Résumé
Morquio syndrome is a rare lysosomal storage disease that affects multiple organ systems. However, it is rarely associated with malignancy. We present the case of a 30-year old man with Morquio syndrome associated with gastric adenocarcinoma. This case also demonstrates two other findings that have not been previously described in patients with Morquio syndrome - malrotation of brainstem and cerebellum, without clinical neurologic deficit, and persistence of fetal lobulation in the kidneys.
Sujets)
Humains , Mâle , Adulte , Maladies lysosomiales/anatomopathologie , Mucopolysaccharidose de type IV/anatomopathologie , Autopsie , Tronc cérébral/malformations , Cervelet/malformations , Issue fatale , Reins fusionnés/anatomopathologie , Seconde tumeur primitive/complications , Tumeurs de l'estomac/anatomopathologieRésumé
La encefalitis de Bickerstaff es una entidad infrecuente de origen posinfeccioso, de presentación grave y con un curso clínico generalmente benigno, cuya diferenciacióncon el síndrome de Fisher aún no es clara y su asociación con el síndrome de Guillain - Barré está ya establecida. Presentamos dos casos atendidos en el Hospital Universitario San Ignacio...
Bickerstaff encephalitis is a rare post-infectious origin disease, with an acute severe presentation form, but generally with a benign course, its differentiation from Fisher syndrome is unclear, and its association with Guillain - Barre syndrome is alreadyestablished. We report two cases treated at the Hospital Universitario San Ignacio...
Sujets)
Encéphalite/histoire , Polyradiculopathie , Tronc cérébral/malformationsSujets)
Tronc cérébral/malformations , Cervelet/malformations , Aberrations des chromosomes , Consanguinité , Études de suivi , Gènes récessifs/génétique , Humains , Nourrisson , Nouveau-né , Imagerie par résonance magnétique , Mâle , Déficience intellectuelle/diagnostic , Syndrome de détresse respiratoire du nouveau-né/diagnostic , Dégénérescences spinocérébelleuses/diagnostic , SyndromeRésumé
O crescimento do tronco encefálico foi estudado em 30 fetos humanos estadiados, usando o método alométrico Log Y = K Log X + Log b. Foi utilizado o peso do tronco encefálico (g), correlacionado com os parâmetros fetais de crescimento: idade gestacional (spc), comprimento vértex-cóccix (mm) e peso do feto (g). Os resultados demonstram que o tronco encefálico cresce com alometria negativa no período fetal. Este estudo é de grande importância para a detecçäo de anomalias congênitas do tronco encefálico, bem como na determinaçäo da idade gestacional
Sujets)
Tronc cérébral/embryologie , Développement foetal , Tronc cérébral/malformations , Âge gestationnel , Malformations du système nerveux/diagnosticRésumé
A 47-year-old man had suffered oscillopsia associated with palatal myoclonus for 10 years. High-field magnetic resonance imaging (MRI) revealed a cryptic vascular malformation within the "Guillain-Mollaret triangle" which was thought to be the responsible lesion.