Complicaciones hemodinámicas en el perioperatorio de la ectopia cordis / Hemodynamic complications in the perioperative of ectopia cordis

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Hemiparesia como signo de comienzo de la enfermedad de la sustancia blanca evanescente. Identificación de una nueva mutación / Left hemiparesis as a sign of onset of vanishing white matter disease. Identification of a new mutation

La enfermedad de la sustancia blanca evanescente es una enfermedad genética de herencia autosómica recesiva que afecta a la sustancia blanca cerebral. Existen varios fenotipos que difieren en la gravedad y la edad de inicio. Clásicamente, se caracteriza por la aparición de ataxia, espasticidad y un deterioro motor progresivo con exacerbaciones desencadenadas por procesos febriles y traumatismos craneales leves. Niña de 2,5 años, que tras traumatismo craneal leve, presentó marcha atáxica, hemiparesia izquierda y reflejos osteotendinosos exaltados. En la resonancia magnética cerebral se observó afectación difusa y simétrica de la sustancia blanca cerebral, con hiposeñal en T1 e hiperseñal en T2, y FLAIR. Se sospechó enfermedad de la sustancia blanca evanescente que se confirmó en el estudio genético al encontrar 2 mutaciones consideradas patogénicas, en el gen EIF2B5, una de ellas no descrita previamente. La hemiparesia debe incluirse entre las manifestaciones clínicas de la enfermedad de la sustancia blanca evanescente. El diagnóstico precoz puede ayudar a evitar infecciones y traumatismos, así como a realizar un adecuado consejo genético a las familias. Nuestro caso aporta además la identificación de una nueva mutación en el gen EIF2B5 (p.Gly132Ala en la posición 395), no descrita previamente, cuyas características sugieren que es patogénica con elevada probabilidad, por lo que estimamos que debería ser considerada entre las mutaciones del complejo EIF2B responsables de la enfermedad (AU)

Vanishing white matter disease is a genetic disorder of autosomal recessive inheritance that affects the brain white matter There are various phenotypes that differ in severity and age at onset. Usually, it is characterized by ataxia, spasticity and a progressive motor decline with exacerbations triggered by fever and mild head traumas. The patient was a 2.5 year-old girl who developed unstable gait, left hemiparesis and increased tendon reflexes following a mild head trauma. Brain MRI showed diffuse and symmetric white matter abnormalities with decreased signal on T1 and increased signal on T2 and FLAIR sequences. Vanishing White Matter disease was suspected. The diagnosis was confirmed by genetic molecular testing that showed 2 mutations in EIF2B5 gene. Both mutations were considered pathogenic, although one had not been previously described. Hemiparesis must be included among clinical features of vanishing white matter disease. Early diagnosis can help to avoid infections and traumas and allows families to be genetically counselled. Our case contributes with the identification of a new mutation in EIF2B5 gene (p.Gly132Ala in position 395), not previously described. Its characteristics suggest a high probability of being pathogenic. We believe that it should be considered among the complex EIF2B mutations responsible for the disease (AU)

[Left hemiparesis as a sign of onset of vanishing white matter disease. Identification of a new mutation]. / Hemiparesia como signo de comienzo de la enfermedad de la sustancia blanca evanescente. Identificación de una nueva mutación.

Vanishing white matter disease is a genetic disorder of autosomal recessive inheritance that affects the brain white matter There are various phenotypes that differ in severity and age at onset. Usually, it is characterized by ataxia, spasticity and a progressive motor decline with exacerbations triggered by fever and mild head traumas. The patient was a 2.5 year-old girl who developed unstable gait, left hemiparesis and increased tendon reflexes following a mild head trauma. Brain MRI showed diffuse and symmetric white matter abnormalities with decreased signal on T1 and increased signal on T2 and FLAIR sequences. Vanishing White Matter disease was suspected. The diagnosis was confirmed by genetic molecular testing that showed 2 mutations in EIF2B5 gene. Both mutations were considered pathogenic, although one had not been previously described. Hemiparesis must be included among clinical features of vanishing white matter disease. Early diagnosis can help to avoid infections and traumas and allows families to be genetically counselled. Our case contributes with the identification of a new mutation in EIF2B5 gene (p.Gly132Ala in position 395), not previously described. Its characteristics suggest a high probability of being pathogenic. We believe that it should be considered among the complex EIF2B mutations responsible for the disease.

Usefulness of thoracic CT to diagnose tuberculosis disease in patients younger than 4 years of age.

BACKGROUND: There is controversy over the need of using thoracic CT (TCT) systematically for differentiating disease from tuberculosis infection in young children. This distinction is important when making a diagnosis of TB as the treatment changes from a single drug to a multidurug regimen with reported side-effects. AIM: To determine the usefulness of using TCT to diagnose pulmonary tuberculosis (PTB) in patients younger than 4 years of age who have TB infection (IBI). MATERIALS AND METHODS: After the simultaneous detection of four cases of PTB in children who attended the same class, a study on the contact among workers and children was carried out. One hundred sixteen children younger than 4 years and 20 adults were included. The tuberculin skin test (TST) was performed on all of them. CHEST XR (CXR) and TCT were performed on children with positive TST and three samples of gastric acid were taken. CXR and sputum testing were performed on adults with positive TST. RESULTS: TST was positive in 28 children (24.1%). In 92.8% of children with positive TST and normal CXR, TCT showed features compatible with PTB. Out of the 28 children with positive TST, 27 (96.4%) were diagnosed with PTB and only one with latent TBI (4%). CONCLUSIONS: In children younger than 4-year old with positive TST and normal CXR, it would be advisable to perform a TCT since the findings could change the diagnosis from TBI to TB disease.

Necrosis grasa subcutánea en un recién nacido y sus complicaciones / Subcutaneous fat necrosis in newborn and its complications

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