ABSTRACT
Tracheal agenesis (TA), aplasia or total atresia of the trachea are congenital anomalies which are still incompatible with life. Despite the many attempts of different interventions, there are yet no promising, long-term methods of treatment. Only with sufficient proportion of the proximal or distal trachea available, it is possible to place a tracheostomy, which also opens up new vistas of life for the affected child. In most cases the seldom deformation, trachealagenesis, does not get recognised before the child is born. It may therefore be the immediate diagnosis postnatal that is decisive over the final prognosis of the child. The prepartal suspicion of a duodenal stenosis, an aphonic newborn as well as the frustrane attempts of intubation are possible guidelines of TA. In independence of peripartal and anamnestical factors, individual disciplinary decisions are necessary for further treatments. After the cancellation of intensive care the premature infant of the case report died as consequence of postnatal diagnosed tracheal aplasia. Under circumstances, medical treatments such as the ex utero intrapartum procedure (Exit), the temporary method of extracorporal membrane oxygenation (ECMO) or the use of cartilage tissue for the plastic trachea reconstruction can provide advanced medical opportunities.
Subject(s)
Infant, Premature, Diseases/diagnosis , Trachea/abnormalities , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/pathology , Adult , Contraindications , Diagnosis, Differential , Duodenum/abnormalities , Fatal Outcome , Female , Humans , Infant, Newborn , Infant, Premature, Diseases/pathology , Infant, Premature, Diseases/therapy , Intestinal Atresia/diagnosis , Intubation, Intratracheal , Patient Care Team , Pregnancy , Prenatal Diagnosis , Trachea/pathology , Tracheoesophageal Fistula/congenital , Tracheoesophageal Fistula/diagnosis , Tracheoesophageal Fistula/pathology , Treatment FailureABSTRACT
The clinical disease pattern of an "acute abdomen" is by no means rare in newborn and very young infants and always signals an emergency situation. Besides inflammatory causes, congenital anomalies are among the most prominent reasons responsible for this condition. The example of 3 own patients serves to illustrate the disease pattern of Hirschsprung's disease, which is discussed with special reference to neonatology.
Subject(s)
Hirschsprung Disease/diagnosis , Abdomen, Acute/etiology , Colonic Diseases/complications , Colonic Diseases/diagnosis , Colonic Diseases/surgery , Diagnosis, Differential , Female , Hirschsprung Disease/complications , Hirschsprung Disease/surgery , Humans , Ileostomy , Infant , Infant, Newborn , Intestinal Obstruction/complications , Intestinal Obstruction/diagnosis , Intestinal Obstruction/surgery , Intestinal Perforation/complications , Intestinal Perforation/diagnosis , Intestinal Perforation/surgery , ReoperationABSTRACT
Fever--the most frequent symptom of diseases in children--points diagnostically to an infection. We report on a child who presented with recurrent high fever of unknown origin. Infectious diseases could be excluded. During a general medical checkup the results of repeated pilocarpine iontophoresis attracted attention by the minimal secretion of sweat. The diagnosis of hypohydrotic ectodermal dysplasia could be confirmed by dermal biopsy since all integumentary appendages were missing. Only 300 cases of this rare hereditary dysplasia can be found in the literature.
Subject(s)
Ectodermal Dysplasia/complications , Fever/etiology , Biopsy , Diagnosis, Differential , Ectodermal Dysplasia/genetics , Ectodermal Dysplasia/pathology , Fever/genetics , Fever/pathology , Humans , Infant, Newborn , Male , Recurrence , Skin/pathologyABSTRACT
Hypochondrogenesis is one of non-viable skeleton dysplasiae which recently has been delimited as an entity of its own and with its classification between spondylo-epiphysary dysplasia and achondrogenesis. An accurate differential diagnosis requires specialised histo-pathological investigations of the patient's cartilage tissue. Five new observations compared to a classical case of dysplasia spondylo-epiphysaria congenita are added to the references made in literature.
Subject(s)
Achondroplasia/diagnostic imaging , Achondroplasia/pathology , Bone and Bones/diagnostic imaging , Bone and Bones/pathology , Cartilage/pathology , Diagnosis, Differential , Female , Humans , Infant, Newborn , Male , Pregnancy , Prenatal Diagnosis , RadiographyABSTRACT
Two stillborn female siblings with short rib-polydactyly syndrome type I (Saldino-Noonan) are described. Besides the characteristic narrow thorax, the pronounced micromelia and a severe dysplasia of the skeleton, a series of organic malformations have been found, in particular in the gastro-intestinal tract and in the urogenital system. The clinical, radiological and anatomo-pathological differences between the four presently known types of the SRP syndrome are described. The importance of postmortem X-ray diagnosis and of genetic counseling (autosomal recessive transmission) is emphasized.
