ABSTRACT
El Síndrome de Waardenburg es un cuadro con herencia autosómica dominante y expresión clínica variable, poco frecuente en la población general, pero que en algunas series se ha involucrado en hasta un 2 por ciento de las hipoacusias congénitas severas. En estos pacientes se aprecian, además de la hipoacusia, diversos rasgos dismórficos, distinguiéndose cuatro tipos del síndrome, en función de la presencia o ausencia de distopia cantorum, malformaciones esqueléticas y enfermedad de Hirchsprung. Se han descrito diversas alteraciones genéticas frecuentes en cada uno de los tipos de esta enfermedad. Presentamos dos familias, con un total de 21 pacientes, siete de ellos en edad pediátrica afectos de esta enfermedad. En conclusión, hay que destacar la importancia del conocimiento de los distintos rasgos dismórficos de este síndrome, que nos pueden llevar a la detección precoz de una posible hipoacusia de percepción que permita la instauración de terapias enfocadas a una adquisición del lenguaje lo más óptima posible en estos pacientes (AU)
Subject(s)
Adolescent , Female , Child, Preschool , Male , Child , Humans , Waardenburg Syndrome/genetics , Waardenburg Syndrome/diagnosis , Pedigree , Hearing Loss/genetics , Hearing Loss/diagnosisSubject(s)
Echocardiography, Doppler , Takayasu Arteritis/diagnosis , Aorta, Abdominal/physiopathology , Aorta, Abdominal/ultrastructure , Aortography , Child, Preschool , Electrocardiography , Female , Humans , Mesenteric Artery, Superior/physiopathology , Mesenteric Artery, Superior/ultrastructure , Takayasu Arteritis/physiopathologySubject(s)
Tuberculosis, Pulmonary/congenital , Autopsy , Humans , Infant, Newborn , Lung/pathology , Male , Tuberculosis, Pulmonary/pathologySubject(s)
Anti-Bacterial Agents/therapeutic use , Respiratory Tract Infections/drug therapy , Child , Child, Preschool , Humans , Otitis Media/drug therapy , Otitis Media/etiology , Pharyngitis/drug therapy , Pharyngitis/etiology , Respiratory Tract Infections/etiology , Sinusitis/drug therapy , Sinusitis/etiology , Tonsillitis/drug therapy , Tonsillitis/etiologyABSTRACT
173 children hospitalized with acute diarrhea are studied retrospectively with the object of finding clinico-analytic parameters suggestive of bacterial etiology. The 88 boys and 85 girls varied in age between 3 months and 10 years (only 20% were under a year). The children were divided into 2 groups: group D (+) were 39 children with positive stool cultures (salmonellas, 64%; campylobacter, 25%, and shigellas, 11%), and group D (-) were 134 children with negative stool cultures, and served as a control group. Various parameters were analyzed in order to define the socio-economic and nutritional status, and psychomotor development. Careful analysis was made of the patients' histories and exploratory findings, with special emphasis on the characteristics of the feces. Using the chi-square statistical analysis, significant differences between the two groups were found in relation to length of hospital stay, which was longer in group D (+) (p less than 0.001), the appearance of blood in stool, more often in group D (+) (p less than 0.05) and in the number of children of group D (+) with band forms greater than 10% (p less than 0.05). In accordance with our findings, the practice of stool cultures should be limited to those patients with acute febrile diarrhea presenting macroscopic blood in stool and leukocytosis with neutrophilia (excepting children under 3 months of age, those in a critical or malnourished state, immunodepressed or in a particular epidemic situation). In this way the number of stool cultures and medical assistance costs would be markedly reduced and a more adequate cost/benefit relation would be obtained.
Subject(s)
Bacteria/isolation & purification , Bacterial Infections/microbiology , Diagnostic Tests, Routine , Diarrhea, Infantile/microbiology , Feces/microbiology , Bacterial Infections/diagnosis , Child , Child, Preschool , Cost-Benefit Analysis , Diagnostic Tests, Routine/economics , Diarrhea, Infantile/etiology , Female , Humans , Infant , Male , Retrospective StudiesABSTRACT
Two cases of Ewing's sarcoma primary found in the skull are presented. Both started with neurologic symptoms, the first case with intracraneal hypertension syndrome, and the second case with Jackson-like crisis. We emphasize the rareness of the initial localization, as well as the favorable evolution of both cases after surgery and radiotherapy and chemotherapy treatment.
Subject(s)
Epilepsies, Partial/etiology , Sarcoma, Ewing/diagnosis , Skull Neoplasms/diagnosis , Brain/pathology , Child , Combined Modality Therapy , Humans , Male , Pseudotumor Cerebri/etiology , Sarcoma, Ewing/complications , Sarcoma, Ewing/pathology , Skull Neoplasms/complications , Skull Neoplasms/pathology , Tomography, X-Ray ComputedABSTRACT
The brain abscess is not frequent in childhood. However, they have important and serious consequences. We have studied the natural history of fifteen cases, emphasizing the situations in which they appear with the purpose to avoid them. Our results are similar to those of other series in regard to the etiology, manifestations, diagnosis and treatment. The incidence was greater in males (66.6%) and between 10 to 15 years of age (53.3%). ENT infections and meningoencephalitis were the main origin in the same proportion (33.3%), followed by cyanotic congenital heart diseases (13.3%). Mortality rate was 20% and two survivors (13.3%) showed very important motor sequel. One of them (6.6%), also had a partial epilepsy. Our results recall the need for a better knowledge of pathogenesis and treatment of these patients.
Subject(s)
Brain Abscess , Adolescent , Brain Abscess/complications , Brain Abscess/etiology , Child , Child, Preschool , Female , Humans , Infant , MaleABSTRACT
Abdominal ultrasound imaging performed in 100 children with recurrent abdominal pain have been reviewed. Organic abnormalities were found in 7% of cases. It is emphasized the importance of a careful clinical history, physical examination as well as biological and bacteriological investigations before abdominal echography. In spite of that we believe abdominal ultrasonography is useful in this type of patients, even when non-organic causes are suspected, because of its harmlessness. If the study were normal, others more aggressive explorations could be avoided.
Subject(s)
Abdomen , Pain , Ultrasonography , Adolescent , Child , Child, Preschool , Female , Humans , Male , Pain/etiology , Recurrence , Retrospective StudiesABSTRACT
An extracranial arteriovenous fistula case, placed in vertebral artery territory that dealt with congestive heart failure and which developed advantageously without a surgical treatment is shown. Authors emphasize the fact of being a rarity the so premature beginning of the signs in a arteriovenous communication at that level, results in Doppler duplex echography and the need to have in count this entity previous to congestive heart failure with a deep origin in neonatal period.
