RESUMO
Brachmann-de Lange syndrome is characterized by pre- and postnatal growth retardation, microbrachycephaly, hirsutism, various visceral and limb anomalies and a typical face. A sonographic prenatal diagnosis at mid-trimester is reported in a case of severe, symmetrical fetal growth delay at 20 weeks gestation, with a thickened skin on the forehead, a small nose and a marked depressed nasal bridge, a long philtrum, micrognathia and a persistently flexed right forearm, with a single bone associated to oligodactyly. Due to the severe mental impairment with a commonly estimated intelligence quotient under 60, the pregnancy was terminated after parental consent.
Assuntos
Síndrome de Cornélia de Lange/complicações , Retardo do Crescimento Fetal/etiologia , Transtornos do Crescimento/etiologia , Adulto , Anormalidades Craniofaciais/etiologia , Síndrome de Cornélia de Lange/diagnóstico , Feminino , Idade Gestacional , Hirsutismo/etiologia , Humanos , Deficiência Intelectual/etiologia , Deformidades Congênitas dos Membros , Masculino , Gravidez , Ultrassonografia Pré-NatalRESUMO
BACKGROUND: The Pays de Loire has a low perinatal mortality indicators among French regions but this could be due to under-notification. OBJECTS: To explore this hypothesis we undertook a survey in order to identify all fetal and neonatal deaths occurring at a gestionnal age of 22 weeks or more. We also tried to examine and analyze the causes of death. METHODS: All maternity (26) and neonatal wards (5) in the region took part in the survey in 1995. Clinicians were asked to fill out a questionnaire for all deaths occurring from gestational age (GA) 22 weeks and/or concerning a birthweight of a least 500 g. Only perinatal deaths related to parents living in the Pays de Loire were included in the study. RESULTS: Two hundred and sixty seven perinatal deaths were identified out of a total 29,440 births (9.1 /1000). Eighty three (2.8 /1000) were termination of pregnancy for medical reasons, of which 82% were motivated by chromosomic illness. Ninety-nine stillbirths fell (3.4 /1000) into two GA periods: 24 to 27 weeks (20%) and 38 to 41 weeks (2%). The cause of stillbirths remained unknown in 50% of cases despite a post-mortem examination rate of 87%. There were 29 deaths (1 /1000) in the immediate per and post-partum, 40% of which occurred at GA 22 to 25 weeks. Another 38% occurred at GA 36 to 40 weeks and these were related to undectected malformations or infections. Neonatal and intensive care units reported 56 neonatal deaths (1.9 /1000). GA was under 33 weeks for 44% of them. Deaths were caused by usual complications of severe prematurity, neurologic diseases and malformations. Thirty-two percent of total deaths were not notified to the French Authority: 25% of deaths for termination of pregnancy for medical reasons and 7% for stillbirths and per and post partum deaths. CONCLUSION: This survey suggests that the Pays de Loire perinatal mortality indicators remained low compared with other French regions, even after adjustment for this under notification. This casts doubts on the validity of perinatal mortality monitoring based on official notifications. The cause may lie in the inadequacy of legislation of the particular circumstances of perinatal deaths.
Assuntos
Morte Fetal/epidemiologia , Mortalidade Infantil , Segundo Trimestre da Gravidez , Aborto Induzido/estatística & dados numéricos , Viés , Causas de Morte , Feminino , Morte Fetal/etiologia , França/epidemiologia , Idade Gestacional , Humanos , Incidência , Recém-Nascido , Vigilância da População/métodos , Gravidez , Estudos Prospectivos , Reprodutibilidade dos Testes , Inquéritos e QuestionáriosRESUMO
A diagnosis of Apert syndrome, suspected at 24 weeks' gestation after conventional sonography showing turribrachycephaly and syndactyly of hands and feet, was confirmed at 26 weeks' gestation by tridimensional sonography and magnetic resonance imaging. This is only the second prenatal diagnosis reported at mid-trimester, excluding cases published from affected mothers or in connection with a context of recurrence. Additional findings have been collected from tridimensional sonography (mid-facial hypoplasia, downslanting palpebral fissures) and from magnetic resonance imaging (verticalization of the clivus and flattened angle of the cranial base).
Assuntos
Acrocefalossindactilia/diagnóstico por imagem , Imageamento por Ressonância Magnética , Ultrassonografia Pré-Natal , Adulto , Feminino , Humanos , Gravidez , Segundo Trimestre da GravidezRESUMO
INTRODUCTION: Neuroendocrine tumors are rare, with poor prognosis when not or poorly differentiated. EXEGESIS: The authors report the case of a patient who presented with a metastatic poorly differentiated neuroendocrine tumor that was resistant to chemotherapy. The different sites of the carcinoma were lung, pancreas, kidney and lymph nodes. The patient received no treatment and complete spontaneous remission appeared after 21 months. This remission has been lasting for five years. CONCLUSION: It is the first case of spontaneous remission of a metastatic poorly differentiated neuroendocrine tumor. The evolution and classical sites of neuroendocrine tumors are reviewed. Renal metastasis is also unusual. This report illustrates the fact that neuroendocrine tumors are heterogeneous.
Assuntos
Regressão Neoplásica Espontânea , Tumores Neuroendócrinos/secundário , Seguimentos , Humanos , Neoplasias Renais/patologia , Neoplasias Renais/secundário , Neoplasias Pulmonares/patologia , Metástase Linfática/patologia , Masculino , Pessoa de Meia-Idade , Tumores Neuroendócrinos/patologia , Neoplasias Pancreáticas/patologia , Neoplasias Pancreáticas/secundário , Prognóstico , Nódulo Pulmonar Solitário/patologiaRESUMO
Persisting spongy myocardium (also known as noncompaction of the ventricular myocardium) is a rare and special form of cardiomyopathy. The few cases reported in the literature were detected postnatally and involved a high rate of cardiovascular complications. This anomaly of endomyocardial morphogenesis, which occurs during the embryonic phase at the stage of cardiac partitioning, is characterised by an excessive number of prominent trabeculae and by intertrabecular recesses within the myocardial wall. Antenatal detection is difficult in the absence of an associated malformation, which is the general situation. We report a case of antenatal cardiomyopathy which led to therapeutic abortion. The diagnosis of persisting spongy myocardium was made during fetopathologic examination.
Assuntos
Doenças Fetais/diagnóstico , Cardiopatias Congênitas/diagnóstico , Diagnóstico Pré-Natal , Aborto Terapêutico , Adulto , Feminino , Coração/embriologia , Ventrículos do Coração/anormalidades , Humanos , Gravidez , Prognóstico , Ultrassonografia Pré-NatalRESUMO
We describe the combined use of comparative genomic hybridization (CGH) and fluorecence in situ hybridization (FISH) to identify the origin of de novo unbalanced translocations in a fetus with abnormalities on ultrasound examination and in a newborn with multiple congenital abnormalities. RHG banding of amniocytes and lymphocytes respectively showed a unbalanced karyotype: 46,XX,add(4)(q34), with normal parental karyotypes in both cases. CGH revealed a gain of material from distal 15q (q23qter) in the fetus and a gain of distal 7q (q31qter) in the newborn. CGH results were confirmed using FISH with painting probes in both cases. These cases demonstrate the efficiency of CGH in identifying the chromosomal origin of extramaterial in unbalanced de novo translocations.
Assuntos
Cromossomos Humanos Par 4 , Genoma Humano , Diagnóstico Pré-Natal , Translocação Genética , Cromossomos Humanos Par 15 , Cromossomos Humanos Par 7 , Feminino , Marcadores Genéticos , Humanos , Hibridização in Situ Fluorescente , Recém-NascidoRESUMO
BACKGROUND: Refractory hypoxemia in the newborn requires a precise diagnostic investigation for optimal and fast management. CASE REPORT: A full term newborn presented with refractory hypoxemia associated with radiologically clear lung fields and extrapulmonary shunt. Echocardiography ruled out a cardiac malformation. The persistence of hypoxemia despite treatment of the extrapulmonary shunt and the absence of parenchymatous pulmonary disease led to suspect misaligned lung vessels with alveolar capillary dysplasia. This diagnosis was confirmed by post mortem microscopic examination of the lung. CONCLUSION: The diagnosis of misaligned lung vessels with alveolar capillary dysplasia can be suspected on clinical features. The disposition of pulmonary veins must be checked to recognize this disease in case of neonatal death with pulmonary hypertension.
Assuntos
Capilares/patologia , Hipóxia/etiologia , Alvéolos Pulmonares/irrigação sanguínea , Veias Pulmonares/anormalidades , Diagnóstico Diferencial , Humanos , Hipóxia/diagnóstico , Recém-Nascido , Pulmão/patologia , Masculino , Veias Pulmonares/patologiaRESUMO
The purpose of this study was to demonstrate the potential usefulness of the combination of gadolinium and dysprosium to enhance the different between normal and necrotic liver tissue. Small regions of acute necrosis were induced by injecting 200-300 microliters of 95% alcohol into the liver of 26 rats. MRI was performed 24 hours after necrosis induction, before and immediately after injection of one or both contrast agents. Using a mixed T1/T2-weighted sequence, the signal intensity of (SI) of the normal liver was reduced by 70%, whereas the necrotic regions had more than a 50% increase in SI after double contrast. The region that was enhanced corresponded largely with the region of necrosis as observed postmortem. The lesion size, when identified, was largely underestimated using either of the agents along, albeit using the common pulse sequences. The double contrast effect of simultaneous administration of gadolinium and dysprosium allows accurate delineation of liver necrosis.
Assuntos
Meios de Contraste/administração & dosagem , Disprósio/administração & dosagem , Hepatopatias/patologia , Fígado/patologia , Imageamento por Ressonância Magnética/métodos , Compostos Organometálicos/administração & dosagem , Ácido Pentético/análogos & derivados , Intensificação de Imagem Radiográfica/métodos , Animais , Modelos Animais de Doenças , Hepatopatias/diagnóstico , Masculino , Necrose , Ácido Pentético/administração & dosagem , Ratos , Ratos Endogâmicos , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: Hepatoportal sclerosis is uncommon in European countries and its diagnosis is difficult. The etiology remains unknown; its familial origin is probably exceptional. CASE REPORT: An 18-month-old girl born to a mother with hepatoportal sclerosis had hepatomegaly. She also had a moderate splenomegaly and mild increase transaminase and gamma GT activities. Ultrasound examination failed to show portal hypertension. Histological study of liver showed changes quite similar to those seen in her mother. Two members of the mother's family had portal hypertension. DISCUSSION: Familial forms of portal hypertension have been reported: a familial form of incomplete septal cirrhosis and a familial occurrence of cavernous transformation of the portal vein. Obstruction of the portal vessels was not found in our patient, the youngest in whom hepatoportal sclerosis is documented.
Assuntos
Hipertensão Portal/genética , Fígado/patologia , Veia Porta/patologia , Biópsia , Feminino , Humanos , Hipertensão Portal/patologia , Lactente , EscleroseRESUMO
BACKGROUND: Respiratory diseases associated with ulcerative colitis are rare. CASE REPORT: A 14-year-old girl with ulcerative colitis was admitted for a left pneumothorax. She was given corticoidsteroids and enemas of 5 aminosalicylic acid. The pneumothorax was not controlled by pleural drainage and a pleural irritation was performed under thoracoscopy. Recurrence of pneumothorax led to surgical pleurectomy. The following day, a right pneumothorax occurred, also requiring pleurectomy. The pulmonary biopsies showed constrictive bronchiolitis. A restrictive syndrome was confirmed by functional pulmonary examinations. Total colectomy was performed nine months later for the ulcerative colitis. COMMENTS: Ulcerative colitis can be associated with bronchial pathology (bronchitis, bronchiectasis). Occurrence of pneumothorax has never been described; it can be a fortuitous association, but the histological features are not very different from those described in association with ulcerative colitis. The treatment of pneumothorax is difficult if the ulcerative colitis requires corticosteroids.
Assuntos
Colite Ulcerativa/complicações , Pneumotórax/complicações , Adolescente , Corticosteroides/uso terapêutico , Ácidos Aminossalicílicos/uso terapêutico , Anti-Inflamatórios não Esteroides/uso terapêutico , Colite Ulcerativa/tratamento farmacológico , Feminino , Humanos , Mesalamina , RecidivaRESUMO
BACKGROUND: Post-mortem examination of infants with sudden infant death syndrome (SIDS) is essential for understanding the cause and/or mechanism of death. This study aims to evaluate the contributions of heart in SIDS. POPULATION AND METHODS: Between 1981 and 1990, the CHU of Nantes carried out autopsies on 162 cases of sudden infant death syndrome. One hundred files were accepted for this retrospective study because a second recent macroscopic and microscopic (11 samples for each heart) examination of heart was possible. RESULTS: The weight of hearts was not increased, except in one case. Macroscopic examination did not reveal any cardiac abnormalities. Histological examination confirmed the lesions initially observed in 11 cases and probably responsible for their death. CONCLUSIONS: This study underlines the importance of studying numerous samples of each heart of microscopic examination of many sections.
Assuntos
Miocárdio/patologia , Morte Súbita do Lactente/patologia , Autopsia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos RetrospectivosRESUMO
Two cases of osteitis condensans of the medial clavicle with an unusual course toward spontaneous resolution of clinical and roentgenographic manifestations are reported. The relevant literature is reviewed. A pathogenic hypothesis for condensing osteitis of the clavicle, ilium, and pubis is suggested. At all these sites, the sclerosis occurs in bone overlaid by fibrocartilage. In contrast, joint aspects spared by the sclerosis are covered with hyaline cartilage. We report data documenting this fact at the sternoclavicular joint.
Assuntos
Clavícula/diagnóstico por imagem , Osteíte/diagnóstico por imagem , Adulto , Clavícula/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Osteíte/etiologia , Osteíte/patologia , Radiografia , Remissão EspontâneaRESUMO
Intestinal endosalpingiosis (ES) involving colon or small bowel is a rare, misleading disease. Two different aspects must be distinguished:--serosal involvement, more or less disseminated: this form is asymptomatic or associated with ascites leading to the diagnosis of peritoneal pseudo-carcinomatosis; in this form of typical or atypical endosalpingiosis of florid type, no malignancy is found on histology;--parietal involvement, leading to stenosis or intestinal perforation with enterocutaneous fistula: this malignant form of endosalpingiosis is similar to primary papillary peritoneal carcinoma or stage III ovarian carcinoma. These two forms of ES are studied on 2 cases illustrating the overlap between typical benign ES, proliferating ES and malignant ES.
Assuntos
Cistadenoma Seroso/complicações , Endometriose/complicações , Enteropatias/complicações , Doenças Ovarianas/complicações , Neoplasias Ovarianas/complicações , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Cistadenoma Seroso/cirurgia , Endometriose/tratamento farmacológico , Endometriose/patologia , Endometriose/cirurgia , Feminino , Humanos , Enteropatias/tratamento farmacológico , Enteropatias/patologia , Enteropatias/cirurgia , Pessoa de Meia-Idade , Doenças Ovarianas/cirurgia , Neoplasias Ovarianas/cirurgia , OvariectomiaRESUMO
Subzonal sperm insertion is an assisted insemination procedure to enhance IVF in patients with severe male factor. We report a lethal fetal abnormality that occurred in a SUZI-obtained pregnancy. It is essential that such cases be extensively collected to assess the feasibility of using this method in patients with severe semen defects.
Assuntos
Aborto Induzido , Fertilização in vitro , Adolescente , Feminino , Humanos , Inseminação Artificial Homóloga/métodos , Rim/anormalidades , Masculino , Diagnóstico Pré-Natal , Zona PelúcidaRESUMO
A pregnancy was terminated at 24 weeks of amenorrhea when tetraploidy (92 XXXX) was diagnosed in fetal blood subsequent to ultrasonographic detection of a polymalformation syndrome. The severity of the neurological deficit in tetraploid infants and their death before 2 years of age require that prenatal diagnosis by cordocentesis be performed for analysis of fetal blood in cases of equivocal and nonspecific polymalformation syndrome and justify that medically-induced termination of pregnancy is suggested in the event of intrauterine tetraploidy diagnosis.
Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Aberrações Cromossômicas/diagnóstico , Doenças Fetais/diagnóstico por imagem , Poliploidia , Ultrassonografia Pré-Natal , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Aborto Terapêutico , Adulto , Encéfalo/anormalidades , Transtornos Cromossômicos , Fenda Labial/genética , Cordocentese , Feminino , Sangue Fetal , Doenças Fetais/genética , Doenças Fetais/patologia , Dedos/anormalidades , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/genética , Cariotipagem , Rim/anormalidades , Idade Materna , Gravidez , Segundo Trimestre da Gravidez , Gravidez de Alto RiscoRESUMO
Fibromatosis is a fibroblastic proliferation which has infiltrative properties and which is not expected to metastasize. Mammary fibromatosis is infrequent. Clinically, it may mimic breast carcinoma. So, the diagnosis is made from the microscopic examination. Wide local excision is the treatment of choice. But, local recurrence are frequent.
Assuntos
Neoplasias da Mama/patologia , Fibroma/patologia , Adulto , Feminino , HumanosRESUMO
Among conjoined twins (1 out 50000 births), thoracopagus occurs most frequently and is generally lethal. Our anatomical study of five sets of sternopagus twins (3 female, 2 male) was performed to determine the ability of prenatal sonography to detect these anomalies. Autopsy in four cases revealed identical malformations: common sternum, single malformed heart, joined hepatic parenchyma, and a common small bowel leading to a cystic dilatation situated on the ileal segment at the end of the superior mesenteric artery. The diagnosis of conjoined twins was made in all cases by prenatal sonography at the mean time of 24.6 gestation weeks (range 19-34). The malformations detected by prenatal sonography were a single cardiac mass (all cases), joined hepatic parenchymas (3 cases), and an ileal cystic dilatation (1 case). Pregnancy was terminated in four cases. In one case cesarean delivery was performed, and the infants died 48 hours later. Prenatal sonography currently seems to be the best examination for diagnosis of sternopagus twins and the detection of lethal malformations thus allowing interruption of pregnancy.
Assuntos
Gêmeos Unidos/patologia , Ultrassonografia Pré-Natal , Aborto Eugênico , Feminino , Humanos , Masculino , GravidezRESUMO
This case report illustrates the different anatomopathologic patterns and evolutive potentials of perilobar nephroblastomatosis described by Beckwith. The latter differs from those of an intralobar nephroblastomatosis. The evolutive possibilities of nephroblastomatosis underline the importance of imaging technology in the diagnosis and control of such lesions, as well as the role of chemotherapy and above all the caution required in the indications for surgery.
Assuntos
Neoplasias Renais/patologia , Tumor de Wilms/patologia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Pré-Escolar , Feminino , Humanos , Neoplasias Renais/diagnóstico , Neoplasias Renais/tratamento farmacológico , Prognóstico , Fatores de Tempo , Tumor de Wilms/diagnóstico , Tumor de Wilms/tratamento farmacológicoRESUMO
The authors report on a case of hepatic cyst with neonatal diagnosis. The cyst resulted in neonatal respiratory distress leading to emergency surgery (partial cystectomy). Histological examination revealed the presence of a cystic hamartoma. This cases provides the basis for a discussion on the diagnosis of a neonatal abdominal cystic tumor and the nature of the hepatic cyst in the neonate.