ABSTRACT
One case of congenital cutis laxa with delayed development, ligamentous and articular laxity, multiple diverticulum and articular punctuated calcifications, with ultrastructural study, is presented. Literature is reviewed, reporting the known data about pathogenesis and inheritance.
Subject(s)
Calcinosis/complications , Cutis Laxa/complications , Joint Diseases/complications , Calcinosis/pathology , Cutis Laxa/etiology , Cutis Laxa/pathology , Humans , Infant , Joint Diseases/pathology , Male , SyndromeABSTRACT
Authors report a Sandifer's Syndrome: dystonic postures as a pseudoneurologic symptoms, associated to disorders of the hiatus. Its consideration is of importance taking it into account in order to avoid diagnostic errors unnecesary investigations and wrong treatments.
Subject(s)
Hernia, Diaphragmatic/complications , Hernia, Hiatal/complications , Torticollis/etiology , Child, Preschool , Diagnosis, Differential , Feeding Behavior , Gastroesophageal Reflux/etiology , Hernia, Hiatal/diagnosis , Humans , Male , Nervous System Diseases/diagnosis , SyndromeABSTRACT
Authors present their adopted measures, in the different clinical stages of endotoxic shock with a phisiological approach, paying special attention to those secondary to meningococcal infections.
Subject(s)
Shock, Septic/therapy , Adrenal Cortex Hormones/therapeutic use , Anti-Bacterial Agents/therapeutic use , Cardiovascular Agents/therapeutic use , Combined Modality Therapy , Fluid Therapy , Humans , Intensive Care Units , Meningococcal Infections/complications , Shock, Septic/drug therapy , Shock, Septic/etiology , Vitamin K/therapeutic useABSTRACT
Two cases of hyperinsulinism are presented, one nesidioblastosis and one focal adenomatose hyperplasia, in 17 and three months-old males, respectively. Several techniques and diagnostic methods are revised, making a brief resume of its' difficulties. An approach to diagnostic of hyperinsulinisms in particular and of hypoglycemias in general is presented.
Subject(s)
Hyperinsulinism/diagnosis , Humans , Hyperinsulinism/etiology , Hyperplasia , Hypoglycemia/classification , Hypoglycemia/etiology , Infant , Islets of Langerhans/pathology , Male , Pancreas/pathologyABSTRACT
A two-years-old male with toxopachyosteose diaphisaire tibioperoniere (Weismann-Netter syndrome) is presented. First observation of this syndrome in spanish publications. Basic signs of this syndrome: dwarfism with bilateral tibio-fibula incurvation and sclerosis, are remembered, as well as deafness like associated symptom. Radiologic signs to differentiate between others process, specially rickets and syphilis, with which it was for a long time confused, are remarked.
