RESUMO
The Fukuyama type congenital muscular dystrophy (FCMD) is a rare autosomal recessive disorder characterized by cranial, cerebellar and ocular malformations and congenital muscular dystrophy. Hyperekplexia is characterized by transient, generalized rigidity in response to unexpected loud noises or sudden tactile stimulation. Herein, we report an infant who had typical clinical features of FCMD with hyperekplexia. Our purpose is to draw attention to this first report of concomitant FCMD and hyperekplexia.
Assuntos
Aberrações Cromossômicas , Genes Recessivos/genética , Recém-Nascido , Distrofias Musculares/genética , Reflexo Anormal/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Síndrome Acrocalosal/diagnóstico , Síndrome Acrocalosal/genética , Encéfalo/anormalidades , Encéfalo/patologia , Consanguinidade , Eletromiografia , Feminino , Humanos , Imageamento por Ressonância Magnética , Microcefalia/diagnóstico , Microcefalia/genética , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/genética , Distrofias Musculares/diagnóstico , Fenótipo , TurquiaRESUMO
In this experimental study, the effects of mannitol and hydroxyethyl starch solution (HES) on bacterial translocation were evaluated in a rat model of simple mechanical bowel obstruction. The mechanical bowel obstruction was created by ligation of the ileum 1 cm proximal to the ileocecal valve. Excluding the control group (n = 7), the rats were given 2 ml of mannitol or 2 ml of 6% hydroxyethyl starch solution intraperitoneally during the procedure. Relaparotomy was made and segmental ileal resection, total mesenteric lymph node excision and removal of tissue sample of liver were performed 24 h after the mechanical bowel obstruction, both for histopathological and microbiological examination. The rates of colony formation in the mesenteric lymph nodes after the mechanical bowel obstruction were 71% (5/7) in control animals, 43% (3/7) in animals given mannitol and only 14% (1/7) in animals given HES. In the liver samples observed for the bacterial translocation, the corresponding figures were 14% (1/7), 28% (2/7) and 0% (0/7) respectively. The difference between hydroxyethyl starch solution and control groups were statistically significant (P<0.04). The bacterial population/g tissue obtained from intraluminal bacterial cultures of the ileum was also depressed in hydroxyethyl starch solution group when compared to the control (P<0.03). As a result, we confirmed that hydroxyethyl starch solution, a plasma volume expander, depressed the bacterial translocation to the mesenteric lymph nodes and liver and also reduced intraluminal bacterial overgrowth in the simple mechanical bowel obstruction model of rats. We believe that hydroxyethyl starch solution may be an alternative therapeutic agent for the pre-operative fluid resuscitation in simple mechanical bowel obstruction.
