RESUMO
BACKGROUND: Cleft lip and palate (CLP) represents a group of malformations of unknown etiology but similar phenotypes. This implies consequences for the diagnostics, therapy, prevention, prognosis and risk estimation. OBJECTIVE: Definition of CLP subtypes and the embryonic development, clarification of correlations and differences between entities using epidemiological data, overview of the present state of genetic analyses, correlation to syndromes, sequences and associations and resulting consequences for clinical practice. MATERIAL AND METHODS: Update on embryological development of the face, summary of epidemiological and genetic studies and considerations on pedopathological and forensic aspects. RESULTS: Syndromic and non-syndromic CLP exhibit different and highly variable etiologies, therapeutic needs and prognosis. A thorough understanding is mandatory to distinguish between the different subgroups. In addition to specific aspects of CLP for the pediatric (forensic) pathologist this article provides an overall view of the topic which aims to help understand these malformations.
Assuntos
Fenda Labial/patologia , Fissura Palatina/patologia , Fenda Labial/embriologia , Fenda Labial/epidemiologia , Fenda Labial/genética , Fissura Palatina/embriologia , Fissura Palatina/epidemiologia , Fissura Palatina/genética , Estudos Transversais , Feminino , Medicina Legal , Gengiva/embriologia , Gengiva/patologia , Humanos , Recém-Nascido , Lábio/embriologia , Lábio/patologia , Palato/embriologia , Palato/patologia , Síndrome de Pierre Robin/embriologia , Síndrome de Pierre Robin/epidemiologia , Síndrome de Pierre Robin/genética , Síndrome de Pierre Robin/patologia , Gravidez , Prognóstico , Fatores de Risco , Estatística como AssuntoRESUMO
INTRODUCTION: Chronic obstructive pulmonary disease (COPD) is currently a complex, multicomponent disorder. The COPD Assessment Test (CAT) has been increasingly used to assess COPD patients. This study aims to investigate the relationship between CAT and inflammation markers and other COPD components. METHODS: We enrolled 110 stable COPD patients and 65 control subjects in this study. All patients completed the CAT questionnaire and the modified Medical Research Council (mMRC) dispnea scale. The quality of life of these patients was measured with St. George's Respiratory Questionnaire (SGRQ). Levels of TNFα, IL-6, CRP were determined in blood samples. RESULTS: In COPD patients, serum levels of TNFα (109.5 ± 58 pg/ml), IL-6 (10.3 ± 18 pg/ml), and C-reactive protein (CRP) (1.6 ± 1.7 mg/L) were found to be significantly higher compared to controls (TNF-α: 14.6 ± 18 pg/ml, IL-6: 2.14 ± 1.9 pg/ml, CRP: 0.4 ± 0.3mg/L, p<0.001). These markers were correlated with smoking (r from 0.27 to 0.35, p<0.001), FEV1 (r from -0.39 to -0.57, p<0.001), FVC (r from -0.32 to -0.37, p<0.001) and FEV1/FVC (r from -0.31 to -0.66, p<0.001). The CAT score correlated with GOLD spirometric stages, mMRC dyspnea score, number of exacerbations in the previous year and FEV1 (p<0.001). There was a significant correlation between levels of CRP and the CAT score (r=0.43, p<0.001) but no similar relationship between levels of TNFα and IL-6 and the CAT was observed. CONCLUSION: Systemic inflammation persists in the stable period of COPD. CRP, one of the inflammation markers, was correlated with the CAT. Further studies are required to confirm the relationship between CAT and biomarkers.
Assuntos
Proteína C-Reativa/análise , Interleucina-6/sangue , Doença Pulmonar Obstrutiva Crônica/sangue , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Fator de Necrose Tumoral alfa/sangue , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , AutorrelatoRESUMO
Information obtained from the autopsies of children, neonates, fetuses and embryos, may not only be useful to explain the loss experienced by the parents but also to estimate the risk of recurrence. The detection of diseases by an autopsy helps to reduce the risk as well as with the planning of the next pregnancy and the optimal care of mother and fetus. Although incidences are continually dropping, according to the World Health Organization (WHO) statistics each year at least 2.6 million children worldwide suffer intrauterine death after the 28th week of pregnancy. Despite a general decrease in the number of autopsies, the parents agreed to a post-mortem examination in 500 out of 512 cases. The post-mortem examination and interpretation of results of children differ from those obtained from adults. As a supplement to previous publications, this article discusses these differences and may provide standardized instructions on performing autopsies and evaluation of autopsy findings.
Assuntos
Autopsia/métodos , Anormalidades Congênitas/patologia , Documentação/métodos , Morte Fetal/etiologia , Fatores Etários , Causas de Morte , Implantação Tardia do Embrião , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Fotografação , Placenta/patologia , GravidezRESUMO
PURPOSE: Undiagnosed vasa praevia carries an imminent risk of fetal death and increases with IVF. When diagnosed, the question arises as to whether the conventional prenatal management of routine steroid administration for fetal lung maturation and elective caesarean section in week 35 is generally justified in face of the risks involved. We present a retrospective study of a risk-adapted modification of the conventional management of vasa praevia. MATERIAL AND METHODS: We analysed 11 years of records involving 18 cases of antenatally diagnosed vasa praevia at our perinatal centre. Each case was managed by a risk-adapted modification of the conventional treatment where both, the steroid administration and the timing of delivery, were dependent on the patient history and clinical signs for preterm birth. RESULTS: There were no lethal fetal, neonatal, or maternal complications. The earliest caesarean section took place at 34 weeks 1 day, the latest at 37 weeks 1 day, and in more than half of the cases at ≥ 36 weeks. CONCLUSION: Steroid application is generally recommended for pregnancies before 34 weeks carrying a risk for preterm birth. Thus, retrospectively, none of our cases required steroid administration. This supports our protocol of not obligatorily administering steroids. Delaying the caesarean section up to two weeks beyond the conventionally recommended date of 35 weeks in 78% of our cases resulted in no complications. This justifies the suitability of determining the timing of delivery based on our individual patient assessment. In conclusion, the following recommendations for a risk-adapted management of vasa praevia can be made: 1. weekly evaluation of risk factors for preterm delivery; 2. steroid administration only at risk for preterm birth; 3. admission to hospital with full obstetric and neonatal care facilities between 32 and 34 weeks; 4. elective caesarean section between 35 and 37 weeks, risk-adapted.
Assuntos
Corticosteroides/administração & dosagem , Cesárea , Ultrassonografia Pré-Natal , Vasa Previa/diagnóstico por imagem , Vasa Previa/terapia , Diagnóstico Diferencial , Feminino , Morte Fetal , Idade Gestacional , Humanos , Recém-Nascido , Placenta/irrigação sanguínea , Placenta/diagnóstico por imagem , Placenta/patologia , Gravidez , Resultado da Gravidez , Estudos Retrospectivos , Ruptura Espontânea , Ultrassonografia Doppler em Cores , Vasa Previa/patologiaRESUMO
During embryological development the heart develops from a simple tube into a complex fully developed heart with four chambers. Hence all congenital heart defects develop before the ninth week of gestation. Currently a steadily increasing number of genetic mutations have been found to be responsible for congenital heart defects. Nevertheless, up to now it has been impossible to diagnose a heart defect just on the basis of molecular pathology. Despite the current excellent prenatal and postnatal ultrasound diagnostics, the post-mortem examination is still the gold standard for the diagnosis of complex heart malformations. However, this requires knowledge of the pathomorphology of the heart malformation in question. Therefore, characteristic and distinguishing features of septal defects including atrioventricular septal defects are presented, especially as the latter are part of complex heart defects, such as conotruncal heart malformations.
Assuntos
Comunicação Atrioventricular/patologia , Cardiopatias Congênitas/patologia , Defeitos dos Septos Cardíacos/patologia , Análise Mutacional de DNA , Diagnóstico Diferencial , Ecocardiografia , Comunicação Atrioventricular/genética , Feminino , Idade Gestacional , Átrios do Coração/patologia , Cardiopatias Congênitas/genética , Septos Cardíacos/patologia , Ventrículos do Coração/patologia , Humanos , Recém-Nascido , Gravidez , Artéria Pulmonar/patologia , Síndrome , Transposição dos Grandes Vasos/patologia , Tronco Arterial/patologia , Ultrassonografia Pré-NatalAssuntos
Síndrome da Deleção 22q11/diagnóstico , Cistos/diagnóstico , Doenças Nasais/diagnóstico , Diagnóstico Pré-Natal/métodos , Síndrome da Deleção 22q11/embriologia , Síndrome da Deleção 22q11/genética , Anormalidades Múltiplas , Adulto , Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Cistos/genética , Feminino , Humanos , Doenças Nasais/genética , SíndromeRESUMO
A case of Okihiro syndrome (OS) detected by 2- and confirmed by 3-dimensional ultrasound at 13+2 gestational weeks is reported. While the pregnant woman affected by the OS presented with limb anomalies, the fetus showed severe thoracoabdominal and skeletal anomalies. Termination of pregnancy was performed at 14+1 gestational weeks and confirmed the sonographically detected symptoms. The diagnosis was confirmed by autoptic, radiologic and molecular genetic analysis. To our knowledge, this is the first case of prenatal diagnosis of OS.
Assuntos
Síndrome da Retração Ocular/diagnóstico por imagem , Doenças Fetais/diagnóstico por imagem , Deformidades Congênitas da Mão/diagnóstico por imagem , Primeiro Trimestre da Gravidez , Situs Inversus/diagnóstico por imagem , Adulto , Feminino , Idade Gestacional , Deformidades Congênitas da Mão/patologia , Humanos , Imageamento Tridimensional , Gravidez , Situs Inversus/patologia , Ultrassonografia Pré-NatalRESUMO
Peritoneal adhesions are a well-known and frequently occurring postoperative complication. Many published studies have looked into the prophylaxis of adhesions following abdominal surgery, but only few clinically relevant agents have been reported. Most publications refer to adult patients and not to paediatric patient collectives. This experimental study in a rat model compares the effect of perfluorocarbons as adhesion prophylaxis with those of a well-known anti-adhesive agent Adept and with an untreated control group. We hypothesized that PFC might have a double effect: initially it could suppress the accumulation of monocytes and neutrophilic granulocytes, and subsequently it would work as a barrier to prevent contact between the visceral and parietal layers of the peritoneum. After a standardised operation, PFC was injected into the abdominal cavity of rats in the study group. Macroscopically, the PFC group did not fare significantly better, but nevertheless a clear tendency towards fewer adhesions after the application of PFC could be ascertained.
Assuntos
Fluorocarbonos/uso terapêutico , Glucanos/uso terapêutico , Glucose/uso terapêutico , Doenças Peritoneais/tratamento farmacológico , Doenças Peritoneais/prevenção & controle , Aderências Teciduais/tratamento farmacológico , Animais , Modelos Animais de Doenças , Icodextrina , Complicações Pós-Operatórias , Ratos , Ratos Wistar , Aderências Teciduais/prevenção & controle , Resultado do TratamentoRESUMO
In 1:50 000 to 1:100 000 births, conjoined twins occur, caused by incomplete division of the embryonic disc more than 13 days after fertilisation. We present a case of cephalothoracopagus janiceps, a very rare form of conjoined twins, which was diagnosed at 13 weeks of gestation. Three-dimensional and colour Doppler ultrasound enabled precise prenatal visualisation of the fusion of the foetal head and chest up to the umbilicus. We could demonstrate the presence of two foetal hearts connected by an arterio-arterial shunt as well as two pairs of upper and lower extremities. After the clear 3-D presentation of the anomaly, making the poor prognosis visible, the mother decided to have the pregnancy terminated. Autopsy confirmed the prenatal diagnosis.
Assuntos
Gêmeos Unidos/embriologia , Ultrassonografia Pré-Natal , Adulto , Feminino , Humanos , Gravidez , Tórax/diagnóstico por imagem , Tórax/embriologiaRESUMO
BACKGROUND: Vasoactive intestinal peptide (VIP) can be produced by mature neurogenic tumors. Pathologically elevated VIP plasma levels cause secretory diarrhea with excessive loss of water and electrolytes. Despite the clinical severity diagnosis of a VIP-secreting tumor is often delayed and subsequently its extirpation as the mainstay of therapy. PATIENTS: We report on two patients with ganglioneuroblastoma and secretory diarrhea. We contrast the case of a 13-month-old boy with advanced symptoms of secretory diarrhea, high VIP plasma levels, and late diagnosis to the case of a 14-month-old boy with mild secretory diarrhea and normal VIP plasma levels but positive proof of VIP in tumor tissue. Reviewing the literature we found 57 cases of pediatric VIP-secreting tumors. RESULTS: The clinical situation is characterized by the typical symptoms of secretory diarrhea with hypokalemia and metabolic acidosis. Histopathology predominantly reveals ganglioneuroblastoma or ganglioneuroma. The symptoms mostly stop after complete resection of the tumor whereas lack of resection is associated with elevated mortality rates. CONCLUSIONS: In case of prolonged therapy-resistant secretory diarrhea the existence of a VIP-secreting tumor should be considered. Diagnostic work-up should include the assessment of VIP plasma levels, catecholamines in urine, and appropriate imaging techniques in order to rule out or confirm the possibility of a VIP producing tumor.
Assuntos
Diarreia Infantil/etiologia , Ganglioneuroblastoma/diagnóstico , Neoplasias Pancreáticas/diagnóstico , Peptídeo Intestinal Vasoativo/sangue , Vipoma/diagnóstico , Diagnóstico Diferencial , Diarreia Infantil/diagnóstico , Seguimentos , Ganglioneuroblastoma/sangue , Ganglioneuroblastoma/metabolismo , Ganglioneuroblastoma/patologia , Ganglioneuroblastoma/fisiopatologia , Ganglioneuroblastoma/cirurgia , Humanos , Imuno-Histoquímica , Lactente , Masculino , Pâncreas/patologia , Neoplasias Pancreáticas/sangue , Neoplasias Pancreáticas/metabolismo , Neoplasias Pancreáticas/patologia , Neoplasias Pancreáticas/fisiopatologia , Neoplasias Pancreáticas/cirurgia , Fatores de Tempo , Resultado do Tratamento , Vipoma/sangue , Vipoma/metabolismo , Vipoma/patologia , Vipoma/fisiopatologia , Vipoma/cirurgiaRESUMO
We report on a case of a fetal epignathus combined with two fetus-like structures resembling acardius acranius. The anomaly was detected at 23 weeks of gestation and led to termination of pregnancy at 24 weeks. This is the first description of epignathus with parasitic fetuses detected prenatally. It shows that the boundary between fetal teratoma and multiple pregnancy in special cases may be difficult to define.
Assuntos
Anormalidades Teratoides Graves/diagnóstico por imagem , Osso Etmoide , Doenças Fetais/diagnóstico por imagem , Neoplasias Cranianas/diagnóstico por imagem , Teratoma/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Anormalidades Múltiplas , Anormalidades Teratoides Graves/patologia , Adulto , Consanguinidade , Feminino , Feto/anormalidades , Humanos , Recém-Nascido , Masculino , Gravidez , Gravidez Múltipla , Neoplasias Cranianas/congênito , Teratoma/congênito , Trigêmeos , Gêmeos Unidos , Ultrassonografia Doppler em Cores/métodosRESUMO
We report the case of a child presented by her parents to the ENT outpatient service for swelling of the right temporal bone. The child had a history of recurrent bilateral inflammation of the middle ear. Tympanometry revealed a reduced compliance. Due to conductive hearing loss it was impossible to measure otoacustic emissions. Otherwise a normal ENT status was found. Imaging (MRI/CT) demonstrated bitemporal soft-tissue changes with extensive osseous destruction, but no typical imaging signs of an inflammatory, dysplastic or expansive process. The tentative diagnosis of Langerhans' cell histiocytosis (LCH) made on the basis of the clinical and imaging findings was confirmed by biopsy. After exclusion of disseminated LCH, chemotherapy was initiated, and the child underwent follow-up imaging after 3 months. CT showed clear signs of bitemporal reossification. The case reported here illustrates the problems encountered in diagnosing LCH which may present with unspecific clinical symptoms despite advanced osseous destruction. ENT specialists should be familiar with this very heterogeneous entity and think of LCH especially in children presenting with therapy-refractory otitis media, otitis externa, or mastoiditis in order to ensure a timely diagnosis and to thus improve the chances of successful therapy. Imaging modalities (CT, MRI) have a role in the early diagnosis and follow-up of this disorder.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Remodelação Óssea/fisiologia , Histiocitose de Células de Langerhans/tratamento farmacológico , Otite Média/tratamento farmacológico , Osso Petroso , Prednisolona/administração & dosagem , Osso Temporal , Vimblastina/administração & dosagem , Pré-Escolar , Feminino , Seguimentos , Testes Auditivos , Histiocitose de Células de Langerhans/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Otite Média/diagnóstico , Tomografia Computadorizada por Raios XRESUMO
We report on an undefined tumor of the right ulnar side of the elbow in a 15-year-old boy. The clinical examination showed painful swelling in the area of the ulnar nerve at the right elbow as well as sensory and motor deficits of the right hand corresponding to distribution of the ulnar nerve. Ultrasound examination and magnetic resonance imaging showed a tumor along the nerve. Subsequent surgical therapy included tumor decompression by division of the fascia. The histological examination demonstrated a capillary hemangioma that infiltrated the ulnar nerve.After surgery, oral glucocorticoid therapy with cortisone (5 mg/kg per day) was administered over a period of 4 weeks, alternating between 1 week of therapy and 1 week without medication. The result of this combined therapy was a rapid diminution of the tumor and an almost complete restitution of the neural function.
Assuntos
Cotovelo/irrigação sanguínea , Hemangioma Capilar/diagnóstico , Neoplasias do Sistema Nervoso Periférico/diagnóstico , Neoplasias de Tecidos Moles/diagnóstico , Neuropatias Ulnares/diagnóstico , Adolescente , Cortisona/administração & dosagem , Descompressão Cirúrgica , Hemangioma Capilar/patologia , Hemangioma Capilar/cirurgia , Humanos , Imageamento por Ressonância Magnética , Masculino , Invasividade Neoplásica , Exame Neurológico , Neoplasias do Sistema Nervoso Periférico/patologia , Neoplasias do Sistema Nervoso Periférico/cirurgia , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/etiologia , Neoplasias de Tecidos Moles/patologia , Neoplasias de Tecidos Moles/cirurgia , Neuropatias Ulnares/patologia , Neuropatias Ulnares/cirurgia , UltrassonografiaRESUMO
We report on three pregnancies complicated by Adams-Oliver syndrome in a consanguineous Turkish couple. Two cases were correctly diagnosed prenatally at 22+3 and 13+0 weeks gestation following the first case of Adams-Oliver syndrome in which severe anomalies of the extremities were observed at 26+5 weeks' gestation. In this first case, the diagnosis of Adams-Oliver syndrome was made following termination of pregnancy at 27+2 weeks' gestation. In all three cases, autopsy was performed. All fetuses showed anomalies of the extremities, aplasia cutis and symmetric defects of the skull, with bone being replaced by collagenous tissue. Although there have been numerous cases of the postnatal diagnosis of Adams-Oliver syndrome following termination of pregnancy, this is the first description of the prenatal diagnosis of this disorder.
Assuntos
Transtornos Cromossômicos/diagnóstico por imagem , Deformidades Congênitas dos Membros/diagnóstico por imagem , Couro Cabeludo/anormalidades , Ultrassonografia Pré-Natal/métodos , Aborto Induzido , Autopsia , Transtornos Cromossômicos/genética , Consanguinidade , Feminino , Genes Recessivos , Humanos , Deformidades Congênitas dos Membros/genética , Gravidez , SíndromeRESUMO
BACKGROUND: Triploidy describes the presence of threefold haploid chromosome set and is a frequent cause of early abortion. Only few pregnancies reach the second trimester. CASE REPORT: Prenatal diagnosis of a fetus in the 28th week of gestation with a hypotriploidy and with characteristic ultrasonographic features is presented. An enlarged placenta with molar changes, an oligohydramnion, severe growth retardation and minor cardiac anomalies were observed by ultrasound. Before prenatal karyotyping could be performed, immediate cesarian section was necessary due to massive intraplacentar hemorrhage resulting in a decrease of the hemoglobin level. The diagnosis of triploidy was confirmed postnatally by cytogenetic analysis of lymphocytes, the child died after 3 days. DISCUSSION: Ultrasonographic and clinical features for the diagnosis of triploidy are presented. Etiology of the rare karyotype 68,XX is discussed.
Assuntos
Anormalidades Múltiplas/genética , Hemorragia/genética , Mola Hidatiforme/genética , Doenças Placentárias/genética , Ploidias , Anormalidades Múltiplas/patologia , Adulto , Feminino , Hemorragia/patologia , Humanos , Mola Hidatiforme/patologia , Cariotipagem , Placenta/patologia , Doenças Placentárias/patologia , Gravidez , Segundo Trimestre da GravidezRESUMO
AIMS: To investigate the clinical significance of the determination of IgA antibodies to tissue transglutaminase (tTG) for the detection of silent coeliac disease in patients with Type 1 diabetes mellitus. METHODS: A total of 520 patients with diabetes (median age 14.2 years, range 1-27) were tested for IgA antibodies to tTG (IgA anti-tTG, ELISA), endomysium (EmA, indirect immunofluoresence) and gliadin (IgA-AGA, enzyme immunometric assay) after ruling out IgA deficiency. RESULTS: The prevalence of IgA anti-tTG among patients with diabetes was 4.4% (23 of 520), and that of EmA and IgA-AGA 3.5% (18 of 520, respectively). The coefficient of agreement between IgA anti-tTG and EmA was high (Cohen's kappa = 0.87, P < 0.001). Thirteen of the 23 IgA anti-tTG-positive patients underwent duodenal biopsy. Coeliac disease was confirmed in nine of 13 patients. One of them was negative for EmA and AGA, but positive for IgA anti-tTG. Retrospective annual determinations up to 8 years in six IgA anti-tTG-positive patients showed both permanent and transient elevations of the serological markers. CONCLUSIONS: These data show that a positive IgA antibody test to tTG is a more sensitive parameter than EmA for silent coeliac disease in patients with diabetes. Confirmatory small bowel biopsy, however, remains necessary for diagnosis as some patients with positive antibodies may be without histological changes.
Assuntos
Autoanticorpos/sangue , Doença Celíaca/diagnóstico , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/imunologia , Proteínas de Ligação ao GTP/imunologia , Imunoglobulina A/sangue , Transglutaminases/imunologia , Adolescente , Adulto , Biomarcadores/sangue , Doença Celíaca/complicações , Doença Celíaca/imunologia , Criança , Pré-Escolar , Estudos de Coortes , Diabetes Mellitus Tipo 1/sangue , Duodeno , Feminino , Humanos , Lactente , Mucosa Intestinal/imunologia , Masculino , Proteína 2 Glutamina gama-Glutamiltransferase , Valores de ReferênciaRESUMO
Aqueductal stenosis is a common cause of hydrocephalus during infancy. We report on an infant born with aplasia cutis congenita at the scalp vertex and hypoplastic left heart syndrome developing systemic aspergillosis after cardiac surgery. The infant died at the age of 76 days despite systemic antimycotic therapy with a combination of flucytosine and amphotericin B. Therapy started at post-operative day 17 and was also applied intrathecally. Post-mortem examination revealed meningitis, multiple brain aspergillomas and microabscesses with focal ependymitis, focal bronchopneumonia, and necrotizing enterocolitis. One of the brain aspergillomas was located close to the aqueduct causing an aqueductal stenosis and an obstructive hydrocephalus. Histologically, aspergillus hyphae could only be detected in the aspergilloma of the aqueduct. To the best of our knowledge, this is the first reported case of an aqueductal stenosis caused by an aspergilloma.
Assuntos
Aqueduto do Mesencéfalo/patologia , Hidrocefalia/patologia , Meningite Fúngica/patologia , Neuroaspergilose/patologia , Tronco Encefálico/patologia , Constrição Patológica/patologia , Displasia Ectodérmica/patologia , Humanos , Síndrome do Coração Esquerdo Hipoplásico/patologia , Recém-Nascido , Masculino , Meninges/patologia , Infecções Oportunistas/patologiaRESUMO
The etiology and pathogenesis of complex focal lesions associated with chronic, intractable epilepsy are largely unknown. Some data indicate that malformative changes of the central nervous system may precede the development of gangliogliomas and other epilepsy-associated neoplasms. In the present immunhistochemical study, we have examined epilepsy-associated lesions for CD34, a stem cell marker transiently expressed during early neurulation. Surprisingly, most tissue samples from patients with chronic epilepsy (n = 262) revealed neural cells immunoreactive for CD34. Prominent immunoreactivity was detected in gangliogliomas (74%), low-grade astrocytomas (62%) and oligodendrogliomas (59%). Only 52% of non-neoplastic, malformative pathologies, such as glio-neuronal hamartias or hamartomas showed solitary or small clusters of CD34-immunoreactive cells. None of the adult control tissues (n = 22), none of the specimens obtained from the developing human brain (n = 44) and none of those tumor samples from patients without epilepsy (n = 63) contained CD34-immunoreactive neural cells. However, a malignant teratoma with microscopic features of early neural differentiation displayed a focal CD34-immunoreactive staining pattern. The majority of CD34-immunoreactive cells co-localized with S-100 protein and a small subpopulation was also immunoreactive for neuronal antigens. CD34 may, thus, represent a valuable marker for the diagnostic evaluation of neoplastic and/or malformative pathological changes in epilepsy patients. The CD34 immunoreactivity of these lesions indicates an origin from dysplastic or atypically differentiated neural precursors. Further studies may elucidate the functional significance of CD34 expression during the pathogenesis of epilepsy-related focal lesions as well as during neurogenesis.
Assuntos
Antígenos CD34/imunologia , Epilepsias Parciais/imunologia , Epilepsias Parciais/patologia , Epitopos/imunologia , Adolescente , Adulto , Doença Crônica , Humanos , Immunoblotting , Imuno-Histoquímica , Pessoa de Meia-IdadeRESUMO
We describe a family with two marriages of first cousins and a total of five children with opsismodysplasia. The diagnosis was based on clinical, radiological, and immunhistochemical findings. Helpful to the diagnosis was the testing with type I collagen antibodies, showing abnormally high levels in the hypertrophic area of growth cartilage. This observation supports the hypothesis of autosomal recessive transmission of opsismodysplasia.