RESUMO
The Currarino syndrome is an autosomal dominant partial sacral agenesis involving sacral vertebrae S2 to S5, with presevation of the S1 vertebrae. In the most severe form of the syndrome, the sacral agenesis is associated to presacral mass, anorrectal and urogenital malformations. Hirschsprung's disease is a congenital malformation of the hindgut determined by the absence if parasympathetic intrinsic ganglion cells in the submucosal and myenteric plexuses. We present a case of a 3 years old male child affected from Currarino syndrome associated to Hirschprung's disease.
El Síndrome de Currarino consiste en agenesia sacra parcial de herencia genética autosómica dominante parcial, que afecta las vértebras sacras S2 a S5, preservándose S1. En la forma más severa del síndrome, a la agenesia sacra se asocian masa presacra y malformaciones anorrectales y urogenitales. La enfermedad de Hirschsprung es una malformación congénita del intestino grueso debida a la ausencia de células ganglionares intrínsecas parasimpáticas de la submucosa y de los plexos mientéricos. Presentamos el caso de un niño de 3 años con Síndrome de Currarino asociado a enfermedad de Hirschsprung.
Assuntos
Pré-Escolar , Doença de Hirschsprung/complicações , Doença de Hirschsprung , Reto/patologia , Sacro/patologia , Reto/anormalidades , Sacro/anormalidadesRESUMO
Partial thromboplastin time, activated with kaolin (TTPA) is a qualitative test used to find defects of some factor of intrinsic via of coagulation or to rule out the presence of some circulating inhibitor. The lupus anticoagulant (LA) is part of a group of several auto-antibody with pathogenic potential in several branches of medicine, mainly rheumatology, hematology and gyneco-obstetrics. In this last area the LA has been associated with different obstetrical repercussions. The purpose of this study was to determine the main obstetrical events associated with patients with circulating anticoagulants identified by TTPA with kaolin. Ninety six patients were included in cases-control study. Group I (n = 48) cases and Group II (n = 48) controls, were selected from the same population and information source. The cases were included when presenting prolongation of more than 4 seconds of TTPA activated with kaolin regarding a control with lack of correction with normal plasma. A registration sheet for data captation, was designed specially for this study. The comparability of both groups was established, as there were no differences (significant) among the variable considered as basal. The group of cases presented with a greater frequency of habitual abortion, neonatal death and thrombotic phenomena. This relationship of autoimmunological pictures with recurrent fetal loss and thromboembolic incidents has been consistently described in literature. To this respect, several immunological abnormalities. Including positive anticardiolipin antibodies and VDRL falsely positive. The incidence, in this country of these entities, is unknown. These observations show the need of a methodologic superation.(ABSTRACT TRUNCATED AT 250 WORDS)
PIP: In a retrospective case control study of 96 obstetrical patients 48 cases had partial thromboplastin time (TTPA) with kaolin over 4 seconds compared with the test group. The control group of 48 women with normal TTPA were also studied. Age, socioeconomic status, weight, family and personal illness history were included. Habitual abortion,neonatal death, and hypertension were recorded. The average TTPA value was 53.6 +or- 7.87 seconds for the case group vs 38.8 =or- 4.9 for the controls which was not statistically significant. No statistical significance was found regarding age, start of menarche, nutritional and socioeconomic status, and blood group. The body weight of the case group was higher with 58.5 kg =or- 14.4 kg (a range of 43.4-81.4 kg). There were 7 cases of thrombophlebitis (14.5%) in the lower extremities in the case group and none in the controls. There were 7 cases of habitual abortion in the case group defined as 3 or more miscarriages before 20 weeks of gestation vs 2 cases in controls. There were 4 cases of neonatal deaths associated with premature delivery in the case groups and none in controls. Acute hypertensive disease associated with pregnancy totaled to 8 cases in the 1st group (16.6%) and 4 cases in controls (8.3%). In both groups there were 2 cases of fetal death. In the case group there was 1 case of chromosomopathy and in the control group 1 case of premature expulsion of placenta. The TTPAs test is used mostly for the initial phase of studying patients suspected of having lupus anticoagulant (LA). LA belongs to abnormalities characterized by the presence of antiphospholipid antibodies. It is often used for diagnosing initial stages of autoimmunity which can frequently occur in thrombotic process, fetal loss, intrauterine growth retardation, and increased hypertensive illness in pregnancy.