RESUMO
We describe two occurrences of nontrophoblastic mesenchymal tumors of the placenta. The first placental tumor was found along the placental margin, and the second was identified close to the insertion of the fetal membranes along the placental disc. Microscopically both lesions demonstrated bland fibroblastic cells with intricate vasculature and inflammatory cells. Both lesions were negative for estrogen receptor (ER), progesterone receptor (PR), beta-HCG, PLAP, CD34, desmin, h-caldesmin, and smooth muscle actin by immunohistochemistry. Some cells were weakly positive for CD10, a nonspecific finding. The morphologic and immunohistochemical characteristics of these lesions were most consistent with nodular fasciitis, a tumor most commonly found in the soft tissues. FISH positive for USP6 gene rearrangement in our two patients confirmed the molecular similarity of these lesions to nodular fasciitis of soft tissue. Such lesions can be easily dismissed on gross placental examination as infarcts or thrombi, thus these rare entities are likely underreported.
Assuntos
Doenças Placentárias/patologia , Complicações Neoplásicas na Gravidez/patologia , Biomarcadores Tumorais/análise , Feminino , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , GravidezRESUMO
Noted for centuries in humans, a relatively hairless mammal [e.g., Hallero, 1766; Hohl, 1828 in Klunker, 2003], the so-called amniotic deformities, adhesions, mutilations (ADAM) sequence remains causally and pathogenetically incognito. In 1930 Streeter stated " apodictically" that no evidence has been found that intra-uterine amputation is due to amniotic bands or adhesions " and that his 16 cases provided (histological) evidence for a "germinal origin." He concluded that an amniotic cord was "not an adhesion or inflammatory product but an anomalous developmental structure and present from the outset." In survivors the "traces" of damaged limb-buds "reveal the scars of poor germ-plasm." In 1958, Willis, in dismissing the amniotic origin of the ADAM defects (or "Streeter" or "Simonart" bands) quoted Keith [1940] to the effect that "(a)mniotic adhesions are always produced by the fetus as a result of dysplasia in foetal tissues. They are the result, not the cause, of foetal malformations." Streeter [1930] mentions a potential familial case (56-year-old man and his mother), not controlled by photographs or other records and concluded "that the (ADAM) deformity is not easily transmissible," but "due to the constitution of the germ-plasm." Torpin [1968] concluded, as apodictically as Streeter and Willis, that " proof of amnion rupture without damage to the chorionic sac is no longer "in question." Considering Torpin's decades-long study of the ADAM phenomenon and review of 494 references (missing many) it is surprising that he does not discuss the relationship between the apparent ADAM defects and other, internal anomalies that maybe present in an affected fetus or infant not evidently caused by the amniotic disruptions, adhesions or mutilations, unless his mind was made up. Our review of these internal and other presumed primary malformations in ADAM is ongoing. However, on a preliminary basis, it seems likely to us that: (1) there is an increased prevalence of such primary anomalies in the ADAM condition confirming the view and experience of others, for example Czeizel et al. [1993]; (2) these malformations (e.g., heterotaxy) may arise as early as gastrulation; (3) that, given the ADAM phenomenon is exclusively ascertained as the ADAM phenotype in fetuses and infants, that is, that its cause and ascertainment are completely congruent, then the apparent amniotic defect must also be regarded as a malformation; (4) that in such a case the ADAM phenomenon with associated primary malformation(s) is a form of syndromal pleiotropy due to one cause yet to be elucidated. To that end we recommend archiving DNA from all affected fetuses coming to autopsy and their parents and placentas and surgical tissues of all viable affected infants for ultimate exome or genome sequencing perhaps with special attention to the syncytin genes.
Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/etiologia , Feto/anormalidades , Fenótipo , Feminino , Humanos , Masculino , Placenta/anormalidades , Gravidez , Natimorto , SíndromeRESUMO
We report on a case of a prenatally diagnosed non-immune hydrops fetalis and cystic hygroma associated with the balanced translocation t(5;9)(q11.2;p22), an association that to our knowledge has not been reported previously. Both parents had normal karyotypes. The infant was born prematurely at 33 and 3/7 weeks gestation and expired 12 h after delivery.
Assuntos
Cromossomos Humanos Par 5/genética , Cromossomos Humanos Par 9/genética , Hidropisia Fetal/genética , Linfangioma Cístico/genética , Complicações na Gravidez/genética , Adulto , Feminino , Humanos , Hidropisia Fetal/patologia , Recém-Nascido , Linfangioma Cístico/patologia , Gravidez , Complicações na Gravidez/patologia , Diagnóstico Pré-Natal , Translocação GenéticaRESUMO
A case of a premature infant with lactic acidosis and hepatic iron accumulation, born to a mother with multiple fetal demises, is presented and discussed by both clinician and pathologist, in this traditional clinico-pathologic conference. The discussion includes the differential diagnoses of lactic acidosis and hepatic iron accumulation in infants.
Assuntos
Acidose Láctica/fisiopatologia , Morte Fetal , Feto/fisiopatologia , Ferro/metabolismo , Fígado/patologia , Acidose Láctica/patologia , Adulto , Evolução Fatal , Feminino , Feto/patologia , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Gravidez , SíndromeRESUMO
We report a case of spondyloepiphyseal dysplasia congenita (SED congenita), diagnosed at autopsy of a term infant. Prenatal ultrasound at 20 weeks of gestation had shown shortening of all the fetal long bones, with bowing of the femora and humeri, clubfeet, and small thoracic cage. We discuss the diagnostic features of SED and the main differential diagnoses.
Assuntos
Osteocondrodisplasias/congênito , Osteocondrodisplasias/patologia , Adulto , Diagnóstico Diferencial , Feminino , Humanos , GravidezRESUMO
Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by severe intra-uterine growth restriction, extreme microcephaly, marked edema with skin restriction, ichthyosis, craniofacial anomalies, limb deformities, and a spectrum of central nervous system malformations. Less than 70 cases have been described since the first report in 1971. To this day the etiology and genetic basis remains unknown. Consanguinity has been reported. Some authors have postulated the syndrome to be a form of neuro-ectodermal dysplasia, while others suggest that it is a malformation syndrome secondary to severe skin restriction. Although the outcome of this syndrome is lethal, a single case of longer survival (6 months) has been reported. The majority of cases are stillborn or die shortly after birth. Thus, it is clear that Neu-Laxova exhibits a spectrum of disease, with varying degrees of phenotypic expression. We are presenting three new cases of Neu-Laxova syndrome; two were stillbirths and one lived for eleven weeks. Our microscopic and post-mortem findings in these three cases display the vast spectrum of this rare syndrome.
Assuntos
Sistema Nervoso Central/anormalidades , Anormalidades Craniofaciais/diagnóstico por imagem , Ictiose/diagnóstico por imagem , Microcefalia/diagnóstico por imagem , Natimorto/genética , Anormalidades Múltiplas/diagnóstico por imagem , Sistema Nervoso Central/diagnóstico por imagem , Consanguinidade , Displasia Ectodérmica/diagnóstico por imagem , Feminino , Humanos , Malformações do Sistema Nervoso/diagnóstico por imagem , Fenótipo , Gravidez , Doenças Raras/diagnóstico por imagem , Síndrome , UltrassonografiaRESUMO
Insulin-like growth factor 1 and its receptor (IGF-1/IGF-2) may play important roles in the development of human fetal tissue, and its ligands IGF-1 and IGF-2 have been found in fetuses older than 3 months. Our objective was to study the immunohistochemical distribution of IGF 1-R in tissues obtained from human normal embryos following abortion or natural termination of pregnancy. Immunohistochemical staining was performed on autostainer, using an anti-IGF1-R rabbit polyclonal antibody (dilution 1:75), and the avidin-biotin peroxidase complex method. The embryos ranged between 28 days to 8 weeks gestation. Fully 3 cases were 28 days old, 1 case 32 days old, 2 cases 6 weeks old and 2 cases 8 weeks old. The IGF1-R stain decorated the surface ectoderm, the optic cup, and the lens placode, pharynx, respiratory diverticulum, foregut, liver cords, mesonephros, and metanephric blastema. Mesodermal structures, including limb mesoderm, and neural crest derivatives were IGF-1R negative. On study shows the preferential IGF-1R immunolocalizatrion in specific areas of the developing embryo, suggesting a role of IGF1-R for the optimal maturation of those areas, during developing human embryos.
Assuntos
Embrião de Mamíferos , Desenvolvimento Embrionário , Feto , Receptor IGF Tipo 1/análise , Animais , Autopsia , Embrião de Mamíferos/anatomia & histologia , Embrião de Mamíferos/química , Feminino , Feto/anatomia & histologia , Feto/química , Idade Gestacional , Humanos , Fator de Crescimento Insulin-Like I , Fator de Crescimento Insulin-Like II , GravidezRESUMO
Perineal hernias are very rare and mostly reported in adults, with only 7 cases reported in children. We report a female fetus, terminated at 18 weeks of gestation due to trisomy 18. In addition to multiple typical findings of trisomy 18, this fetus had perineal hernia with defect of the perineal skin and prolapse of multiple bowel loops. To our knowledge there are no reported cases of perineal hernia presenting antenatally nor are there reported cases of perineal hernia associated with trisomy 18.
Assuntos
Cromossomos Humanos Par 18 , Feto/anormalidades , Hérnia/congênito , Períneo/anormalidades , Trissomia , Anormalidades Múltiplas , Adulto , Evolução Fatal , Feminino , Humanos , Gravidez , Ultrassonografia Pré-NatalRESUMO
The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex was first described by Carey et al. in 1978. It constitutes a specific combination of malformations. There are very few case reports of discordant OEIS in monozygotic twins and very few reports of OEIS in association with both hypoplastic left heart and ventricular septal defect. Our case represents the fifth reported case of cardiac malformations in a fetus with OEIS complex.
Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Síndrome do Coração Esquerdo Hipoplásico/diagnóstico por imagem , Gêmeos Monozigóticos , Anus Imperfurado/diagnóstico , Cloaca/anormalidades , Evolução Fatal , Feminino , Hérnia Umbilical/diagnóstico , Humanos , Masculino , Gravidez , Segundo Trimestre da Gravidez , Diagnóstico Pré-Natal , Radiografia , Escoliose/diagnóstico , Escoliose/diagnóstico por imagem , Ultrassonografia Pré-NatalRESUMO
The Aicardi syndrome is characterized by infantile spasms, corpus callosum agenesis, and chorioretinal lacunae and almost exclusively affects females (very rarely, 47, XXY males). The crucial genetic mishap likely occurs in the postzygotic stage, but the variable clinical phenotype among the approximately 450 known cases has not been explained. No consistent mutations or deletions exist among patients. We encountered a baby girl with early onset infantile spasms. She had left-sided cleft lip/palate, costovertebral defects, scoliosis, callosal agenesis, and microphthalmia. She expired at the age of 3 months of respiratory infection. On autopsy she had thoracic hemivertebrae with rib defects, bilateral microphthalmia, microcornea, posterior colobomata, abnormalities of the retinal pigment epithelium, absence of normal ganglion cells in the retina, gross asymmetry of the brain with cerebral polymicrogyria, total callosal agenesis, cerebral subcortical and subependymal nodular heterotopias, cerebellar nodular heterotopias, and tegmental/basal unilateral brainstem hypoplasia. Cerebellar and retinal migration defects have not been described before in Aicardi syndrome and may have had a bearing on this patient's eventual outcome.
Assuntos
Encefalopatias/congênito , Encefalopatias/patologia , Cerebelo/anormalidades , Malformações do Desenvolvimento Cortical/patologia , Neurônios/patologia , Anormalidades Múltiplas/patologia , Encefalopatias/complicações , Movimento Celular , Feminino , Humanos , Recém-Nascido , Espasmos Infantis/congênito , SíndromeRESUMO
Teratoma is the leading neoplasm diagnosed in neonates and infants. Although over 99% of teratomas found in the fetus and newborn are histologically benign, those tumors may cause death if vital structures are involved or if the airway is compromised. We review the literature on antenatal intrapericardial teratomas and report a case of intrapericardial teratoma, with massive pericardial effusion and fetal hydrops, diagnosed on antenatal ultrasound at 21 weeks of gestation. Pericardioamniotic shunt was placed at 22 weeks and 6 days gestational age. In spite of successful drainage of the pericardial effusion, fetal demise was documented 8 days later, likely due to tumor compression of the heart.
Assuntos
Coração Fetal , Derrame Pericárdico/cirurgia , Diagnóstico Pré-Natal , Teratoma , Ultrassonografia Pré-Natal , Feminino , Morte Fetal , Coração Fetal/diagnóstico por imagem , Coração Fetal/cirurgia , Feto/cirurgia , Idade Gestacional , Humanos , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/diagnóstico por imagem , Hidropisia Fetal/cirurgia , Gravidez , Teratoma/diagnóstico , Teratoma/diagnóstico por imagem , Teratoma/cirurgiaRESUMO
A case of pleuropulmonary blastoma in a 13-year-old child, exposed to the Chernobyl disaster while in-utero, is presented and discussed by both clinician and pathologist, in this traditional clinical-pathologic conference. The discussion includes the differential diagnoses of chest mass in children.
Assuntos
Neoplasias Pulmonares/diagnóstico , Blastoma Pulmonar/diagnóstico , Neoplasias Torácicas/diagnóstico , Adolescente , Quimioterapia Adjuvante , Terapia Combinada , Diagnóstico Diferencial , Evolução Fatal , Humanos , Neoplasias Pulmonares/cirurgia , Neoplasias Pulmonares/terapia , Masculino , Pneumonectomia , Blastoma Pulmonar/cirurgia , Blastoma Pulmonar/terapia , Radioterapia Adjuvante , Neoplasias Torácicas/cirurgia , Neoplasias Torácicas/terapia , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVE: To determine the correlation of histological chorioamnionitis (CA) with and without clinical CA with umbilical cord blood gases, erythropoietin (EPO), and interleukin-6 (IL-6) levels. METHODS: Umbilical artery blood gas analysis (pH, pO(2), pCO(2), BE) and umbilical vein EPO and IL-6 levels were measured in 202 infants from normal, histological, and no clinical CA and histological plus clinical CA pregnancies. RESULTS: Umbilical artery blood gas analyses were not different between normal controls and histological and clinical CA groups. Blanc Stage 1 histological CA had no abnormal EPO or IL-6 umbilical blood results. EPO in umbilical venous blood was elevated only in those infants with both histological and clinical CA. Umbilical vein IL-6 levels were elevated in all advanced microscopic and clinical CA. High and low EPO groups also have corresponding high and low IL-6 levels suggesting a common stimulus for these substances. CONCLUSIONS: Blanc stage I histological CA is probably clinically insignificant. CA is infrequently associated with abnormal umbilical artery blood gas levels. Advanced histological and clinical CA can elevate both EPO and IL-6 in umbilical blood and these may be key elements of mechanisms that effect fetal brain function.
Assuntos
Dióxido de Carbono/sangue , Corioamnionite/sangue , Eritropoetina/sangue , Sangue Fetal/química , Inflamação , Interleucina-6/sangue , Oxigênio/sangue , Gasometria , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Humanos , Concentração de Íons de Hidrogênio , Gravidez , Estatísticas não ParamétricasRESUMO
Heteromorphisms of chromosome 9 are among the most common variations in the human karyotype. The pericentromeric polymorphisms of chromosome 9 include variations in the size of q-arm heterochromatin, pericentric inversions, and rarely, additional C-band-negative, G-band-positive material. The finding of a polymorphic variant, either in prenatal screening or in chromosomal analysis for phenotypic abnormalities, may cause parental anxiety and initiate genetic counselling. We report a case of a 39-year-old primigravida with unremarkable pregnancy, who had amniocentesis due to advanced maternal age. Chromosomal analysis demonstrated a long arm (q) variant of chromosome 9 with an enlarged heteromorphic area, approximately three times longer than known reported variants. Prenatal analysis demonstated an identical variant in the probands phenotypically normal father, uncle, and paternal grandmother, confirming an apparently "normal" variant.
Assuntos
Cromossomos Humanos Par 9/genética , Variação Genética , Heterocromatina/genética , Amniocentese , Criança , Bandeamento Cromossômico , Família , Feminino , Seguimentos , Crescimento e Desenvolvimento/fisiologia , Humanos , Cariotipagem , Masculino , Linhagem , Polimorfismo Genético , Gravidez , Resultado da Gravidez , Diagnóstico Pré-Natal , Fatores de Tempo , Ultrassonografia Pré-NatalRESUMO
Pathologists have long recognized thatpediatric autopsy requires great care in technique and dissectionto ensure that easily overlooked malformations are recognized andaccurate diagnoses are made. The highly experienced authors havecreated a new edition of Handbook of Pediatric Autopsy Pathology, acomprehensive reference guide to the actual performance of thepediatric autopsy and the optimal recognition and interpretation ofpathologic findings. The Handbook of Pediatric Autopsy Pathology,Second Edition covers the spectrum of pediatric pathology withparticular reference to those conditions that can be identified atautopsy. New and updated material includes microbiological studies,particularly with the advent of newly described micro-organismscausing disease. The volume also addresses new developments inmetabolic diseases, new techniques of ultrasound imaging, andspecialized laboratory testing.ÿ Furthermore, the bookprovides a wealth of practical information and bibliographiccitations throughout, new copious illustrations and line drawings,numerous standard reference tables, and appendices at the end ofmultiple chapters. Authored by authorities in the field, Handbookof Pediatric Autopsy Pathology, Second Edition is a valuableresource that will assist general and pediatric pathologists,neonatologists, interns and residents in training, as well asspecialists in cytogenetics and ultrasound technicians inunderstanding the manner and cause of death in its broadest andcomprehensive sense.
RESUMO
An inflammatory myofibroblastic tumor as a distinct clinicopathologic entity in the lung has gained wide acceptance. The majority of these tumors are either contained within a single segment or pulmonary lobe and may cross the interlobar fissure and/or extend into the mediastinum, especially if arising in a perihilar location. We describe the case of a 13-year-old male with a 4-year history of an unresponsive lung mass in the left hemithorax. The resected tumor showed the typical morphology of a fasciculated fibroblastic/myofibroblastic lesion.
Assuntos
Neoplasias Pulmonares/patologia , Neoplasias de Tecido Muscular/patologia , Adolescente , Humanos , Neoplasias Pulmonares/cirurgia , Masculino , Neoplasias de Tecido Muscular/cirurgia , Resultado do TratamentoRESUMO
Alveolar soft part sarcoma (ASPS) is a rare soft tissue tumor occurring mainly in the adolescents and young adults. Multimodality treatment has not been effective, and excision remains the mainstay of treatment. Histopathologically, it varies little from case to case. It is composed of organoid aggregates of large polygonal cells with vesicular nuclei and abundant granular, eosinophilic cytoplasm, separated by delicate vascular channels. The line of differentiation of this unique tumor is yet undetermined, although recent advances have led to a better understanding of the genetic events underlying the pathogenesis of this tumor. The histopathological, ultrastructural, immunohistochemical, and genetic aspects of ASPS are discussed.
Assuntos
Sarcoma Alveolar de Partes Moles/patologia , Neoplasias de Tecidos Moles/patologia , Biomarcadores Tumorais/análise , Criança , Citoplasma/ultraestrutura , DNA de Neoplasias/análise , Feminino , Humanos , Proteínas S100/análise , Sarcoma Alveolar de Partes Moles/química , Sarcoma Alveolar de Partes Moles/cirurgia , Ombro , Neoplasias de Tecidos Moles/química , Neoplasias de Tecidos Moles/cirurgia , Sinaptofisina/análiseRESUMO
Restrictive dermopathy is a rare autosomal recessive disorder characterized by extreme tautness of the skin causing restricted intrauterine movement and a fetal akinesia deformation sequence. It is uniformly mostly neonatally fatal. The diagnostic findings are skin tautness with near absence of the dermal elastic fibers, usually with no or only minor anomalies of the internal organs. The exact pathogenetic mechanisms are still not known. Fewer than 50 cases have been reported. We report on a case of restrictive dermopathy and discuss the differential diagnoses.
Assuntos
Doenças Fetais/patologia , Dermatopatias/patologia , Pele/patologia , Anormalidades Múltiplas , Aborto Eugênico , Tecido Elástico/anormalidades , Feminino , Genes Recessivos , Idade Gestacional , Humanos , Recém-Nascido , GravidezRESUMO
The patient was a 5-week-old male admitted with tachypnea and increased respiratory: distress. Mother noted increased cough and increased work of breathing. There was no fever, congestion, or nasal discharge. Prior to presenting to the emergency room, he was given a bronchodilator nebulizer treatment at home with no improvement. Two weeks prior to the current admission, he was hospitalized in the pediatric intensive care unit for approximately two weeks for similar complaints. Physical examination on the current admission was significant for minimal nasal flaring and mild subcostal retractions, with intermittent oxygen requirement. Infectious workup was negative.
Assuntos
Doença de Depósito de Glicogênio/diagnóstico , Doenças Pulmonares Intersticiais/diagnóstico , Transtornos Respiratórios/fisiopatologia , Corticosteroides/uso terapêutico , Biópsia , Pré-Escolar , Tosse/fisiopatologia , Seguimentos , Doença de Depósito de Glicogênio/patologia , Doença de Depósito de Glicogênio/terapia , Humanos , Doenças Pulmonares Intersticiais/patologia , Doenças Pulmonares Intersticiais/terapia , Masculino , Radiografia , Respiração , Transtornos Respiratórios/diagnóstico por imagem , Transtornos Respiratórios/cirurgia , Fatores de Tempo , Resultado do TratamentoRESUMO
A case of bilateral gonadoblastoma in 46,XY gonadal dysgenesis is presented and discussed by both clinician and pathologist, in this traditional clinico-pathologic conference. The discussion includes the differential diagnoses of primary amenorrhoea.