Aborto recurrente - Aspectos genéticos, Aspectos infecciosos

RESUMENLa Homocistinuria, es un desorden metabólico autosómico recesivo, cuya forma clásica es causada por deficiencia de cistationina β-sintasa, debido a mutaciones en el gen CBS (Cr 21q22.3). Se describe el caso de un varón de 17 años con hipopigmentación de piel y faneras, retraso psicomotor moderado, hábito marfanoide, miopía severa, subluxación del cristalino bilateral, que además presentó eventos psicóticos y una hemiparesia izquierda secundaria a un infarto lacunar. La determinación de homocisteína en plasma se encontró elevada (>9,9mg/dl), así como niveles altos de nitroprusiato de sodio en orina(4+) que confirmaron el diagnóstico clínico de homocistinuria. La homocistinuria clásica genera múltiples complicaciones a nivel dérmico, oftalmológico, cognitivo, osteoarticular y psiquiátrico; que podrían evitarse con un diagnóstico y tratamiento oportuno a través del tamizaje neonatal, aún no disponible en la mayoría de centros asistenciales en el Perú.PALABRAS CLAVE: Enfermedades metabólicas, hábito marfanoide, homocistinuria, Perú, diagnóstico tardío. SUMMARYHomocystinuria is an autosomal-recessive metabolic disorder whose classical phenotype is caused by a deficiency of cystathionine β-synthase, due to mutations within the CBS gene (Cr21q22.3). Herein we report a 17 year old man with hypopigmented skin and hair, mental retardation, marfanoid habitus, severe myopia, bilateral lens subluxation, psychotic episodes, and left-sided hemiparesis secondary to a lacunar brain infarction. Laboratory tests showed increased levels of homocysteine (>9.9mg/dl) in plasma and high levels of urinary sodium nitroprusside (4+), consistent with the clinical diagnosis of classical homocystinuria. This systemic disorder includes dermal, ophthalmic, cognitive, osteoarticular and psychiatric alterations, all of which could be potentially prevented with early diagnosis and therapy as part of newborn screening, which is still unavailable in Peru.

Poster abstracts anemia (hemoglobin 3.9 g/dl), thrombocytopenia (platelet count 21,000/mm3) and consumptive coagulopathy. With DIC and multiorgan failure, the baby was died 6 days after birth despite massive transfusion and ventilator care. Fetal MR and prenatal ultrasound imaging can be used to reveal the location, size and structural components, especially vascular components of a lesion, as well as extensiveness to the surrounding organ. It can also provide more information for differential diagnosis of vascular or soft tissue tumors. Method: Retrospective observational cohort study to assess the frequency of genetic markers and outcome of the pregnancies. Data was extracted from digitally archived ultrasound examinations and follow up was done by telephone calls to assess during the study period July 1, 2003-31 December 2007. Results: Total US genetic markers were seen 821, out of 12 511 patients (6.6%). There were 706 patients with one marker only, 74 with 2 markers and 41 patients had = / > 3 markers were present. The following 14 markers were identified: Choroid plexus cysts (CPC), Ventriculomegaly, Echogenic intra-cardiac focus (EIF), Nuchal fold (NF), Echogenic bowel, Pyelectesis/hydronephrosis, Short humerus, short femur, Single umbilical artery (SUA), Clinodactyle, Sandal gap toe, Rocker bottom foot, Omphalocele, and cystic hygroma. The total number of markers were (Number/frequency) are as follows: EIF 307 (37.4%), CPC 183 (22.3%), SUA 121 (14.7%), Pyelectesis 55 (6.7%), Echogenic bowel 51 (6.2%%), Ventriculomegaly 46 (5.6%), NF 37 (4.5%), short femur 25(3.0%), short humerus 20 (2.4%), Cystic hygroma 8 (1%), Omphalocele 5 (.6%), sandal gap toes 4 (.5%), Clinodactyle 3 (.4%), Rocker bottom feet 2 (.2%). There were 706 patients with single ultrasound markers (86%), 74 patients with 2 markers (9.0%), 41 patients with = /> 3 markers (5%). P44: SECOND AND THIRD TRIMESTER Conclusion:The frequency of ultrasound genetic markers @ Perinatal Center located in Appalachia was 6.5% and majority (86%) of patients had one marker only, 9.0% had 2 markers and 5.0% had = /> 3 markers. Outcome of all these patients was assessed on FU phone calls. Details will be presented. P44.03 Detection of birth defects by routine ultrasound in Obstetrics and Gynecology, Federal University of Mato Grosso, Cuiaba, BrazilSeventy patients had birth defects detected by ultrasonographic diagnosis in a two-year period (2004 and 2005) in Cuiaba, Brazil. Thirteen fetuses had major birth defects. The mean maternal age was 25 years and the 42% of the cases were primigravida. Only 45.7% of the patients had prenatal care. The cesarean section ratio was 58% and the frequency of autopsy was just 6%. All the affected babies were from singleton pregnancies, 9% presented with multiple defects, and 10% were stillborn. There was predominance of female babies (66%). The correlation between prenatal and postnatal diagnosis was totally reached in 81% of the cases. The most frequent ultrasound findings were from central nervous system (22%) and gastroin...

RESUMENLa alcaptonuria es un error innato del metabolismo causado por la deficiencia de la homogentisiato 1,2 dioxidasa (HGD), produciéndose un exceso de ácido homogentísico (HGA). Se presenta el caso de una mujer de 57 años quien, desde que nació, su orina se tornaba de color negro; desde hacía 9 años presentaba una pigmentación verdosa en los lechos ungueales que no mejoró con tratamientos antifúngicos y en los últimos 9 meses presentó artrosis de articulaciones grandes que fue empeorando, forzándola a usar una silla de ruedas por el intenso dolor generado por la artrosis de caderas y columna lumbar. Por la descripción de los síntomas se le solicitó la medición de HGA en orina lo que confirmó el diagnóstico de alcaptonuria. Se sugirieron analgésicos, dieta sin productos que contuvieran tirosina y fue referida para cirugía de reemplazo de cadera. Se trata del primer reporte de caso de alcaptonuria en el Perú.Palabras clave: Alcaptonuria; Metabolismo; Ácido homogentísico (fuente: DeCS BIREME). FIRST REPORT OF ALKAPTONURIA IN PERU ABSTRACTAlkaptonuria is an inborn error of metabolism caused by deficiency of homogentisate 1,2-dioxygenase (HGD) which produces an excess of homogentisic acid (HGA). A case is presented of a 57 year old woman whose urine has turned black since birth. For 9 years she presented a greenish pigmentation in her nail beds that did not improve with antifungal treatments, and in the last 9 months she showed worsening large joint osteoarthritis. This situation forced her to use a wheelchair due to the intense pain caused by osteoarthritis in her hips and lumbar spine. From the description of symptoms, her urinary HGA was measured which confirmed the diagnosis of alkaptonuria. Analgesics and a diet without tyrosine-containing products were suggested. The patient was also referred for hip replacement surgery. This is the first reported case of alkaptonuria in Peru.

Objetivo: Se evalúa la efectividad de la medición de la translucencia nucal en un examen de ultrasonido rutinario para la detección prenatal de síndrome de Down. Material y métodos: Estudio ecográfico entre las 10 y 14 semanas de edad gestacional para medición de la translucencia nucal, a fin de determinar la asociación de incremento de la translucencia nucal y un cariotipo fetal anormal. Resultados: Un total de 423 pacientes únicas y un embarazo gemelar fueron estudiadas. Hubo 410 fetos con valores de 3 mm o menos, de los cuales nacieron 409 productos normales y un feto con trisomía 13. De un total de 14 fetos con valores mayores de 3 mm de translucencia nucal encontramos 3 bebes normales, 7 bebes con trisomía 21, dos bebes con síndrome de Turner y 2 muertes fetales intrauterinas sin estudio genético. Se realizó 64 amniocentesis para cultivo de células fetales, 5 estudios cromosómicos en productos abortados espontáneamente y un estudio a un bebe nacido vivo con malformaciones. Conclusión: Este estudio demuestra que la medición de la translucencia nucal en el primer trimestre es un método efectivo de despistaje de anomalías cromosómicas fetales y que es posible la implementación de un programa de screening en la práctica rutinaria.