Congenital metastatic neuroblastoma with placental involvement as a rare cause of non-immune fetal hydrops.

Non-immune hydrops fetalis represents the end-stage status of a variety of diseases, including metastatic tumors. We report a case of non-immune hydrops fetalis associated with multiple disseminated echogenic nodular lesions detected by ultrasound and confirmed by magnetic resonance. Cordocentesis demonstrated anemia and thrombopenia. Differential diagnosis included histiocytosis X, acute leukemia or metastatic disease. A stillbirth was diagnosed at week 25 + 6. The autopsy revealed hydrops fetalis, a right adrenal gland mass, multiple disseminated nodules histologically composed of small round blue cells positive for synaptophysin, and placental involvement, concordant findings with congenital undifferentiated neuroblastoma Stage M. No chromosomal abnormalities were associated, nor amplification abnormalities in MYCN and ALK genes. Metastatic neuroblastoma should be considered in the differential diagnosis of non-immune hydrops fetalis associated with multiple nodular lesions.

[Congenital cystic adenomatoid malformation. Consequences of prenatal diagnosis]. / Enfermedad adenomatoidea quística pulmonar congénita. consecuencias de su diagnóstico prenatal.

BACKGROUND: Advances in technology and the specialized training of gynecologists in ultrasound have led to an increase in fetal diagnoses. Congenital cystic adenomatoid malformation (CCAM) is of particular interest because of its difficulty in predicting the disease evolution. OBJECTIVE: To review the cases of prenatal diagnosis of CCAM during the last five years in our hospital, and to analyze their evolution as a consequence of its diagnosis. PATIENTS AND METHODS: Retrospective study that reviewed the cases of CCAM between 2005 and 2010 treated in our hospital. We evaluated gestational age, type of CCAM and evolution in at least the first 12 months. RESULTS: Twenty-one cases were diagnosed (1 for every 2,660 deliveries in our hospital of reference), 3 of them with CCAM type 1 (14.3%), 8 with type 2 (38.1%) and 10 with type 3 (47.6%). Two patients proceeded with a medical interruption of pregnancy; in 11 patients lesions were stable, in eight they disappeared and one fetus suffered severe mediastinal shift with little healthy lung, and died during the first postpartum week. Four of eight cases in which the image disappeared were considered free of disease after birth. Of the 19 cases in which pregnancy was not interrupt, 15 had mediastinal shift and 6 did not; in five of them (83.3%), the image disappeared and only one remained stable. The lesion disappeared in only three cases of the 13 who had mediastinal shift (p < 0.01). Lobectomies were necessary in 8 of 19 cases, four are considered free of the disease and seven are still in follow-up. CONCLUSION: Congenital cystic adenomatoid malformation is a condition in which the council is extremely complex, but most cases evolved favorably. Severe complications such as hydrops are described in up to 25% of all CCAM.

Síndrome microcefalia-coriorretinopatía-linfedema / Microcephaly-lymphedema-chorioretinal dysplasia

El síndrome de microcefalia-coriorretinopatía-linfedema es una enfermedad rara con expresividad variable y distintos tipos de herencia. El pronóstico desde el punto de vista neurológico también es variable. Presentamos un caso de esta patología dentro del diagnóstico diferencial de la microcefalia intraútero. El diagnóstico intraútero de microcefalia es complicado debido a la difícil valoración del desarrollo neurológico que presentarán estos fetos al nacimiento, por lo que el asesoramiento a los padres debe realizarse con sumo cuidado utilizando todos los métodos y algoritmos diagnósticos a nuestro alcance (AU)

Microcephaly-lymphedema-chorioretinal dysplasia is a rare disease with variable expression and distinct forms of inheritance. The neurological prognosis also varies. We report a case of this syndrome as an entity within the differential diagnosis of intrauterine microcephaly. Intrauterine diagnosis of microcephaly is complicated by the difficulty of predicting the degree of neurological development reached by these fetuses at birth. Consequently, great care should be taken when providing parental counseling, using all the diagnostic methods and algorithms available (AU)

Situs ambiguo asociado a cardiopatía e interrupción de la vena cava inferior con continuidad de la ácigos / Situs ambiguus associated with congenital heart disease and interruption of the inferior vena, cava and with azygos continuation

Entre la lateralidad habitual (situs solitus) y laimagen completa en espejo (situs inversus) seencuentra el situs ambiguo o heterotaxia. Sus dosmodalidades principales son el isomerismoizquierdo (con poliesplenia) o el derecho (conasplenia). La heterotaxia implica alteraciones en lamovilidad ciliar que dificultan la migración deórganos embrionarios. Presenta malposición deórganos toracoabdominales, cardiopatías complejasy otras malformaciones. Presentamos un caso dediagnóstico ecográfico prenatal de isomerismoizquierdo, hígado a la izquierda y asplenia,asociado a cardiopatía e interrupción de la venacava inferior con continuidad de la ácigos. Lalateralidad de los órganos fetales debe ser partedel examen ultrasonográfico rutinario, por lasfrecuentes malformaciones asociadas a laheterotaxia

There is a spectrum of heterotaxic syndromesbetween normal organ distribution (situs solitus)and congenital conditions in which major organsare mirrored from their normal position (situsinversus). The two main modalities are leftisomerism (with polysplenia) and right isomerism(with asplenia). Heterotaxic defects involve ciliarydyskinesia, hampering migration of embryonicorgans and leading to malposition of thoracic andabdominal organs, complex cardiac defects, andother malformations. We present a case of prenatalechographic diagnosis of levocardia, with left-sidedliver, asplenia, congenital heart disease, andinterruption of the inferior vena cava with azygoscontinuation. Because of the malformationsfrequently associated with heterotaxy, the positionof fetal organs should form part of routineultrasonographic examination (AU)