESUMEN
A síndrome de Sjögren-Larsson (SJL) é distúrbio raro, autossômico recessivo, caracterizado pela tríade clássica de ictiose congênita, retardo mental e tetraplegia ou diplegia espástica. Trata-se de um erro inato do metabolismo dos lipídios, causado pela deficiência da enzima microssômica aldeído graxo desidrogenase. Os achados de imagem do encéfalo na SJL demonstram atrofia cerebral e alteração da substância branca. A espectroscopia de prótons, com poucos casos relatados, caracteriza-se pelo elevado pico de lipídios e redução de N-acetil-aspartato. Apresentamos três casos de SJL, com ênfase nos achados da ressonância magnética e da espectroscopia de prótons.