RESUMO
Achalasia is an uncommon esophageal motor disorder. It has been associated with other diseases such as Parkinson's disease and depressive disorders, but coincidence of achalasia and Down's syndrome is rare. We report five cases of achalasia in Down's syndrome patients seen in our institution. Two of the five cases were diagnosed at pediatric age. Respiratory symptoms and growth retardation were the main clinical manifestations in pediatric patients, whereas adult patients mainly complained of dysphagia. Taking into account the prevalence rate of both disorders, the association seems higher than that expected by chance. The possible etiopathogenic implications of this association, as well as its clinical relevance, are discussed.
Assuntos
Síndrome de Down/complicações , Acalasia Esofágica/etiologia , Adolescente , Adulto , Transtornos de Deglutição/etiologia , Acalasia Esofágica/complicações , Acalasia Esofágica/diagnóstico , Feminino , Transtornos do Crescimento/etiologia , Humanos , Lactente , Masculino , Manometria , Transtornos Respiratórios/etiologiaRESUMO
We report on two further cases, a sister and a brother, with Schinzel-Giedion syndrome. Both presented the following manifestations: "coarse face" with midface retraction, agenesis of corpus callosum, bilateral hydronephrosis, and typical skeletal anomalies. Patient 1 had a malignant sacrococcygeal teratoma. This is the third case of malignancy in this syndrome. Patient 2 died shortly after birth.
Assuntos
Anormalidades Múltiplas/genética , Face/anormalidades , Região Sacrococcígea , Teratoma/genética , Anormalidades Múltiplas/patologia , Família , Feminino , Humanos , Recém-Nascido , Masculino , SíndromeRESUMO
In addition to analyse fourteen sudden infant death syndrome cases authors review main epidemiologic and morphologic knowledges, pointing out up to date investigations on the fields of biochemistry and ultrastructural morphology.
Assuntos
Morte Súbita do Lactente/fisiopatologia , Índice de Apgar , Peso Corporal , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Morte Súbita do Lactente/patologiaAssuntos
Doenças do Recém-Nascido/diagnóstico por imagem , Otite Média/diagnóstico por imagem , Sinusite/diagnóstico por imagem , Osso Temporal/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Masculino , Seio Maxilar/diagnóstico por imagem , Osteomielite/diagnóstico por imagem , Cintilografia , TecnécioRESUMO
Two female patients with stasis dermatitis developed allergic contact dermatitis to hydrocortisone 17-butyrate cream. Patch tests with hydrocortisone 17-butyrate were positive, but not with the vehicle. One patient was also allergic to two other commerical corticosteroids, but patch tests revealed positive reactions only to ingredients of the vehicles. Attention is drawn to the frequency of contact allergy to corticosteroids in patients with stasis dermatitis.