RESUMO
The anti-Hu syndrome is a well-known paraneoplastic syndrome and may be rarely seen in patients with neuroblastoma. However, it is relatively unknown that anti-Hu antibodies can cause gastro-intestinal signs and symptoms. We report on a child with neuroblastoma who presented with gastro-intestinal disturbances as a result of the anti-Hu syndrome and summaries two similar case reports reported in literature. Neuroblastoma patients with gastro-intestinal disturbances, ranging from constipation to a paralytic ileus, might suffer from the gastro-intestinal anti-Hu syndrome. The causative antibodies can be determined to diagnose or exclude this syndrome, and successful treatment is possible.
Assuntos
Autoanticorpos/imunologia , Proteínas ELAV/imunologia , Gastroenteropatias/complicações , Gastroenteropatias/diagnóstico , Neuroblastoma/complicações , Síndromes Paraneoplásicas/complicações , Síndromes Paraneoplásicas/diagnóstico , Autoanticorpos/análise , Pré-Escolar , Gastroenteropatias/imunologia , Humanos , Masculino , Neuroblastoma/diagnóstico , Síndromes Paraneoplásicas/imunologiaRESUMO
A 12.5-year-old girl with diabetes mellitus type 1 presented with stunted growth and an increase in body weight. Also, her blood-sugar levels were difficult to manage. An adrenocorticotropin-(ACTH)-independent form of Cushing's syndrome was diagnosed. During the dexamethasone-suppression test, a paradoxical increase in urinary-free cortisol excretion was observed, which is a clear indication of primary pigmented nodular adrenocortical disease (PPNAD). The treatment for patients with PPNAD is bilateral adrenalectomy and hormone substitution. PPNAD may be part of the Carney complex, an autosomal dominant multiple neoplasia syndrome. Screening of family members is mandatory. Further investigation for mutations in the gene encoding the regulatory subunit 1A of the protein kinase A (PRKAR1A) may be helpful.
Assuntos
Doenças do Córtex Suprarrenal/diagnóstico , Síndrome de Cushing/diagnóstico , Mutação , Doenças do Córtex Suprarrenal/genética , Doenças do Córtex Suprarrenal/patologia , Doenças do Córtex Suprarrenal/cirurgia , Adrenalectomia , Hormônio Adrenocorticotrópico/metabolismo , Criança , Síndrome de Cushing/genética , Síndrome de Cushing/patologia , Síndrome de Cushing/cirurgia , Proteínas Quinases Dependentes de AMP Cíclico/genética , Dexametasona , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/complicações , Feminino , Humanos , Hidrocortisona/urinaRESUMO
Three children, two boys aged 5 years and one 2-year-old girl, who were referred because of abdominal pain of variable duration, were found to have cystic malformations that arose from the pancreas. In the first boy, a traumatic pseudocyst was found that eventually turned out to have been caused by child abuse. The second boy had pseudocysts complicating chronic pancreatitis of presumably hereditary origin. In the girl, a congenital pancreatic cyst was found. Pancreatic disease, although rare, should be considered in the differential diagnosis of abdominal pain in children.
Assuntos
Dor Abdominal/etiologia , Pseudocisto Pancreático/diagnóstico , Maus-Tratos Infantis , Pré-Escolar , Doença Crônica , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pseudocisto Pancreático/congênito , Pseudocisto Pancreático/etiologia , Pancreatite/complicações , Pancreatite/genéticaRESUMO
OBJECTIVE: The presentation of sonographic and perinatal findings of tetrasomy 9p. METHODS AND RESULTS: Chorionic villus sampling and amniocentesis were performed at 19 weeks of gestation because of the sonographic findings of Dandy-Walker malformation with bilateral ventriculomegaly. Cytogenetic analysis showed 47,XX,+i psu dic(9)(pter->q12::q12>-pter). The pregnancy was terminated at 20 weeks of gestation at the request of the parents. At post-mortem examination, the presumed hypoplasia of the vermis could not be confirmed for technical reasons. No other pathological findings were seen. CONCLUSION: From our experience and from the literature, we conclude that Dandy-Walker malformation is an important finding in tetrasomy 9p. Chromosomal studies should be carried out in fetuses with sonographically detected Dandy-Walker malformation, even in the absence of other abnormalities.
Assuntos
Cromossomos Humanos Par 9 , Análise Citogenética/métodos , Síndrome de Dandy-Walker/diagnóstico , Doenças Fetais/diagnóstico , Diagnóstico Pré-Natal , Adulto , Líquido Amniótico/citologia , Aneuploidia , Síndrome de Dandy-Walker/diagnóstico por imagem , Síndrome de Dandy-Walker/embriologia , Síndrome de Dandy-Walker/genética , Feminino , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/genética , Idade Gestacional , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Gravidez , Ultrassonografia Pré-Natal/métodosRESUMO
A grandmother, her three children, and three grandchildren had skeletal abnormalities consisting of a short stature, bilateral symmetrical very short, broad and bowed radii, very short and broad ulna, mildly short lower legs, short proximal end of fibula, abnormal ankles, abnormal calcaneus and talus and pes equinus. They had normal craniofacial features, normal intelligence and normal chromosomes. We concluded that this skeletal dysplasia resembles the autosomal dominant mesomelic dysplasia, Kantaputra type. Prenatal diagnosis by ultrasound examination early in the pregnancy was possible. We found no evidence for a SHOX gene deletion or point mutation. As far as we know this is the third reported family with this skeletal dysplasia.