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1.
Ultrasound Obstet Gynecol ; 38(2): 229-32, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21800389

RESUMO

Fetal choroid plexus tumors are uncommon. The prognosis is widely variable and depends on the histological findings: papilloma or carcinoma. We report a case of prenatal diagnosis of choroid plexus mass detected by ultrasound at 33 weeks of gestation. Prenatal (T1, T2, T2* and diffusion weighted sequences) magnetic resonance imaging (MRI) was used to rule out a hematoma. Follow-up examination by ultrasound and MRI revealed a significant increase in the volume of the mass, suggesting a diagnosis of malignant tumor. A healthy neonate was delivered by Cesarean section at 38 weeks of gestation. Full surgical excision of the tumor was performed at 20 days after delivery and histological analysis revealed a papilloma.


Assuntos
Carcinoma/diagnóstico , Neoplasias do Plexo Corióideo/diagnóstico , Papiloma do Plexo Corióideo/diagnóstico , Diagnóstico Pré-Natal/métodos , Adulto , Carcinoma/embriologia , Carcinoma/patologia , Neoplasias do Plexo Corióideo/embriologia , Neoplasias do Plexo Corióideo/patologia , Diagnóstico Diferencial , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Papiloma do Plexo Corióideo/embriologia , Papiloma do Plexo Corióideo/patologia , Gravidez , Prognóstico , Ultrassonografia Pré-Natal
2.
Arch Pediatr ; 16 Suppl 1: S38-41, 2009 Sep.
Artigo em Francês | MEDLINE | ID: mdl-19836666

RESUMO

Recommendations issued by the French Health Ministry include ocular screening in the first days of life and at 2 and 4 months. The aim is to detect ocular abnormalities requiring early treatment, in order to improve the prognosis. Paediatricians working in the nursery should therefore be trained in order to perform ocular screening, which requires using an ophthalmoscope. This is not yet common practice in all nurseries. Red-reflex is one of the most important elements of testing. Possible diagnoses suggested by abnormal red-reflex include retinoblastoma, or abnormalities of eye transparency, such as cataract. Any detected ocular abnormality requires specialised consultation. At the present time, paediatricians remain insufficiently aware and trained about ocular screening.


Assuntos
Testes Obrigatórios/normas , Acuidade Visual , Piscadela , Visão de Cores , Neoplasias Oculares/diagnóstico , Família , Feminino , França , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Retinoblastoma/diagnóstico
3.
J Pediatr Endocrinol Metab ; 18(6): 569-75, 2005 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16042324

RESUMO

UNLABELLED: Male pseudohermaphroditism (MPH) is the abnormal development of genitalia in an individual with a 46,XY chromosome complement and testicular tissue. The etiology of MPH is unknown in most cases, which are defined as idiopathic. OBJECTIVE: To analyze the data for cases of idiopathic MPH. PATIENTS AND METHODS: A retrospective study of 29 patients with idiopathic MPH and no uterus. RESULTS: Four patients had a family history of abnormal sexual development and five had low birth weight. The initial manifestations were sexual ambiguity (26), microphallus and hypospadias (2), and primary amenorrhea (1). Basal and/or stimulated testosterone concentrations showed insufficient testosterone secretion in three patients. Genitography showed a vagina in 13 patients. Male genitoplasties were performed on 21 out of the 24 patients reared as males and female genitoplasties on five patients. Histological studies of the gonads of these showed streak gonads in one, normal gonads in one and signs of testicular dysgenesis in three others. Molecular studies on the SRY gene (17) showed no mutation. CONCLUSIONS: Idiopathic male pseudohermaphroditism is a heterogeneous condition, even within families with a history of this condition. We propose a set of guidelines for the management of these patients.


Assuntos
Transtornos do Desenvolvimento Sexual/terapia , Adolescente , Criança , Pré-Escolar , DNA/genética , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/patologia , Feminino , Genes sry/genética , Genitália/anormalidades , Genitália/cirurgia , Hormônios/sangue , Humanos , Lactente , Recém-Nascido , Leucócitos/ultraestrutura , Masculino , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Aberrações dos Cromossomos Sexuais , Testículo/anormalidades , Testículo/patologia , Testículo/cirurgia
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