RESUMEN
Infantile hemangioma (IH) is the most common benign vascular tumor of infancy, occurring predominantly in the head and neck. It is characterized by specific endothelial expression of glucose transporter-1 (GLUT-1) and involution with time, spontaneous or on beta-blockers treatment. Although some predisposing factors are known, the exact pathogenesis remains unclear. We report a case of pulmonary IH GLUT-1 positive, initially suspected as a cystic pulmonary airway malformation, in a child presenting with both cardiac and renal malformations. The clinical, radiological, pathological, and genetics findings are discussed with a review of the literature. Although pulmonary IH is a rare lesion, it should be suspected when facing a pulmonary cystic mass in a child.
Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Hemangioma Capilar/genética , Hemangioma Capilar/patología , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patología , Síndromes Neoplásicos Hereditarios/genética , Síndromes Neoplásicos Hereditarios/patología , Cromosomas Humanos Par 14/genética , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico , Diagnóstico Diferencial , Riñón Fusionado/genética , Defectos del Tabique Interventricular/genética , Hemangioma Capilar/diagnóstico , Humanos , Lactante , Neoplasias Pulmonares/diagnóstico , Masculino , Síndromes Neoplásicos Hereditarios/diagnóstico , Arteria Umbilical Única/genéticaRESUMEN
Pseudoamniotic band syndrome is a rare complication that occurs after invasive procedures for complicated monochorionic twins. We report 2 cases of intrauterine recipient fetal death after laser therapy for twin-twin transfusion syndrome due to umbilical cord constriction by the amniotic band.
Asunto(s)
Síndrome de Bandas Amnióticas/etiología , Transfusión Feto-Fetal/cirugía , Coagulación con Láser/efectos adversos , Placenta/cirugía , Complicaciones Posoperatorias/diagnóstico por imagen , Cordón Umbilical/patología , Adulto , Síndrome de Bandas Amnióticas/diagnóstico por imagen , Constricción Patológica , Femenino , Muerte Fetal , Fetoscopía , Humanos , Placenta/diagnóstico por imagen , Embarazo , Gemelos , Ultrasonografía Prenatal/métodos , Cordón Umbilical/diagnóstico por imagenRESUMEN
OBJECTIVE: Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract anomalies. Few prenatal presentations have been reported. METHOD: We analyzed the prenatal and postnatal fetal phenotype in 38 cases of FS, including 25 pregnancy termination cases, 8 intra-uterine death cases and 4 cases that died after birth. RESULTS: Including both prenatal and postnatal fetal phenotypic evaluation, all cases presented dysmorphic features with nose and ear dysplasia. Renal anomalies and syndactyly were present in 37/38 cases, cryptophtalmos in 36/38, airways anomalies in 30/37 and genital anomalies in 30/35 cases. Anomalies of the abdominal wall such as low set umbilicus and omphalocele were found in 31 cases. Among the 26 cases for which ultrasound data were available, detectable anomalies included oligohydramnios (22), ascites/hydrops (9), renal anomalies (20), evidence for high airways obstruction (11), ophthalmologic anomalies (4), ear dysplasia (2) and syndactyly (2). CONCLUSION: This study shows that the postnatal phenotype of FS is very specific, whereas oligohydramnios hampers the prenatal recognition of the cardinal FS diagnosis criteria. Association of oligohydramnios, kidney agenesis and CHAOS should lead to consider this diagnosis. © 2016 John Wiley & Sons, Ltd.
Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Múltiples/embriología , Síndrome de Fraser/diagnóstico , Síndrome de Fraser/embriología , Diagnóstico Prenatal/métodos , Obstrucción de las Vías Aéreas/diagnóstico por imagen , Obstrucción de las Vías Aéreas/embriología , Anomalías Congénitas/diagnóstico por imagen , Anomalías Congénitas/embriología , Anomalías Craneofaciales/diagnóstico , Anomalías Craneofaciales/embriología , Oído/anomalías , Oído/diagnóstico por imagen , Oído/embriología , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/embriología , Femenino , Síndrome de Fraser/diagnóstico por imagen , Edad Gestacional , Humanos , Hidropesía Fetal/diagnóstico por imagen , Recién Nacido , Riñón/anomalías , Riñón/diagnóstico por imagen , Riñón/embriología , Oligohidramnios/diagnóstico por imagen , Fenotipo , Embarazo , Sindactilia/diagnóstico por imagen , Ultrasonografía Prenatal , Anomalías Urogenitales/diagnósticoRESUMEN
Inflammatory myofibroblastic tumors (IMT) are rare tumors in children and young adults, considered by the World Health Organization to be intermediate malignancies and rarely metastasizing, with the presence of an anaplastic lymphoma kinase rearrangement in about 50% of the cases. We report the case of a teenager who presented with a metastatic aggressive IMT that was life-threatening despite multiple treatments, and which responded repeatedly to anaplastic lymphoma kinase-targeted crizotinib therapy. Crizotinib induced drastic primary tumor regression, which was sufficient to allow surgical resection and to control distant disease. This case shows that crizotinib is a promising therapy in IMT, even in adolescents and young adults.
Asunto(s)
Inflamación , Metástasis de la Neoplasia , Neoplasias de Tejido Muscular/tratamiento farmacológico , Adolescente , Quinasa de Linfoma Anaplásico , Crizotinib , Femenino , Reordenamiento Génico , Humanos , Neoplasias de Tejido Muscular/patología , Neoplasias de Tejido Muscular/cirugía , Inhibidores de Proteínas Quinasas/uso terapéutico , Pirazoles/administración & dosificación , Pirazoles/uso terapéutico , Piridinas/administración & dosificación , Piridinas/uso terapéutico , Proteínas Tirosina Quinasas Receptoras/antagonistas & inhibidores , Proteínas Tirosina Quinasas Receptoras/genéticaRESUMEN
The 22q11 deletion syndrome is one of the most common human microdeletion syndromes, with a wide spectrum of abnormalities. The fetal phenotype associated with the 22q11 deletion is poorly described in the literature. A national retrospective study was performed from 74 feto-pathological examinations. The objectives were to evaluate the circumstances of the 22q11 deletion diagnosis and to describe fetal anomalies. Post mortem examinations were performed after 66 terminations of pregnancy and eight fetal deaths. The series included nine fetuses from the first trimester, 55 from the second trimester, and ten from the third trimester. A 22q11 FISH analysis was recommended for 57 fetuses after multidisciplinary prenatal diagnostic counseling and for 17 fetuses by a fetal pathologist. Conotruncal heart defects were the most common anomalies (65 fetuses), followed by thymus defects (62 fetuses), and malformations of the urinary tract (25 fetuses). This study identified several unusual and severe features rarely described in the literature. Neurological abnormalities were described in ten fetuses, with seven neural tube defects and five arhinencephalies. This series also included lethal malformations: two hypoplastic left heart syndromes, two bilateral renal agenesis, and one tracheal agenesis. Genetic analysis for a 22q11 deletion is usually indicated when a congenital conotruncal heart and/or thymus defect is detected, but might also be useful in case of other lethal or severe malformations that initially led to the termination of pregnancy.
Asunto(s)
Síndrome de Deleción 22q11/diagnóstico , Síndrome de Deleción 22q11/genética , Feto , Fenotipo , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Adulto , Femenino , Estudios de Asociación Genética , Asesoramiento Genético , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Embarazo , Diagnóstico Prenatal , Estudios RetrospectivosRESUMEN
Pai syndrome is a rare disorder that includes midline cleft lip, pericallosal lipoma and cutaneous polyp of the face. We report a case of prenatal diagnosis using sonography and MRI. We emphasize the importance of facial examination with prenatal association of midline cleft lip and pericallosal lipoma in making the diagnosis of Pai syndrome.
Asunto(s)
Agenesia del Cuerpo Calloso/diagnóstico , Labio Leporino/diagnóstico , Coloboma/diagnóstico , Lipoma/diagnóstico , Pólipos Nasales/diagnóstico , Diagnóstico Prenatal , Enfermedades de la Piel/diagnóstico , Aborto Eugénico , Adulto , Diagnóstico Diferencial , Femenino , Humanos , Imagen por Resonancia Magnética , Embarazo , Ultrasonografía PrenatalRESUMEN
We report on a fetus with Meckel syndrome diagnosed during the 21st gestational week, hydrocephalus and bilateral hyperechogenic kidneys were then detected on ultrasonography. Fetal pathological examination showed facial dysmorphism, occipital meningoencephalocele, characteristic renal cysts, mild hepatic ductal dysplasia, hydrocephalus in association with extreme cerebellar vermis hypoplasia and brainstem anomalies. Molecular and cytogenetic analysis identified a paternally inherited CEP290/MKS4 (MIM611134) (12q21) nonsense mutation and a maternal 12q21 microdeletion. Two cases with such a mechanism have previously been described in the literature, one of them involves an inherited microdeletion. The observation of such cases highlights the existence of a pathogenic mechanism which involves deletion and point mutation, and illustrates how homozygosity can hide hemizygosity when usual sequencing methods are used. The identification of hemizygosity enables to determine precisely the molecular mechanism and to understand some phenotypic variations. As they act as complete loss of function allele, deletions might give indication on the severity of the associated point mutation. This clinical report highlights the importance of fetal pathology following termination of pregnancies in order to guide molecular analysis and the potential role of cytogenetic cryptic disorders in autosomal recessive disease. The use of polymorphic marker analysis in association with FISH or arrayCGH provided an accurate identification of molecular mechanisms, accurate genetic counseling and optimized strategy for next pregnancies or preimplantation diagnosis.
Asunto(s)
Antígenos de Neoplasias/genética , Cromosomas Humanos Par 12/genética , Trastornos de la Motilidad Ciliar/diagnóstico por imagen , Encefalocele/diagnóstico por imagen , Proteínas de Neoplasias/genética , Enfermedades Renales Poliquísticas/diagnóstico por imagen , Feto Abortado/patología , Aborto Espontáneo/genética , Proteínas de Ciclo Celular , Deleción Cromosómica , Trastornos de la Motilidad Ciliar/genética , Proteínas del Citoesqueleto , Análisis Mutacional de ADN , Encefalocele/genética , Resultado Fatal , Femenino , Humanos , Riñón/patología , Enfermedades Renales Poliquísticas/genética , Embarazo , Diagnóstico Prenatal , Retinitis Pigmentosa , Eliminación de Secuencia , UltrasonografíaRESUMEN
Hyperimmunoglobulinemia D is the less severe form of mevalonate kinase deficiency (MKD) caused by recessive inherited mutation in the mevalonate kinase gene. Hyperimmunoglobulinemia D is characterized by febrile attacks, often associated with transient digestive manifestations, such as abdominal pain, diarrhea, and vomiting. Here we report for the first time 2 patients with MKD revealed by severe neonatal colitis. Both patients had chronic bloody diarrhea and failure to thrive; 1 patient since the age of 1 month and the other since the age of 12 days. Total parenteral nutrition was required. A marked elevation of acute phase reactants was present, and no evidence of infection was found. In patient 1, ileocolonoscopy revealed ulcerative colitis at the age of 5 months. Patient 2 suffered from enterocolitis and shock, associated with multiple bowel adhesions at age 5 weeks; the rectosigmoidoscopy showed aphtoid lesions of the sigmoid colon. Pathologic findings of colonic biopsies revealed a dense polymorph inflammatory infiltrate associated with deep ulcerations. Febrile attacks occurred 2 months after the onset of digestive symptoms in patient 1, and at onset of disease in patient 2. Genomic sequencing of the mevalonate kinase gene revealed compound heterozygous mutations in both patients. Anti-interleukin-1 agent produced long-term remission of all digestive features and laboratory parameters. This report emphasizes that MKD may be the cause of severe early-onset inflammatory colitis, and must be considered by physicians, even in the absence of fever, after ruling out infections. Anti-interleukin-1 therapy may result in a dramatic improvement of MKD-related inflammatory bowel disease.
Asunto(s)
Colitis Ulcerosa/diagnóstico , Colitis Ulcerosa/etiología , Enterocolitis/diagnóstico , Enterocolitis/etiología , Deficiencia de Mevalonato Quinasa/diagnóstico , Proteínas de Fase Aguda/análisis , Colitis Ulcerosa/genética , Colonoscopía , Análisis Mutacional de ADN , Diarrea Infantil/etiología , Enterocolitis/genética , Insuficiencia de Crecimiento/etiología , Femenino , Estudios de Seguimiento , Tamización de Portadores Genéticos , Humanos , Lactante , Recién Nacido , Proteína Antagonista del Receptor de Interleucina 1/uso terapéutico , Interleucina-1/antagonistas & inhibidores , Masculino , Deficiencia de Mevalonato Quinasa/tratamiento farmacológico , Deficiencia de Mevalonato Quinasa/genética , Nutrición Parenteral Total , Fosfotransferasas (Aceptor de Grupo Alcohol)/genéticaRESUMEN
Peripheral neuroblastic tumors are the most commonly occurring extracranial tumors in children. Although a reliable diagnosis is achievable in the majority of cases, diagnosis of a minority of peripheral neuroblastic tumor cases (especially undifferentiated neuroblastoma) poses a challenge compared with that of other pediatric small round blue-cell tumors. A panel of immunohistochemical markers and fusion transcripts is available for the diagnosis of such tumors, but the markers for neuroblastoma lack specificity and sensitivity. As the transcription factor PHOX2B is highly specific for the peripheral autonomic nervous system from which peripheral neuroblastic tumors are derived, we have assessed PHOX2B immunolabeling as a diagnostic tool in pediatric small round blue-cell tumors. We observed PHOX2B expression in all peripheral neuroblastic tumors, paragangliomas, and pheochromocytomas tested but in no other pediatric tumors among the 388 cases studied by expression microarray and the 109 cases studied by immunohistochemical analysis. We then assessed the results of PHOX2B immunohistochemistry in 12 cases of undifferentiated pediatric neoplasms: PHOX2B was expressed in 6/6 undifferentiated neuroblastomas and in no other small round blue-cell tumors. Finally, we showed that PHOX2B immunohistochemical analysis improves the diagnosis of undifferentiated neuroblastoma with high specificity and sensitivity.
Asunto(s)
Biomarcadores de Tumor/análisis , Proteínas de Homeodominio/análisis , Neuroblastoma/diagnóstico , Factores de Transcripción/análisis , Adolescente , Niño , Hibridación Genómica Comparativa , Técnicas Citológicas , Ganglioneuroblastoma/diagnóstico , Ganglioneuroma/diagnóstico , Proteínas de Homeodominio/biosíntesis , Humanos , Inmunohistoquímica , Análisis por Micromatrices , Neuroblastoma/química , Neuroblastoma/genética , Neuroblastoma/metabolismo , Análisis de Secuencia por Matrices de Oligonucleótidos , ARN Mensajero/análisis , Sensibilidad y Especificidad , Factores de Transcripción/biosíntesis , Adulto JovenRESUMEN
Self-healing juvenile cutaneous mucinosis (SHJCM) is a rare disorder of unknown origin, which occurs in children in good health. It is characterized by the multiplication of transient cutaneous papules and nodules, mainly located on the head and periarticular areas that spontaneously resolve. Histological features of SHJCM have been well described; therefore, the diagnosis is usually made easily when papules are biopsied. We report a series of 3 new cases of SHJCM presenting mainly with nodular lesions. Histological examination of these nodules showed either lesions consistent with nodular or proliferative fasciitis or nonspecific panniculitis. Mucinous deposits were present but often inconspicuous, so could be disregarded. We wanted to emphasize this misleading presentation because a biopsy for histological examination is always mandatory in cases of proliferating nodules to rule out malignant tumors. Therefore, the diagnosis always requires discussion between pathologists and clinicians to rapidly reassure the parents and avoid inappropriate therapy.
Asunto(s)
Proliferación Celular , Errores Diagnósticos/prevención & control , Mucinosis/patología , Mucinas/análisis , Neoplasias Cutáneas/patología , Piel/patología , Biomarcadores/análisis , Biopsia , Preescolar , Fascitis/etiología , Fascitis/patología , Humanos , Inmunohistoquímica , Lactante , Masculino , Mucinosis/complicaciones , Mucinosis/metabolismo , Paniculitis/etiología , Paniculitis/patología , Valor Predictivo de las Pruebas , Remisión Espontánea , Piel/química , Factores de TiempoRESUMEN
OBJECTIVE: To compare results of array comparative genomic hybridization (CGH) on cell-free fetal (cff) DNA from amniotic fluid supernatant and DNA from cultured amniocytes in high-risk pregnancies. METHOD: We selected 48 cases of high-risk pregnancies (in utero growth retardation [IUGR] and/or at least two fetal malformations [polymalformation]). Bacterial artificial chromosome array CGH (BlueGnome) was performed on 38 fetal samples (frozen cff DNA and DNA from cultured cells) with previously normal karyotypes. RESULTS: From the 38 specimens, we obtained an adequate amount of sufficient quality DNA with a better quality profile using cff DNA compared to cellular DNA. Aberrations of clinical relevance were detected in three fetuses, and copy number variations considered as benign polymorphism were detected in one case using both sources of DNA. This results in an 8% detection rate of significant abnormalities in high-risk pregnancies with a normal karyotype using array CGH (two cases with IUGR, one with polymalformation). CONCLUSION: These findings indicate the possibility of using cff DNA from amniotic fluid supernatant for array CGH with excellent results, even in late pregnancy when culture is no longer available. In this small series, pathogenic copy number variations are detected more often in the presence of IUGR than with polymalformation.
Asunto(s)
Anomalías Múltiples/genética , Amniocentesis/métodos , Hibridación Genómica Comparativa/métodos , Variaciones en el Número de Copia de ADN , Retardo del Crecimiento Fetal/genética , Anomalías Múltiples/diagnóstico , Adulto , Líquido Amniótico/química , Líquido Amniótico/citología , Células Cultivadas , Cromosomas Artificiales Bacterianos/genética , ADN/sangre , Femenino , Sangre Fetal/química , Retardo del Crecimiento Fetal/diagnóstico , Edad Gestacional , Humanos , Cariotipo , Análisis de Secuencia por Matrices de Oligonucleótidos , Embarazo , Estudios RetrospectivosAsunto(s)
Cardiomiopatías/congénito , Muerte Súbita Cardíaca/etiología , Cardiomiopatías/complicaciones , Cardiomiopatías/patología , Muerte Súbita Cardíaca/patología , Electrocardiografía , Complejo III de Transporte de Electrones/deficiencia , Femenino , Humanos , Lactante , Recién Nacido , Microftalmía/complicaciones , Miocardio/patología , Enfermedades de la Piel/complicaciones , Enfermedades de la Piel/congénito , Síndrome , Fibrilación Ventricular/etiología , Síndrome de Wolff-Parkinson-White/complicacionesRESUMEN
Holoprosencephaly (HPE) is the most frequent malformation of the brain. To date, 12 different HPE loci and 8 HPE genes have been identified from recurrent chromosomal rearrangements or from the sequencing of genes from Nodal and SHH pathways. Our cohort of HPE patients presents a high genetic heterogeneity. Point mutations were found in SHH, ZIC2, SIX3, and TGIF genes in about 20% of cases (with 10% in SHH). Deletions in these same genes were found in 7.5% of the patients and 4.4% presented with other subtelomeric gain or losses. Consequently, the molecular basis of HPE remains unknown in 70% of our cohorts. To detect new HPE candidate genes, we used array-CGH to refine the previous karyotype based HPE loci map. We analyzed 111 HPE patients with high-performance Agilent oligonucleotidic arrays and found that 28 presented anomalies involving known or new potential HPE loci located on different chromosomes but with poor redundancy. This study showed an impressive rate of 19 patients among 111 with de novo chromosomal anomalies giving evidence that microrearrangements could be a major molecular mechanism in HPE. Additionally, this study opens new insights on HPE candidate genes identification giving an updated HPE candidate loci map.
Asunto(s)
Mapeo Cromosómico , Reordenamiento Génico , Holoprosencefalia/genética , Hibridación de Ácido Nucleico , Estudios de Cohortes , Eliminación de Gen , Humanos , Cariotipificación , Mutación PuntualRESUMEN
P57 protein is implicated in some human imprinting disorders such as hydatiform mole and Beckwith-Wiedemann syndrome (BWS), both characterized by mesenchymal and vascular placental abnormalities. We investigated p57 immunohistochemical expression in placental vascular proliferative disorders of preterm and term placentas, including chorangiosis (n = 5), chorangiomatosis (n = 2), chorangiomas (n = 7), umbilical cord angioma (n = 1), and placental mesenchymal dysplasia (PMD) (n = 7). P57 was expressed in decidua, cytotrophoblast, intermediate trophoblast and stromal cells of normal terminal, intermediate and stem villi, umbilical cord, chorangiosis, chorangiomatosis, and chorangiomas. In contrast, there was a loss of p57 expression in stromal cells of dysplastic stem villi in all cases of PMD regardless of whether associated with BWS or not. P57 seems to be involved in the pathogenesis of a subset of placental vascular proliferative disorders in preterm and term placentas, such as PMD. The loss of p57 expression in PMD could be of diagnostic value in helping to distinguish this rare placental lesion from its mimickers.
Asunto(s)
Inhibidor p57 de las Quinasas Dependientes de la Ciclina/biosíntesis , Enfermedades Placentarias/diagnóstico , Enfermedades Placentarias/metabolismo , Enfermedades Vasculares/diagnóstico , Enfermedades Vasculares/metabolismo , Adulto , Biomarcadores/análisis , Femenino , Humanos , Inmunohistoquímica , Placenta/metabolismo , Placenta/patología , Enfermedades Placentarias/patología , Embarazo , Nacimiento Prematuro , Enfermedades Vasculares/patologíaRESUMEN
We report a rare case of fibrosarcoma of the thigh suspected prenatally. At 27 weeks of gestation a voluminous, vascularised mass was discovered at ultrasound on the foetus' left leg, suggestive of haemangioma or a fibrosarcoma. There were no signs of heart failure. A rapid increase in the tumour mass was noted and a caesarean section was carried out at 39 weeks because of abnormal foetal heart rate. Postnatal ultrasound examination was comparable to that carried out prenatally; pathological examination of the mass biopsied and immunohistochemical investigation provided a diagnosis of congenital fibrosarcoma. After neoadjuvant chemotherapy and surgery the infant is now in complete remission without amputation.
Asunto(s)
Fibrosarcoma/diagnóstico por imagen , Muslo , Ultrasonografía Prenatal , Adulto , Diagnóstico Diferencial , Femenino , Fibrosarcoma/tratamiento farmacológico , Fibrosarcoma/cirugía , Humanos , EmbarazoRESUMEN
PURPOSE: Since the recent development of biologic agents targeting oncogenes, increasing attention has been focused on determining the role of tyrosine kinase receptors in the pathogenesis of tumors. Our study was designed to investigate the status of region 4q12, which contains the candidate gene c-kit, and the expression of c-kit by immunohistochemistry (IHC). PATIENTS AND METHODS: Paired blood and biopsy specimens of 68 children treated for high-grade primary osteosarcomas were collected. Microsatellite analysis at two genomic sites containing c-kit gene was performed on paired DNA using a sensible fluorescent polymerase chain reaction technology. To confirm the DNA data, we studied c-kit protein expression by IHC in 56 available paraffin-embedded tumor tissues. RESULTS: The frequency of allelic imbalance (AI) at locus 4q12 was 39% in the overall population. In agreement with previous studies, we did not detect microsatellite instability, allowing us to hypothesize that this pathway is not implicated. Furthermore, the normal status at locus 4q12 was associated with a significantly better survival in the whole osteosarcoma population (P = .05). IHC overexpression of c-kit was concordant in all cases presenting an AI. However, normal status at locus 4q12 was correlated to an absence of c-kit protein expression in 19 (65.5%) of 29 informative cases. CONCLUSION: Allelotyping of locus 4q12, which contains the c-kit gene, could help pediatric osteosarcoma prognostic screening and showed a strong correlation with overexpression of c-kit protein. These results allowed us to hypothesize that, in some cases, a mutation of c-kit gene could lead to a protein overexpression.
Asunto(s)
Desequilibrio Alélico , Neoplasias Óseas/genética , Cromosomas Humanos Par 4 , Perfilación de la Expresión Génica , Osteosarcoma/genética , Proteínas Proto-Oncogénicas c-kit/biosíntesis , Proteínas Proto-Oncogénicas c-kit/genética , Adolescente , Adulto , Neoplasias Óseas/patología , Niño , Preescolar , Estudios de Cohortes , Análisis Mutacional de ADN , ADN de Neoplasias/genética , Femenino , Humanos , Inmunohistoquímica , Masculino , Osteosarcoma/patología , Reacción en Cadena de la Polimerasa , Pronóstico , Análisis de SupervivenciaRESUMEN
Prenatal diagnosis of conjoined twins is rare. An accurate diagnosis is important to provide the parents the best information about the prognosis of the twins. We report a first-trimester diagnosis of an extremely rare type of conjoined twins using two-dimensional transvaginal ultrasound.
Asunto(s)
Gemelos Siameses , Ultrasonografía Prenatal , Adulto , Femenino , Edad Gestacional , Humanos , Embarazo , Cráneo , Médula Espinal , Columna Vertebral , Gemelos Siameses/embriología , Gemelos Siameses/patología , Ultrasonografía Prenatal/métodosRESUMEN
Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and learning difficulty. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, and neurological features. The condition is genetically heterogeneous, and eight genes (BBS1-BBS8) have been identified to date. A mutation of the BBS1 gene on chromosome 11q13 is observed in 30%-40% of BBS cases. In addition, a complex triallelic inheritance has been established in this disorder--that is, in some families, three mutations at two BBS loci are necessary for the disease to be expressed. The clinical features of BBS that can be observed at birth are polydactyly, kidney anomaly, hepatic fibrosis, and genital and heart malformations. Interestingly, polydactyly, cystic kidneys, and liver anomalies (hepatic fibrosis with bile-duct proliferation) are also observed in Meckel syndrome, along with occipital encephalocele. Therefore, we decided to sequence the eight BBS genes in a series of 13 antenatal cases presenting with cystic kidneys and polydactyly and/or hepatic fibrosis but no encephalocele. These fetuses were mostly diagnosed as having Meckel or "Meckel-like" syndrome. In six cases, we identified a recessive mutation in a BBS gene (three in BBS2, two in BBS4, and one in BBS6). We found a heterozygous BBS6 mutation in three additional cases. No BBS1, BBS3, BBS5, BBS7, or BBS8 mutations were identified in our series. These results suggest that the antenatal presentation of BBS may mimic Meckel syndrome.