ABSTRACT
We report the case of a 54-year-old man who presented at the Emergency Department with intense headache of 6-days duration and sporadic nominal dysphasia. He did not present anosmia and the rest of the examination was normal. The emergency CT and the posterior cerebral MR showed a great subfrontal extra-axial mass of 7 x 6 x 5 cm, over the right side of the cribiform plate, hetereogeneously enhancing after gadolinium administration. Preoperative diagnosis was olfactory groove meningioma. After total removal by bifrontal craniotomy the histopathological diagnosis was schwannoma of the conventional type. Owing to the unusual frequency of this kind of tumors (26 to the date), we review the literature, the possible radiological differences with olfactory groove meningiomas and the different theories about their origin.
Subject(s)
Brain Neoplasms , Neurilemmoma , Brain Neoplasms/diagnosis , Brain Neoplasms/pathology , Brain Neoplasms/surgery , Humans , Male , Meningioma/diagnosis , Meningioma/pathology , Middle Aged , Neurilemmoma/diagnosis , Neurilemmoma/pathology , Neurilemmoma/surgeryABSTRACT
Presentamos el caso de un paciente varón de 54 añosque acude a Urgencias por cefalea importante de 6 díasde evolución así como por una disfasia nominal ocasional.No presentaba anosmia ni otra sintomatología. ElTAC urgente y la RM craneal posterior muestran unagran tumoración extra-axial frontobasal de 7×6×5 cmde diámetro, localizada mas sobre el lado derecho dela lámina cribosa, que capta contraste hetereogéneamentey cuyo diagnóstico de sospecha fue meningiomadel surco del olfatorio. Tras su exéresis total mediantecraneotomía bifrontal, la anatomía patológica es informadacomo schwanoma de tipo convencional. Dada larareza de este tipo de tumores (26 hasta la fecha), revisamosla literatura, sus posibles diferencias radiológicascon el meningioma del surco del olfatorio y las diversasteorías acerca de su origen (AU)
We report the case of a 54-year-old man who presentedat the Emergency Department with intenseheadache of 6-days duration and sporadic nominaldysphasia. He did not present anosmia and the rest ofthe examination was normal. The emergency CT andthe posterior cerebral MR showed a great subfrontalextra-axial mass of 7×6×5 cm, over the right side ofthe cribiform plate, hetereogeneously enhancing aftergadolinium administration. Preoperative diagnosis wasolfactory groove menigioma. After total removal bybifrontal craniotomy the histopathological diagnosiswas schwannoma of the conventional type. Owing to the unusual frequency of this kind of tumors (26 to thedate), we review the literature, the possible radiologicaldifferences with olfactory groove meningiomas and thedifferent theories about their origin (AU)
Subject(s)
Humans , Male , Middle Aged , Neurilemmoma/diagnosis , Neurilemmoma/surgery , Tomography, X-Ray Computed , Magnetic Resonance SpectroscopyABSTRACT
El síndrome de cri du chat, o monosomía 5p-, es una rara anomalía genética debida a la deleción de un segmento del brazo corto del cromosoma 5, que muestra una gran variabilidad fenotípica y citogenética. Su incidencia varía de 1/15.000 a 1/50.000 recién nacidos vivos, aunque es posible que su frecuencia sea mayor. Se comunica un nuevo caso neonatal con algunas de las características fenotípicas del síndrome, con una deleción en 5p15.2 por translocación materna, que precisó técnicas moleculares para su confirmación; asimismo, se revisan los aspectos clínicos y citogenéticos más interesantes de esta afección
Cri-du-chat syndrome, or monosomy 5p-, is an uncommon genetic anomaly, caused by the deletion of a segment of the short arm of chromosome 5, that exhibits a wide phenotypic and cytogenetic variability. The incidence ranges from 1/15,000 to 1/50,000 live-born infants, although the frequency may be higher. We report the case of a newborn infant with some of the phenotypic characteristics associated with the syndrome and a deletion in 5p15.2 due to a maternal translocation, which required confirmation by molecular techniques. We also review the more interesting clinical and cytogenetic aspects of this condition
Subject(s)
Male , Infant, Newborn , Humans , Cri-du-Chat Syndrome/genetics , Monosomy/genetics , Phenotype , Facies , Cytogenetic Analysis/methodsABSTRACT
No disponible
