RESUMO
BACKGROUND: Quantifying the histopathological diagnoses of appendectomies in daily routine paidopathology results in a high percentage of appendices without histomorphological sign of acute inflammation. To identify clinical factors significantly associated with the morphological diagnosis, histopathological findings and clinical data--documented in patients' files--were examined. PATIENTS: All 856 children (age: 5 m-15 yrs) whose appendix had been resected within a 7-year-period were--depending on the histopathological diagnoses--allocated to the group "appendix without" resp. "appendix with signs of acute inflammation". METHOD: All files were examined concerning anamnestic data, clinical signs of acute appendicitis and laboratory parameters. The data were analysed by χ(2)-test and Wilcoxon-test concerning differences between the 2 groups with regard to the anamnestic and clinical facts and parameters. Using binary logistic regression, these clinical parameters were analyzed in correlation with the histopathological diagnoses. RESULTS: By consideration of the factors "leucocyte count", "vomiting" and "percussion tenderness" 75% of the children would have been allocated to the accurate postoperative pathomorphological diagnosis. CONCLUSIONS: There was a significant correlation of "leucocyte count", "vomiting" and "percussion tenderness" with histopathology in 75% of the children. As hence 25% were not allocated correctly this combination is no unequivocal combination for prediction or exclusion of an acute appendicitis. Hence, even with these statistically significant parameters a comparably high percentage of falsely-positive appendectomies has to be anticipated.
Assuntos
Apendicite/diagnóstico , Apendicite/patologia , Apêndice/patologia , Adolescente , Apendicectomia , Apendicite/cirurgia , Criança , Pré-Escolar , Erros de Diagnóstico , Feminino , Humanos , Lactente , Contagem de Leucócitos , Masculino , Percussão , Estudos Retrospectivos , Estatística como Assunto , Vômito/etiologiaRESUMO
Contrary to chromosomal aberrations, which can be recognized by cytogenetic procedures alone, monogenic inherited diseases are determined exclusively by evidence from anatomical-pathological investigations. We present a computer-assisted optical system providing not only efficient dissections of embryos, but also diagnosis of congenital defects, such as congenital heart deformities, neural tube defects and skeletal malformations. A stereomicroscope with an integrated camera as well as two cold light sources creates a three-dimensional image of the human embryo (size: e.g., 2.5 mm=23.-25.d), hence facilitating handling of the autopsy. Scenes of interest are photodocumented by a multifocusing camera. Its technique is based on serial pictures of predefined levels of the embryo, consecutively adding up to one photograph with minimized areas out of focus. The sequences, the rapid as well as exact calibration of the screened objects and digital archiving of the obtained photographs allow efficient diagnostic procedures. As the depth of field is broadened, the computer-assisted workplace improves the diagnosis as well as documentation, providing a base for genetic counseling.
Assuntos
Anatomia/métodos , Aberrações Cromossômicas/embriologia , Embrião de Mamíferos/patologia , Patologia/métodos , Anormalidades Cardiovasculares/embriologia , Anormalidades Cardiovasculares/patologia , Sistemas Computacionais , Dissecação/métodos , Dissecação/normas , Documentação/métodos , Feminino , Humanos , Defeitos do Tubo Neural/embriologia , Defeitos do Tubo Neural/patologia , GravidezAssuntos
Hemangioma/congênito , Hemangioma/diagnóstico , Neoplasias Parotídeas/congênito , Neoplasias Parotídeas/diagnóstico , Antígenos CD34/análise , Biomarcadores Tumorais/análise , Diagnóstico Diferencial , Feminino , Hemangioma/patologia , Hemangioma/cirurgia , Humanos , Lactente , Invasividade Neoplásica , Glândula Parótida/patologia , Neoplasias Parotídeas/patologia , Neoplasias Parotídeas/cirurgia , Tomografia Computadorizada por Raios X , UltrassonografiaRESUMO
BACKGROUND: Cutaneous lesions of atypical mycobacteriosis are very rare in Western Europe. Both the slow disease progression and the rather unspecific clinical appearance of the chronic infiltration render cutaneous mycobacteriosis a diagnostic challenge. In this communication, we present an uncommon, biphasic course of a cutaneous atypical mycobacteriosis. CASE REPORT: A 3-year-old child was referred to our institution due to submandibular cutaneous infiltration together with subcutaneous abscess formation. There was no carious lesion or other odontogenic potential source of infection. First-line therapy was incision of the abscess and local curettage to obtain a specimen for histologic and microbiologic evaluation, which revealed atypical mycobacteria. In spite of local curettage, only partial remission of the cutaneous infiltration was achieved. When the child was readmitted 9 months later, the lesion had progressed to a scrofulosis-like appearance even though specific antibiotic treatment had been administered. Complete surgical excision of the affected skin and extirpation of the respective lymph node and fistula was performed as second-line therapy. Complete remission was achieved without further adjuvant treatment. DISCUSSION: Our case demonstrates the problems that may arise with this rare type of mycobacterial infection. In all probability, scratch artifacts due to atopic dermatitis provided the source/entry of the infection in this specific case. Both histopathologic findings and clinical appearance were suggestive of classic cutaneous tuberculosis (tuberculosis cutis colliquativa), although it was in fact an atypical mycobacteriosis. Furthermore, obstinate persistence after minor surgical intervention and even after specific (triple) antibiotic treatment illustrates the difficulties of limited, minimally invasive treatment.
Assuntos
Abscesso/diagnóstico , Fístula Cutânea/diagnóstico , Dermatoses Faciais/diagnóstico , Infecções por Mycobacterium não Tuberculosas/diagnóstico , Abscesso/patologia , Abscesso/cirurgia , Biópsia , Pré-Escolar , Fístula Cutânea/patologia , Fístula Cutânea/cirurgia , Dermatoses Faciais/patologia , Dermatoses Faciais/cirurgia , Feminino , Granuloma de Células Gigantes/diagnóstico , Granuloma de Células Gigantes/patologia , Granuloma de Células Gigantes/cirurgia , Humanos , Excisão de Linfonodo , Linfonodos/patologia , Linfadenite/diagnóstico , Linfadenite/patologia , Linfadenite/cirurgia , Infecções por Mycobacterium não Tuberculosas/patologia , Infecções por Mycobacterium não Tuberculosas/cirurgia , Pele/patologiaRESUMO
Hirschsprung's disease (HD, aganglionosis) is the most important form of congenital disturbance of intestinal innervation, requiring surgical intervention. Furthermore, hypoganglionosis of the transitional zone forms the most significant factor in morbidity. Pre-operative definition of the length of neuronally disturbed segment is still a diagnostic challenge for both clinical physician and pathologist. Enzyme histochemical studies form the method of choice, but certain limitations in their use must be observed. Other dysganglionoses, particularly the so-called "Intestinal Neuronal Dysplasia" (IND) cannot-because of an excessive overlapping with age-correlated normal values-unequivocally be defined as an entity on its own. The only exception to this, is the ganglionic neuromatosis, which arises as part of a genetic illness.
Assuntos
Doença de Hirschsprung/patologia , Diagnóstico Diferencial , Ganglioneuroma/patologia , Doença de Hirschsprung/cirurgia , Humanos , Recém-NascidoRESUMO
Ectopic umbilical pancreatic tissue is extremely rare. We report on a case of a two-year-old boy who suffered from a large recurrent supraumbilical tumour with central cystic degeneration. Ectopic pancreatic tissue was located within the submucosal layer of an umbilical rest of the omphaloenteric duct. Peptic erosion and inflammatory alteration of tissue surrounding the umbilical vein caused recurrent bleeding and formation of a pseudocyst as well as chronical inflammatory granulations within the abdominal wall.
Assuntos
Coristoma , Pâncreas , Pseudocisto Pancreático/etiologia , Humanos , Lactente , Laparotomia , Masculino , Pseudocisto Pancreático/cirurgia , UmbigoRESUMO
BACKGROUND: Malignant tumors of the paranasal sinuses, such as rhabdomyosarcoma or Ewing's tumors, often have a mesenchymal origin. In the recent years, several prospective, randomized, multicenter studies have demonstrated a better outcome after new oncology therapy protocols. PATIENTS AND RESULTS: In the period from January 2000 to June 2001, we operated 610 patients with sinus disease. Only 23/610 were children or teenagers (3.8%). Half of the juvenile group suffered from chronic sinusitis, but 5/23 (22%) had a malignoma of the paranasal sinuses. In the adult population, malignoma was diagnosed in less than 1% of cases. We diagnosed and treated, in cooperation with our radiology, pathology and children's hematooncology department, one rhabdomyosarcoma, two malignant peripheral neuroectodermal tumors (PNET), one myelosarcoma and one malignant lymphoma in the paranasal sinuses. Two patients died. SUMMARY AND CONCLUSION: These five cases of paranasal sinus malignomas are discussed in relation to their history and clinical course. We suggest that interdisciplinary treatment involving otorhinolaryngology, pathology, children's hematooncology, radiology and radiation therapy is obligatory for the therapy and for the best possible outcome of such cases.
Assuntos
Neoplasias dos Seios Paranasais/epidemiologia , Neoplasias dos Seios Paranasais/terapia , Equipe de Assistência ao Paciente , Medição de Risco/métodos , Adolescente , Terapia Combinada/métodos , Feminino , Alemanha/epidemiologia , Humanos , Incidência , Masculino , Neoplasias dos Seios Paranasais/classificação , Neoplasias dos Seios Paranasais/diagnóstico , Fatores de Risco , Resultado do TratamentoRESUMO
BACKGROUND: Adenomatoid odontogenic tumors (AOT) and calcifying odontogenic cysts (COC, Gorlin's cyst) are rare benign specificities of odontogenic tumors. Most odontogenic tumors are lesions of embryonic odontogenic tissue. Radiographically, odontogenic tumors may mimic an odontogenic follicular cyst. CASE REPORT: This paper describes the case of an 11-year-old female patient with a remarkable combination of these two entities. The lesions were found at the site of a retained first premolar and a persistent deciduous tooth 84 of the right lower jaw. Without clinical symptoms the tumor had expanded the vestibular cortical bone of the premolar region. Radiographically, the lesion appeared as a typical follicular cyst. During the operation, excochleation of the cyst was performed and the premolar was extracted. Finally, the epithelium of the cyst was treated by curettage. The histologic specimen revealed the diagnosis of an adenomatoid odontogenic tumor (AOT) in a calcifying odontogenic cyst (COC). DISCUSSION: The described case shows that symptoms of odontogenic tumors are usually nonspecific. For that reason one should always take a biopsy for histological investigation when patients present atypical cysts of the jaw. In rare cases even malignant odontogenic neoplasms could occur.
Assuntos
Dente Pré-Molar/diagnóstico por imagem , Neoplasias Mandibulares/diagnóstico por imagem , Neoplasias Primárias Múltiplas/diagnóstico por imagem , Cisto Odontogênico Calcificante/diagnóstico por imagem , Tumores Odontogênicos/diagnóstico por imagem , Radiografia Panorâmica , Dente Decíduo/diagnóstico por imagem , Dente não Erupcionado/diagnóstico por imagem , Dente Pré-Molar/patologia , Dente Pré-Molar/cirurgia , Criança , Diagnóstico Diferencial , Feminino , Humanos , Neoplasias Mandibulares/patologia , Neoplasias Mandibulares/cirurgia , Neoplasias Primárias Múltiplas/patologia , Neoplasias Primárias Múltiplas/cirurgia , Cisto Odontogênico Calcificante/patologia , Cisto Odontogênico Calcificante/cirurgia , Tumores Odontogênicos/patologia , Tumores Odontogênicos/cirurgia , Reoperação , Extração Dentária , Dente Decíduo/patologia , Dente Decíduo/cirurgia , Dente não Erupcionado/patologia , Dente não Erupcionado/cirurgiaRESUMO
The expression of inhibin-alpha subunit has been described in normal placentas, hydatidiform moles, and trophoblastic tumors. We performed a double immunohistochemical expression analysis of inhibin-alpha and inhibin-beta subunits in a cytogenetically well characterized series of 21 complete and 22 partial hydatidiform moles, 2 placental site trophoblastic tumors, and one choriocarcinoma. Syncytiotrophoblastic cells were consistently inhibin-alpha and inhibin-beta positive in all hydatidiform moles and in the one choriocarcinoma. Cytotrophoblast was negative for both subunits in all trophoblastic lesions studied. While villous intermediate trophoblastic cells were consistently inhibin-alpha negative in all hydatidiform moles, focal inhibin-beta immunoreactivity was detected in villous intermediate trophoblast in approximately one third of complete and partial hydatidiform moles. Decidual stromal cells in 40 hydatidiform moles were inhibin-alpha and inhibin-beta positive in approximately one third of cases. Both placental site trophoblastic tumors were inhibin-alpha positive but inhibin-beta negative. Our findings indicate that inhibin-alpha and -beta subunits are consistently coexpressed in syncytiotrophoblast in complete and partial moles. Immunohistochemical detection of inhibin subunits may be useful in the differential diagnosis of trophoblastic lesions.
Assuntos
Decídua/química , Mola Hidatiforme/metabolismo , Imuno-Histoquímica , Subunidades beta de Inibinas/análise , Inibinas/análise , Neoplasias Trofoblásticas/química , Neoplasias Uterinas/química , Coriocarcinoma/química , Feminino , Humanos , Mola Hidatiforme/genética , Cariotipagem , Gravidez , Células Estromais/químicaRESUMO
We report about the juvenile and adolescent pelvic type of CRMO in 7 girls and 4 boys. The results show from solitary up to 7 pelvic lesions (average 3 lesions) predominantly in the acetabular and paraacetabular region (sometimes with hip joint effusion as a sign for concomitant coxitis).Tc99m-bone-scan is helpful to evaluate exactly the pattern of bone affection. We find 3 stages of an primarily chronic, non-purulent osteomyelitis going along with a "plasma-cell-sclerotic process", leading to a Garrè-type sclerosing end-stage, which probably heals after some years spontaneously, projecting on clinical symptoms and radiological appearance. The concomitant coxitis ("sympathetic coxitis") is clinically often in the foreground, but reversible. Pain in case of CRMO responds surprisingly well on medication with acithromycine. Knowing about CRMO in its different clinical appearances - especially concerning what we call "sympathetic coxitis" - can be a useful for pediatric rheumatologists and orthopedic surgeons, as well as MRI-focused radiologists and pathologists. Therapy might find a useful drug in acithromycine. In conclusion we d like to point out, that CRMO is one entity under the "roof" of the so called SAPHO-syndrome, which again shows us, that SAPHO-syndrome ist not a diagnosis itself but more a sign-post on the way to a correct diagnosis.
Assuntos
Osteomielite , Ossos Pélvicos , Síndrome de Hiperostose Adquirida/diagnóstico , Adolescente , Adulto , Fatores Etários , Antibacterianos/administração & dosagem , Antibacterianos/uso terapêutico , Azitromicina/administração & dosagem , Azitromicina/uso terapêutico , Criança , Pré-Escolar , Doença Crônica , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Osteomielite/diagnóstico , Osteomielite/tratamento farmacológico , Osteomielite/patologia , Ossos Pélvicos/patologia , Recidiva , Fatores de TempoRESUMO
Comparative genomic hybridisation (CGH) represents an alternative molecular-cytogenetic technique capable of detecting chromosomal imbalances by reverse fluorescence in situ hybridisation. As the technique uses genomic DNA for assessment it does not rely on metaphase chromosomes in the test material and thus circumvents technical problems associated with tissue culturing. In the present study, we applied CGH to identify chromosome anomalies in 60 spontaneous abortions of the first trimester, that had failed to grow in culture. In 57 out of 60 cases CGH analyses were successful. The overall aneuploidy rate detected was 72%. Trisomy was the predominant chromosome anomaly accounting for 68.0% of abnormal abortions, followed by triploidy (17.1%) and monosomy X (9.8%). An unbalanced structural rearrangement was found in one (2.4%) abortion. Most frequently involved in trisomies were chromosomes 16 (32.1%), 7 and 22 (10.7% each), 4, 13, 15, and 21 (7.2 % each). Three triploid cases and one complete mole were detected by microsatellite analysis as supplementary method. CGH data on culture failures were compared with data derived from 4693 successfully karyotyped first trimester spontaneous abortions, resulting in a chromosome aberration rate of 64.8%. The distribution of the different chromosome anomalies was similar with the exception of a higher rate of trisomies 7 and of XYY-triploidies in the culture failures. Based on our data we suggest that the genetic contribution to pregnancy loss is still underestimated. Investigating abortion tissues hitherto unassessed by conventional methods, we suggest that the contribution of chromosome aberrations to first trimester pregnancy loss is nearly 70%.
Assuntos
Aborto Espontâneo/genética , Aberrações Cromossômicas , Células Cultivadas , Análise Citogenética , Feminino , Idade Gestacional , Humanos , Cariotipagem , Idade Materna , Hibridização de Ácido Nucleico , Placenta/metabolismo , Gravidez , Primeiro Trimestre da GravidezRESUMO
BACKGROUND: Hirschsprung disease (HSCR) is a frequent congenital disorder with an incidence of 1 in 5000 live births, characterised by the absence of parasympathetic intramural ganglion cells in the hindgut resulting in intestinal obstruction in neonates and severe constipation in infants and adults. Intestinal neuronal dysplasia (IND) shares clinical features with HSCR but the submucosal parasympathetic plexus is affected. IND has been proposed as one of the most frequent causes of chronic constipation and is often associated with HSCR. METHODS: We examined 29 patients diagnosed with sporadic HSCR, 20 patients with IND, and 12 patients with mixed HSCR/IND for mutations in the coding regions of the RET, GDNF, EDNRB, and EDN3 genes. The entire coding regions were analysed by single strand conformational polymorphism and DNA sequencing. RESULTS: Only three RET mutations were detected in patients with HSCR. In patients with IND or a mixed HSCR/IND phenotype, no mutations in these genes were observed. While HSCR and HSCR/IND showed over representation of a specific RET polymorphism in exon 2, IND exhibited a significantly lower frequency comparable with that of controls. CONCLUSIONS: The mutation frequency found in our sporadic HSCR patients (10%) and the allelic distribution of RET polymorphisms are comparable with earlier published data. A significantly different allelic distribution in an established HSCR associated polymorphism argues against common genetic pathways for HSCR and IND.
Assuntos
Proteínas de Drosophila , Doença de Hirschsprung/genética , Mutação/genética , Fatores de Crescimento Neural , Alelos , Estudos de Casos e Controles , Fator Neurotrófico Derivado de Linhagem de Célula Glial , Receptores de Fator Neurotrófico Derivado de Linhagem de Célula Glial , Humanos , Proteínas do Tecido Nervoso/genética , Linhagem , Polimorfismo Conformacional de Fita Simples , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas c-ret , Receptores Proteína Tirosina Quinases/genética , Receptores de Endotelina/genética , Análise de Sequência de DNARESUMO
A case is reported with aganglionosis of the rectum, sigma, and descending colon; dysganglionosis with heterotopic ganglionic cells in the muscularis propria of the hypoganglionic transverse colon; and extreme hypoganglionosis (without detection of ganglionic cells) of the ascending colon and distal ileum. The ileum showed a transition zone with hypoganglionosis and intestinal neuronal dysplasia (IND) type B. As to the etiology of such complex intestinal innervation defects, pre- and perinatal perfusion deficits must be considered because their localization seems to be linked to the vascular anatomy of the colon. Early diagnosis may be difficult, causing a delay in operative treatment and multiple operations. Different manifestations of dysganglionosis may be found in the same patient. The classical continuum of distal aganglionosis followed by proximal hypo- or dysganglionosis and then normally innervated bowel may not always be present. Therefore, in children with recurrent (sub-)ileus after resection of an aganglionic bowel segment, additional dysganglionosis such as IND or hypoganglionosis or even complex intestinal dysganglionosis should be excluded by full-thickness colon and small bowel biopsies.
Assuntos
Doença de Hirschsprung/patologia , Humanos , Recém-Nascido , MasculinoRESUMO
Wolf-Hirschhorn Syndrome (WHS) is caused by distal deletion of the short arm of chromosome 4 and is characterized by growth deficiency, mental retardation, a distinctive, 'greek-helmet' facial appearance, microcephaly, ear lobe anomalies, and sacral dimples. We report a family with a balanced chromosomal translocation 4;18(p15.32;p11.21) in the father and an unbalanced translocation resulting in partial monosomy 4 and partial trisomy 18 in one living boy and a prenatally diagnosed male fetus. Both showed abnormalities consistent with WHS and had in addition aplasia of one umbilical artery. Karyotyping of another stillborn fetus revealed a supernumerary derivative chromosome der(18)t(4;18)(p15.32;p11.21) of paternal origin and two normal chromosomes 4. The umbilical cord had three normal vessels. A third stillborn fetus with the same balanced translocation as the father had a single umbilical artery and hygroma colli.
Assuntos
Cromossomos Humanos Par 18 , Cromossomos Humanos Par 4 , Diagnóstico Pré-Natal , Translocação Genética , Anormalidades Múltiplas/genética , Feminino , Transtornos do Crescimento/genética , Humanos , Recém-Nascido , Deficiência Intelectual/genética , Cariotipagem , Masculino , Monossomia , Linhagem , Gravidez , Síndrome , TrissomiaRESUMO
Renal tubular dysgenesis (RTD) is a disorder characterized by neonatal renal failure and regular gross renal architecture, although the histological features of immature and shortened proximal tubules lead to neonatal death. The pathogenesis of this condition includes a congenital familial condition, a twin-twin transfusion syndrome, and an angiotensin-converting enzyme inhibitor intake by the mother. The clinical picture shows an association with oligohydramnia, pulmonary hypoplasia, and skull ossification defects. In the present paper, we report the occurrence of RTD in three infants of a consanguinous couple and compared our data with those of the literature. Our data confirm that late second trimester demonstration of oligohydramnion, with structurally normal kidneys and with or without skull ossification defects, allows the diagnosis of renal tubular dysgenesis, which, however, has to be confirmed by histological and immunohistological examinations of the kidney.
Assuntos
Túbulos Renais Proximais/anormalidades , Oligo-Hidrâmnio/patologia , Adulto , Consanguinidade , Evolução Fatal , Feminino , Humanos , Imuno-Histoquímica , Cariotipagem , Masculino , Oligo-Hidrâmnio/etiologia , Gravidez , Segundo Trimestre da Gravidez , Radiografia , Crânio/diagnóstico por imagem , SíndromeAssuntos
Ductos Biliares Intra-Hepáticos/anormalidades , Hemorragia Cerebral/etiologia , Deficiência de Vitamina K/complicações , Deficiência de Vitamina K/tratamento farmacológico , Vitamina K/uso terapêutico , Adulto , Ductos Biliares Intra-Hepáticos/patologia , Evolução Fatal , Feminino , Humanos , Lactente , MasculinoRESUMO
BACKGROUND: Intestinal neuronal dysplasia (IND) of the colonic submucous plexus is considered to be a congenital malformation of the enteric nervous system causing symptoms resembling those of Hirschsprung's disease. In contrast with the established diagnosis of aganglionosis using enzyme histochemistry, controversy exists over the diagnostic criteria of IND on rectal biopsies previously defined by a consensus report and the causal relation between morphological findings and clinical symptoms. AIMS: The interobserver variability was prospectively investigated with respect to final diagnoses and several histological features in rectal biopsy specimens from children suspected of having colonic motility disturbances. METHODS: 377 biopsy specimens from 108 children aged 4 days to 15 years were independently coded without knowledge of clinical symptoms by three experienced pathologists for 20 histological features, and a final diagnosis was given for every case. Interobserver variation for the different items and the final diagnosis were analysed using Cohen's kappa statistic. Clinical data at biopsy and outcome after 12 months were related to morphological findings. RESULTS: The three pathologists agreed completely with respect to the diagnosis Hirschsprung's disease (kappa = 1), but in only 14% of the children without aganglionosis. In 15 (17%) of the 87 children without aganglionosis, at least one pathologist judged the case as normal, while another diagnosed IND. kappa values were close to the zero value expected by chance for the diagnoses normal and IND. Young age was related to the presence of several morphological features-for example, acetylcholine esterase staining and presence of giant ganglia. Children with chronic constipation diagnosed as having IND, given no other specific diagnosis by any of the pathologists, were significantly younger (median 8.8 months) and had a higher cure rate after one year (60%) than constipated patients considered by all observers to have no histological abnormalities (median 6.1 years, cure rate 23%). CONCLUSIONS: In contrast with Hirschsprung's disease, there is a high interobserver variation with regard to the different morphological features and final diagnosis of IND, based on the criteria and conditions of the previous consensus report. The high frequency of histological "abnormalities" in young infants suggests that some of the features may represent a normal variant of postnatal development rather than a pathological process. Investigations using more refined and morphometric methods in rectal specimens from infants and children without bowel disease are needed to define the normal range of morphological appearance at different ages. These preliminary data indicate that, with current knowledge, rectal biopsy for diagnostic purposes should only be performed in constipated children for diagnosis of Hirschsprung's disease.
Assuntos
Colo/anormalidades , Colo/inervação , Sistema Nervoso Entérico/anormalidades , Doença de Hirschsprung/patologia , Reto/patologia , Adolescente , Criança , Pré-Escolar , Constipação Intestinal/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Variações Dependentes do Observador , Prognóstico , Estudos ProspectivosRESUMO
AIM: The established criteria for benignity or malignancy of lymph nodes when evaluated with B-mode ultrasound can be divided into quantitative measures (size, quantity, contour and density) and qualitative parameters (configuration and structure). The validity of these criteria is controversial. METHODS: Two cases of sinus histiocytosis with massive lymphadenopathy (SHML) are presented; this is a rare benign reactive disorder in which massive enlargement of cervical lymph nodes often occurs. These enlarged nodes offer a chance to demonstrate and discuss the validity of the sonomorphological criteria. RESULTS: The enlarged lymph nodes in SHML fulfill most of the criteria for malignancy. The same results are meet in other disorders with prominent but benign lymphadenopathy. CONCLUSION: The current ultrasonic criteria to determine benignity/malignancy in lymph nodes most likely simply indicate a large number of enlarged nodes. Pathologic diagnosis remains the gold standard.
Assuntos
Histiocitose Sinusal/diagnóstico por imagem , Linfonodos/diagnóstico por imagem , Criança , Diagnóstico Diferencial , Histiocitose Sinusal/patologia , Histiocitose Sinusal/cirurgia , Humanos , Excisão de Linfonodo , Linfonodos/patologia , Masculino , Sensibilidade e Especificidade , UltrassonografiaRESUMO
Neural tube defects (NTDs) were recognized in eight out of 91 intact embryos from spontaneous abortions and in one case of an induced abortion following prenatal diagnosis of a chromosomal disorder. Five of the nine cases showed chromosomal abnormalities. Trisomy 18 and triploidy were associated with spina bifida in three cases, trisomy 7 with parieto-occipital encephalocele and monosomy X with spina bifida and iniencephaly in one case. A sixth anencephalic embryo in which chromosomal analysis was not performed showed a malformation pattern highly suggestive for trisomy 18. Discussion focuses on the high rate and the type of chromosomal abnormalities among spontaneously aborted NTD embryos, on the contrasting phenotype of 45,X conceptions and on the morphogenesis of the different neural tube defects in early development. In view of future early endovaginal ultrasound diagnosis, the changing morphological pattern is exemplified, and ranges from apparently hyperplastic to degenerative alterations of the exposed neural tissue.