ABSTRACT
Septal agenesis is a rare cerebral developmental anomaly characterized by partial or complete absence of the septum pellucidum (ASP). Septal agenesis may be associated with various congenital brain malformations, namely holoprosencephaly, septooptic dysplasia (SOD), schizencephaly or agenesis of the corpus callosum. Current imaging technologies do not enable differentiation in utero between isolated ASP and SOD. This is due to the fact that optic nerve hypoplasia and endocrine anomalies are never ruled out completely. We report a case of prenatal diagnosis of isolated ASP based on 2D and 3D ultrasound and fetal MRI. Postnatal MRI confirmed prenatal findings and the boy is currently doing well at 18 months of age.
Subject(s)
Prenatal Diagnosis , Septo-Optic Dysplasia/diagnosis , Septum Pellucidum/embryology , Adult , Diagnosis, Differential , Echoencephalography , Female , Humans , Imaging, Three-Dimensional , Infant, Newborn , Magnetic Resonance Imaging , Male , Pregnancy , Pregnancy Trimester, Second , Septo-Optic Dysplasia/diagnostic imaging , Septo-Optic Dysplasia/embryology , Septo-Optic Dysplasia/pathology , Septum Pellucidum/diagnostic imaging , Septum Pellucidum/pathology , Term Birth , Visual Pathways/diagnostic imaging , Visual Pathways/embryology , Visual Pathways/pathology , Young AdultABSTRACT
OBJECTIVE: Nonimmune hydrops fetalis (NIHF) is defined by the excessive fluid accumulation in more than one foetal compartments and body cavities because of nonimmune reasons. It has been described that 14 lysosomal diseases may be causative of NIHF. The aim of this study was to design a fast protocol to investigate the most frequent lysosomal diseases that are reported that may cause NIHF. METHOD: We analysed the glycosaminoglycans excretion in the amniotic fluid supernatant and four different lysosomal enzymatic activities in the amniotic cultured cells of the different NIHF amniotic fluids we received. RESULTS: We investigated 30 NIHF cases, using this fast protocol. We detected two cases of NIHF because of lysosomal diseases, which represent 6.6%. We diagnosed one case of mucopolysaccharidosis type VII and one case of Gaucher disease. CONCLUSION: The fast protocol we designed analyses seven of the most frequent lysosomal pathologies that have been described that may cause NIHF, with only five different determinations, which make the analysis of NIHF fast, cost-effective and without need of too much amniotic fluid. We believe this protocol may be useful for the analysis of lysosomal diseases in NIHF.
Subject(s)
Hydrops Fetalis/diagnosis , Hydrops Fetalis/etiology , Lysosomal Storage Diseases/complications , Lysosomal Storage Diseases/diagnosis , Prenatal Diagnosis/methods , Adult , Amniotic Fluid/chemistry , Amniotic Fluid/cytology , Amniotic Fluid/metabolism , Female , Gaucher Disease/complications , Gaucher Disease/diagnosis , Gaucher Disease/diagnostic imaging , Humans , Hydrops Fetalis/epidemiology , Hydrops Fetalis/metabolism , Lysosomal Storage Diseases/epidemiology , Pregnancy , Time Factors , UltrasonographyABSTRACT
BACKGROUND: Giant placental chorioangiomas have been associated with a number of severe fetal complications and high perinatal mortality. CASE PRESENTATION: We report a case of giant chorioangioma with fetal hydrops, additionally complicated by severe anemia, mild cardiomegaly with hyperdinamic heart circulation and maternal mirror syndrome. Intrauterine blood transfusion and amniodrainage was performed at 29 weeks. Worsening of the fetal and maternal condition prompted us to proceed with delivery at 29 + 5 weeks. The newborn died 3 hours later due to pulmonary hypoplasia and hemodynamic failure. Maternal course was favourable, mirror syndrome resolved in the second day and the patient was discharged four days following delivery. CONCLUSIONS: In the case described here, fetal condition got worse despite of the anemia correction and amniodrainage. Our outcome raises the issue whether additional intrauterine clinical intervention, as intersticial laser, should have been performed to stop further deterioration of the fetal condition when progressive severe hydrops develops.
Subject(s)
Anemia/complications , Hemangioma/complications , Hydrops Fetalis/diagnostic imaging , Placenta Diseases/diagnostic imaging , Pregnancy Complications, Neoplastic/diagnostic imaging , Adult , Anemia/therapy , Blood Transfusion, Intrauterine , Cardiomegaly/complications , Cardiomegaly/diagnostic imaging , Cesarean Section , Edema , Female , Fetal Diseases/diagnostic imaging , Fetal Diseases/therapy , Hemangioma/pathology , Hepatic Insufficiency , Humans , Hypokalemia , Hypoproteinemia , Oliguria , Placenta Diseases/pathology , Pregnancy , Pregnancy Complications, Neoplastic/pathology , Syndrome , Ultrasonography, PrenatalABSTRACT
Presentamos el caso de una gestante en la cual se lleva a cabo el diagnóstico de hidrops fetal, a las 17 semanas de embarazo, en dos gestaciones consecutivas. Descartada la etiología inmune, en la segunda gestación se investigó -entre otras- la asociación con enfermedades de depósito lisosomal, detectándose actividad disminuida de la beta-glucuronidasa en amniocitos cultivados y perfil de glucosaminoglucanos en líquido amniótico, indicativos de enfermedad de Sly o mucopolisacaridosis tipo VII, de herencia autosómica recesiva (AU)
We report the case of a pregnant woman who was diagnosed with hydrops fetalis at 17 weeks in two consecutive pregnancies. Once an immune origin was ruled out, the association with lysosomal storage diseases was investigated during the second pregnancy. This showed decreased activity of beta-glucuronidase in cultured cells and a glycosaminoglycan profile in amniotic fluid, indicative of Sly disease or mucopolysaccharidosis type VII which is inherited in an autosomal recessive pattern (AU)
