ABSTRACT
En este reporte presentamos el caso de un paciente masculino nacido de 39 semanas, producto de tercera gestación (dos abortos anteriores) de madre de 38 años y padre de 46 años. Las características clínicas del paciente incluyen macrocefalia, fontanela anterior amplia con diástasis de sutura sagital, escleras grisáceas, pabellones auriculares displásicos de implantación baja, raíz nasal corta, pliegue simiano en mano derecha e hirsutismo. Se obtienen tomografía axial computarizada de cráneo y resonancia magnética cerebral que presentan agenesia de cuerpo calloso y dilatación del asta occipital de los ventrículos laterales. El cariotipo en sangre periférica evidencia trisomía parcial del cromosoma 22 (47, XY+22, del (22) (q11.2qter)). El paciente requirió 7 días de hospitalización y se da egreso hospitalario en buenas condiciones generales pero con un retardo psicomotor severo e hipotonía generalizada. Dadas las malformaciones estructurales severas que se presentan en este síndrome, los embarazos a término y la supervivencia postnatal de los niños con trisomía 22 son eventos muy raros. El caso de este paciente complementa otros reportes ilustrando que la trisomía 22 puede sobrevivir más allá del nacimiento.
In this report, we present the case of a male patient who was born 39 weeks, the product of third gestation (two previous abortions) with a 38 year old mother and a 46 year old father. The clinical characteristics of the patient include macrocephaly, extensive anterior fontanelle with diastasis recti sagittal suture, ochronosis grayish pavilions dysplastic headphones lowset, short nasal root, simian crease in her right hand and hirsutism. We obtained a computerized axial tomography of skull and a brain magnetic resonance with agenesis of the corpus callosum and dilation of the ASTA occipital of the lateral ventricles. The karyotype in peripheral blood evidence partial trisomy of chromosome 22 (47, XY+22, del (22) (q11.2qter)). The patient required 7 days of hospitalization and was released from the hospital in good condition overall, but with a psychomotor retardation and severe generalized hypotonia. Given the severe structural malformations that are present in this syndrome, the term pregnancy and post birth survival of children with trisomy 22 are very rare events. The case of this patient complements other reports illustrating that trisomy 22 can survive beyond birth.
Subject(s)
Trisomy , Congenital Abnormalities , Infant, Newborn , Abortion, SpontaneousABSTRACT
Given that hypothermia cases have occurred in newborns after MRI with anesthesia and reproducing what was observed in centers visited overseas, we implemented a supervised protocol to evaluate the results of cerebral MRI performed without anesthesia or sedation in patients hospitalized in our institution. Objective: To display results of the protocol for performing cerebral MRI without anesthesia in our newborn patients. Materials and methods: A retrospective study, we evaluated cerebral MRI performed on newborns from september 2012 - july 2013. Protocol for performing MRI without anesthesia was applied in institutionalized patients. Variables are compared with MRI performed using anesthesia, during this period. Results: 22 cerebral MRI were performed, 14 without anesthesia. The duration of the study without anesthesia was 48 minutes on average, obtaining adequate images in 13 studies, reprogramming the examination with anesthesia in one case. Conclusions: The protocol implemented allows the acquisition of diagnostic-quality cerebral MRI, obviating the anesthesia.
Dado casos de hipotermia en recién nacidos (RN) posterior a resonancia magnética (RM) con anestesia y reproduciendo lo observado en centros extranjeros visitados, implementamos protocolo supervisado para evaluar los resultados de RM encefálicas realizadas sin anestesia o sedación en pacientes hospitalizados en nuestra institución. Objetivo: Mostrar resultados del protocolo para realización de RM encefálica sin anestesia en nuestros pacientes RN. Materiales y métodos: Estudio retrospectivo, evaluamos RM encefálicas realizadas en RN entre septiembre 2012 - julio 2013. Se aplicó protocolo para realización de RM sin anestesia en pacientes institucionalizados. Se comparan variables con RM realizadas con anestesia en ese periodo. Resultados: Se realizaron 22 RM encefálicas, 14 sin anestesia. La duración del estudio sin anestesia fue de 48 minutos promedio, obteniendo imágenes adecuadas en 13 estudios, reprogramando el examen con anestesia en un caso. Conclusiones: el protocolo implementado permite obtener RM encefálicas de calidad diagnóstica, obviando la anestesia.
Subject(s)
Humans , Male , Female , Infant, Newborn , Anesthesia/methods , Brain Diseases/diagnosis , Hypothermia/prevention & control , Magnetic Resonance Imaging/methods , Retrospective Studies , Clinical ProtocolsABSTRACT
The silent cerebral infarct is an clinic symptom that is so slight or transitory as to be easily neglected. There are only neural symptoms and signs,but irresponsible infarct focus can be seen on image. The risk factors of silent cerebral infarct may be the same as those of symptomatic cerebral infarct. Such infarct is likely to influence the course, clinic symptom and prognosis of acute cerebral infarct and may foretell symptomatic cerebral infarct and deteriorate into pseudo-global paralysis or multi-infarcted dementia. Therefore elder who suffer from hypertension or diabetes and experience vertigo, headache, language barrier but without apparent signs and symptoms should receive cerebral CT or MRI. Minor or third-degree precautionary measures can be taken as a chief therapy for cerebral infarct. Alternatively vitamines B_6,B_(12) and folic acid can be supplied to reduce the chance of hyperhomocysteinemia. Headache is the initial symptom in silent brain infarct. Magnesium is effective when dehydration does not work.