Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease

The authors describe a case of disseminated lipogranulomatosis (Farber disease) presenting as nonimmune hydrops fetalis. This is the tenth lysosomal storage disease which can show this clinical manifestation. The literature is reviewed for all hydrops cases associated with lysosomal storage diseases. Conclusion Although rare, the lysosomal storage diseases collectively are significant causes of non-immune hydrops and appropriate investigations are required in all cases of unexplained hydrops fetalis. Received: 25 July 1996 / Accepted: 21 August 1996     

Hydrops fetalis and fibrosarcoma: case report of an uncommon association

Fetal hydrops associated with neonatal tumours is an uncommon occurrence. The diagnosis can be established prenatally by ultrasound examination. The treatment of choice is surgery which may be curative. We report the case of a male born at 32 weeks gestation who presented with severe hydrops fetalis and a thoracic mass. The child could not be operated upon because of rapid clinical deterioration. The autopsy findings confirmed the diagnosis of congenital fibrosarcoma. This is, to our knowledge, the first case of hydrops fetalis associated with fibrosarcoma. Conclusion The association of hydrops fetalis and fibrosarcoma is an exceptional observation but can be added to the long list of differential diagnoses of non-immune hydrops. Received: 28 November 1995 / Accepted: 31 May 1996     

Familial non-immune hydrops fetalis and congenital pulmonary lymphangiectasia

We report on three siblings with non-immune hydrops fetalis. Congenital pulmonary lymphangiectasia was diagnosed in two of them. One of these, a girl still alive and suffering from frequent airway infections, has bilateral pleural effusions and distal congenital lymphoedema. Conclusion To our knowledge, this is the first report of non-immune hydrops fetalis and congenital pulmonary lymphangiectasia occurring in siblings. Received: 4 February 1997 and in revised form: 23 September 1997 / Accepted: 23 September 1997     

Primary neuraminidase deficiency with prenatal disclosure

The authors report a case of infantile sialidosis with hydrops fetalis and heart failure. At birth the baby presented a dysmorphic syndrome with histological anomalies. A storage disease with deficiency of neuraminidase activity, sialidosis type II, was confirmed. Amniocentesis with sialic-acid dosage or thin-layed chromatography seems necessary in hydrops fetalis with heart failure of unknown origin.     

Hydrops fetalis and fibrosarcoma: case report of an uncommon association

Fetal hydrops associated with neonatal tumours is an uncommon occurrence. The diagnosis can be established prenatally by ultrasound examination. The treatment of choice is surgery which may be curative. We report the case of a male born at 32 weeks gestation who presented with severe hydrops fetalis and a thoracic mass. The child could not be operated upon because of rapid clinical deterioration. The autopsy findings confirmed the diagnosis of congenital fibrosarcoma. This is, to our knowledge, the first case of hydrops fetalis associated with fibrosarcoma. Conclusion The association of hydrops fetalis and fibrosarcoma is an exceptional observation but can be added to the long list of differential diagnoses of non-immune hydrops.     

Glucose phosphate isomerase (GPI) Tadikonda: Characterization of a novel Pro340Ser mutation

After a thirty-year lag, we serendipitously reestablished contact with a patient with glucose phosphate isomerase deficiency and hydrops fetalis first reported in 1987. We now provide a clinical update and provide results of mutation analysis in this patient, from Southern India. The patient now an adult female of 36 years of age has moderate anemia but requires no transfusions except with some intercurrent illnesses. Exome sequencing studies showed a homozygous c.1018C>T (Pro340Ser) mutation in exon 12 of the glucose phosphate isomerase gene and later confirmed by direct sequencing. This mutation has not been previously described. To our knowledge, this is also the first known homozygous mutation in the hydrophobic core of the protein and is a highly deleterious mutation by in silico analysis and by clinical history in the family. Flow cytometry studies of band 3 content with eosin maleimide showed a unique tail of red cells on histograms, reflecting the dense red cells (presumably ATP depleted) seen on blood smears; similar findings were seen in patients with pyruvate kinase and phosphoglycerate kinase deficiency.     

Homozygous α-thalassaemia and hypospadias – common aetiology or incidental association?

Fetuses with homozygous α-thalassaemia develop Hb Bart's hydrops fetalis syndrome, which usually leads either to abortion or fetal/neonatal death. We report diagnosis, intrauterine transfusion therapy, neonatal intensive care management and long-term follow-up of a Vietnamese infant who survived Hb Bart's hydrops fetalis syndrome. During the first 2 years the child had normal development. In addition, the patient exhibited penoscrotal hypospadias. Despite a thorough endocrinological work-up the aetiology of genital ambiguity could not be elucidated. A review of the literature showed an association of homozygous α-thalassaemia and hypospadias in all surviving male children, suggesting a common aetiology for both entities. Conclusion On the basis of our findings, we speculate that an unknown gene on chromosome 16 responsible for genital formation is altered in homozygous α-thalassaemia. Received: 4 May 1998 / Accepted in revised form: 24 July 1998     

Anti-C(w) alloimmunization presenting as hydrops fetalis

C(w) is a low frequency red cell antigen that belongs to the Rh blood groups system. While not uncommon, anti-C(w) is rarely associated with clinically significant haemolytic disease of the newborn (HDN). When it does occur, it is often subclinical or of mild to moderate clinical severity. In the majority of pregnancies it is considered to be a naturally occurring antibody and has not been reported to cause hydrops fetalis or stillbirth. We report a case of anti-C(w) alloimmunization, which was associated with significant anaemia and hydrops fetalis, presenting at 35 wk gestation. Conclusion: Pregnancies affected by anti-C(w) merit closer scrutiny. Consideration should be given to performing more frequent antenatal ultrasound assessments to detect hydrops fetalis. This may help to support the need for more invasive procedures (cordocentesis and intrauterine transfusions).     

Nonimmune hydrops fetalis part II: does etiology influence mortality?

Hydrops fetalis is a condition in which there is an excess of total body fluid, primarily within the fetal interstitial spaces. Etymologically, hydrops fetalis is a Latin term meaning "edema of the fetus." In addition to generalized edema, the fetus has at least one of the following: ascites, pericardial effusion, pleural effusion(s), and an abnormally thick (>6 cm) placenta. Hydrops is classified as nonimmune hydrops fetalis (NIHF) when it occurs without evidence of isoimmunization.     

Non-immune fetal hydrops with hepatic hemangioendothelioma and Kasabach-Merritt syndrome: a case report

A premature infant presented with non-immune hydrops fetalis, a liver mass, thrombocytopenia, and hypofibrinogenemia. Histologic examination of the liver tumor showed an infantile hemangioendothelioma. The clinical features of this case can be explained by anemia, hypoalbuminemia, and coagulopathy. The association with Kasabach-Merritt syndrome, the pathophysiology of non-immune hydrops fetalis, and primary hepatic neoplasms of the neonate are discussed.     

Cardiac Abnormalities and Nonimmune Hydrops Fetalis: a Coincidental, Not Causal, Relationship

Few conditions associated with nonimmune hydrops fetalis have had a demonstrable causal relationship. Congenital heart disease is often said to be a cause of nonimmune hydrops fetalis and antenatal closure of the foramen ovale is the cardiac abnormality most frequently reported in association with hydrops. In order to examine the role of congenital heart disease in hydrops, and, in particular, that of antenatal closure of the foramen ovale, we reviewed all autopsy cases with hydrops fetalis over an 11 year period and compared cardiac anomalies with those of nonhydropic controls. The incidence of various congenital heart malformations was not significantly different among these groups, suggesting that factors in addition to cardiac anomalies must be considered in the pathogenesis of nonimmune hydrops fetalis.     

Non-Immune Fetal Hydrops with Hepatic Hemangioendothelioma and Kasabach-Merritt Syndrome: a Case Report

A premature infant presented with non-immune hydrops fetalis, a liver mass, thrombocytopenia, and hypofibrinogenemia. Histologic examination of the liver tumor showed an infantile hemangioendothelioma. The clinical features of this case can be explained by anemia, hypoalbuminemia, and coagulopathy. The association with Kasabach-Merritt syndrome, the pathophysiology of non-immune hydrops fetalis, and primary hepatic neoplasms of the neonate are discussed.     

Cardiac abnormalities and nonimmune hydrops fetalis: a coincidental, not causal, relationship

Few conditions associated with nonimmune hydrops fetalis have had a demonstrable causal relationship. Congenital heart disease is often said to be a cause of nonimmune hydrops fetalis and antenatal closure of the foramen ovale is the cardiac abnormality most frequently reported in association with hydrops. In order to examine the role of congenital heart disease in hydrops, and, in particular, that of antenatal closure of the foramen ovale, we reviewed all autopsy cases with hydrops fetalis over an 11 year period and compared cardiac anomalies with those of nonhydropic controls. The incidence of various congenital heart malformations was not significantly different among these groups, suggesting that factors in addition to cardiac anomalies must be considered in the pathogenesis of nonimmune hydrops fetalis.     

Hydrops fetalis, hydramnios and hepatic vascular malformation associated with cutaneous hemangioma and chorioangioma.

A premature baby presented with severe hydrops fetalis due to a multifocal angiomatous malformation of the liver. There were two other small vascular tumors: hemangioma of the skin and chorioangioma. Hydramnios and placental edema were also present. The association of severe hydrops fetalis and hydramnios with angiomatous malformation of the liver was not found in reviewing the literature.     

A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.

BACKGROUND: In the heterogeneous group of mitochondrial disorders, patients with the same genotype can show different phenotypes and the same phenotype can be caused by different genotypes. We describe a family with the m.14709T>C mutation and a clinical presentation of hydrops fetalis, in contrast to previous reports in which patients presented with myopathy and/or diabetes mellitus. AIM: To identify a mutation in the mtDNA of a family with a heterogeneous clinical presentation. METHODS: Both biochemical and molecular analyses were performed. RESULTS: Biochemical results showed a decreased complex I and IV activity in muscle tissue of the patients. A mosaic-staining pattern for complex I in the patients' fibroblasts was revealed using immunocytochemistry. Molecular analyses identified the m.14709T>C mutation in the mitochondrial encoded tRNA(Glu) gene. CONCLUSION: We report 2 siblings with the m.14709T>C mutation in the mitochondrial tRNA(Glu) gene. The first patient showed hydrops fetalis, a new presentation within the clinical spectrum of this mutation, and the other a known presentation namely mild myopathy.     

HYDROPS FETALIS, HYDRAMNIOS AND HEPATIC VASCULAR MALFORMATION ASSOCIATED WITH CUTANEOUS HEMANGIOMA AND CHORIOANGIOMA

ABSTRACT. A premature baby presented with severe hydrops fetalis due to a multifocal angiomatous malformation of the liver. There were two other small vascular tumors: hemangioma of the skin and chorioangioma. Hydramnios and placental edema were also present. The association of severe hydrops fetalis and hydramnios with angiomatous malformation of the liver was not found in reviewing the literature.     

Diamond-Blackfan syndrome: an unusual cause of hydrops fetalis

An unusual case of Diamond-Blackfan syndrome whose initial presentation was hydrops fetalis is presented. Diamond-Blackfan syndrome and the pathophysiology of hydrops fetalis in severely anemic infants are briefly reviewed.     

Hydrops fetalis associated with Noonan syndrome]

A case of Noonan syndrome associated with hydrops fetalis has been reported; it is recalled that morphological anomalies common to both Turner and Noonan syndromes depend on similar lymphatic anomalies. In the present case it is therefore proposed that the malformations of Noonan syndrome and hydrops fetalis proceed from the same lymphatic anomalies.     

以胎儿水肿为特征的先天性甲状腺功能减低症 1 例报告

目的探讨胎儿水肿的鉴别诊断和新生儿期先天性甲状腺功能减低症的罕见表现。方法回顾性分析1例因胎儿水肿导致产时窒息和呼吸衰竭,最终诊断为先天性甲状腺功能减低症的新生儿病例的临床资料,并复习相关文献。结果患儿女,维吾尔族,胎龄38+5周,因宫内窘迫剖宫产,出生后发现全身性皮下水肿伴青紫和呼吸困难。予气管插管呼吸机辅助通气;日龄1 d甲状腺功能测定发现血清促甲状腺激素??100 m U/L,游离甲状腺素6.56 pmol/L;超声提示甲状腺未发育。应用左旋甲状腺素片替代治疗后临床症状好转,日龄8 d撤离呼吸机。根据临床和实验室监测调整用药剂量,于日龄18 d时带药出院门诊随访。结论先天性甲状腺功能减低症可成为胎儿水肿的病因,应注意鉴别诊断。     

Hydrops fetalis caused by severe alpha-thalassemia.

Alpha-thalassemia is a prevalent condition in South East Asia and spreading because of increasing immigration. Hemodynamic study of Hb Bart's hydrops fetalis, the most severe form of alpha-thalassemia, showed the fetuses were in a hyperdynamic circulatory state and were also more acidotic, hypoxic, and hypercarvic than normal fetuses. The most common molecular defects of Hb Bart's hydrops fetalis was the Southeast Asia type deletion. Prenatal diagnosis of Hb Bart's hydrops fetalis and HbH diseases has been achieved using chorionic villi sampling or fetal blood sampling.