Neuraminidase deficiency presenting as non-immune hydrops fetalis

A newborn infant with oedema, ascites and hepatosplenomegaly is described. In ascites fluid foamy macrophages were found, in a liver biopsy cytoplasmic inclusions and membrane-bound vacuoles were seen. Furthermore the child excreted excessive amounts of sialic acid-rich oligosaccharides in the urine, and therefore a neurovisceral degenerative disorder was assumed. The diagnosis of sialidosis was confirmed by enzymatic assay in cultured fibroblasts, in which a complete deficiency of the lysosomal enzyme neuraminidase could be demonstrated. After recurrent septicaemias the child became dystrophic and died at the age of 6 months. Our case is compared with sialidoses observed by other authors, the wide phenotypic diversity within this biochemical defect is emphasised. The occurrence of hydrops fetalis in lysosomal storage diseases is discussed.     

Severe hydrops fetalis due to congenital supraventricular tachycardia

Intrauterine supraventricular tachycardia is one of the main causes of non-immunological intrauterine hydrops fetalis. Without early diagnosis and treatment it may terminate in fetal death or delivery of a baby with severe hydrops and extrene heart failure.With the improvement in non-invasive imaging techniques in prenatal medicine, this condition can be diagnosed early and treated successfully. A case is described of such a newborn diagnosed in utero and treated before and after delivery, and the different therapeutic approaches to congenital supraventricular tachycardia are discussed.     

33 例非免疫性胎儿水肿临床特征及转归

目的探讨非免疫性胎儿水肿(NIHF)临床特征及转归。方法回顾分析2014年1月—2016年12月收治的33例NIHF新生儿的临床资料,将其分为死亡组和治愈组,进行两组间各因素的比较分析。结果 33例患儿中,男16例、女17例,中位胎龄33.4周(31.2～35.1周),出生体质量(2 714±712)g,死亡20例。死亡组出生体质量、1分钟及5分钟Apgar评分低于治愈组,差异均有统计学意义(P0.05)。新生儿产时复苏插管组和未插管组的母亲孕期合并症发生率及宫内干预率的差异有统计学意义(P0.05)。宫内干预是导致新生儿需产时复苏的独立危险因素(OR=15.30,95%CI:2.46～95.19);1分钟Apgar评分是NIHF疾病转归的独立危险因素(OR=1.75,95%CI:1.20～2.53),评分越低、死亡率越高。结论宫内干预与产时需要复苏有关,而1分钟Apgar评分是影响NIHF结局的重要因素。     

Short-term and long-term outcomes of 214 cases of non-immune hydrops fetalis

Despite advances in diagnosis and management, non-immune hydrops fetalis (NIHF) has a high mortality rate. Perinatal survival depends on the underlying disorder and the gestational age at diagnosis. As prognostic information is limited, this study acquired data regarding the neurological development of perinatal survivors.We performed a retrospective chart review of 214 cases in which NIHF was diagnosed antenatally. We recorded maternal demographic characteristics and interventions and their effectiveness, as well as the short-term outcome (survival) and long-term outcome including developmental quotients. Among the affected fetuses, 91 (42.5%) survived the perinatal period. Fetuses with chylothorax, chyloascites, or meconium peritonitis, and those in whom therapy was effective, had high survival rates irrespective of the type of intrauterine intervention. The subsequent intact survival rate was 28/56 (50.0%), with intact defined as ratio of the number of infants with normal development to the number of all infants followed. In contrast to the perinatal survival rate, the intact survival rate decreased as gestational age at diagnosis advanced. These findings suggest that the long-term intact survival rate depends on the underlying cause of NIHF. Additionally, while survival was improved with intensive perinatal care during the perinatal period, aggressive perinatal intervention was not a prognostic factor for neurological outcome.     

Long-term outcome of 51 liveborn neonates with non-immune hydrops fetalis

To search for an efficient method of management of non-immune hydrops fetalis (NIHF), the clinical outcome of 51 newborns with NIHF was retrospectively assessed in a single centre. As the short-term outcome, the mortality rate was mainly dependent on the causes of NIHF and the presence of pleural effusion. The survival rate of the patients with pleural effusion (7/28; 25%) was significantly lower than that of those without it (14/23; 61%) (p < 0.02). All 7 survivors with pleural effusion were diagnosed antenatally after 29 weeks of gestation and were delivered after 31 weeks of gestation. With respect to the long-term outcome, 13 (68.4%) of 19 patients who survived beyond 1 y of age showed normal development, 2 mild developmental delay at 1 y of age and 1 mental retardation at 8 y of age, while 3 (15.8%) had severe psychomotor retardation with marked growth failure. Two of these three patients were born as very-low-birthweight infants. The follow-up results indicate that pleural drainage in utero and prevention of premature delivery should be proposed to improve the outcome of NIHF patients.     

Diffuse neonatal haemangiomatosis with intra-uterine haemorrhage and hydrops fetalis: a case reporte

A case of diffuse neonatal haemangiomatosis involving the skin, liver, lungs, adrenals, gums, diaphragm, skull, and testes is reported. Intra-uterine onset of bleeding led to bloody amniotic fluid, severe anaemia, congestive heart failure, and hydrops fetalis. Intractable coagulopathy and renal failure resulted in persistent bleeding, anuria, metabolic acidosis, and hyperkalaemia, leading to a fatal outcome.     

Pulmonary vasculature changes associated with idiopathic closure of the ductus arteriosus and hydrops fetalis

Summary Antenatal closure of the ductus arteriosus has been considered as a potential risk factor for the development of hydrops fetalis and persistent fetal circulation of the newborn. We present an infant with antenatal ductal closure who had not received prenatal prostaglandin synthetase inhibitors. The pulmonary vascular morphological findings are described and compared to three additional infants in whom the ductus arteriosus was known to be patent; one with neonatal sepsis and two others with hydrops fetalis.The infants with fetal hydrops, regardless of etiology, had increased muscularization of the acinar pulmonary arteries. In addition, the infant with antenatal closure of the ductus arteriosus also had both a significant decrease in preacinar arterial external diameter and an increase in medial wall thickness. Antenatal closure of the ductus arteriosus appears to enhancein utero pulmonary blood flow and this may be the cause of pulmonary vascular remodeling.     

Giant cystic meconium peritonitis with hydrops fetalis

A case of giant cystic meconium peritonitis associated with hydrops fetalis is reported. An excellent outcome was obtained by surgical intervention following prenatal diagnosis and adequate perinatal management. Correspondence to: Kenji Imura     

Congenital systemic Langerhans cell histiocytosis presenting as hydrops fetalis

Congenital Langerhans cell histiocytosis (LCH) encompasses a wide spectrum of disease involvement and severity. Congenital "self-healing" cutaneous LCH represents one end of the spectrum, whereas the case we encountered represents the other extreme. A rare case of congenital LCH with severe multiorgan involvement presenting as hydrops fetalis is described in this report. Hydrops fetalis has not previously been associated with congenital LCH. The overall clinical features of this infant closely mimicked those of disseminated congenital infection, and he ran a fulminant and rapidly fatal course. CONCLUSION: A high index of suspicion is required to diagnose congenital LCH in the early neonatal period. Hydrops fetalis is an ominous sign and probably reflects severe systemic disease compromising the well-being of the fetus.     

Familial bilateral congenital diaphragmatic hernia

Familial inheritance of congenital diaphragmatic hernia is uncommon. We report two siblings with identical bilateral diaphragmatic defects. Accepted: 17 April 1998     

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 occurrence of congenital diaphragmatic hernia

Familial occurrence of congenital diaphragmatic hernia is rare. This is only the second case of parent-to-child inheritance and the first case of father-to-son inheritance. The available data point toward a multifactorial mode of genetic transmission.     

Non-immune hydrops fetalis and bilateral pulmonary hypoplasia in a newborn infant with extralobar pulmonary sequestration

Extralobar pulmonary sequestration was found in a newborn premature infait that presented with non-immune hydrops fetalis, massive bilateral hydrothorax and polyhydramnios in utero. The baby died of severe respiratory insufficiency 15 h after birth. Postmortem examination revealed distended lymphatic vessels in the sequestered lung tissue probably due to impeded lymph drainage. We suggest that not extralobar pulmonary sequestration itself but a subsequent massive unilateral hydrothorax due to severe obstruction of lymph drainage was the cause of the non-immune hydrops fetalis, pulmonary hypoplasia and polyhydramnios. If these symptoms are diagnosed before delivery, a search for extralobar pulmonary sequestration is indicated.     

Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency

The authors report a case of hydrops fetalis due to severe pyruvate kinase deficiency, the most unusual clinical manifestation of this disease. Conclusion Pyruvate kinase deficiency, as other erythrocyte enzymopathies, must be considered in the differential diagnosis of non-immune hydrops fetalis. This has important implications for clinical investigations, therapy and genetic counselling. Received: 15 November 1998 / Accepted in revised form: 17 April 1999     

Atrial fibrillation with neonatal pulmonary lymphangiectasia

A female infant born at 28 weeks' gestation was found to have mild hydrops foetalis. Initial echocardiography showed a structurally normal heart. During the first week of life, episodic atrial tachycardia with 1:1 or 2:1 conduction was seen, requiring therapy with digoxin. The infant remained ventilator dependent, with a persistent, chylous pleural effusion which contained a preponderance of lymphocytes. Congenital pulmonary lymphangiectasia (CPL) was confirmed histologically. Worsening episodes of atrial tachycardia, including episodes of atrial fibrillation, were further investigated and a repeat echocardiogram revealed thickening of the entire right atrial wall. The cardiac findings of a thickened right atrial wall with the histological signs of myocarditis were thought to be the cause of paroxysms of atrial fibrillation, an extremely rare arrhythmia in the neonatal period. To the authors' knowledge there have been no previous reports of CPL in association with the cardiac abnormalities described herein.     

Non-immunologic hydrops fetalis and congenital chylothorax

A child was born at the 37th week of pregnancy with hydrops fetalis. Hydramnios and hydrothorax had been proven by fetal ultrasonography. No fetal or maternal etiology was found. At age 4 days, at the beginning of enteral nutrition, the pleural effusion became characteristic of chylothorax. Recovery occurred after 2 weeks of parenteral nutrition. Chylothorax might be an unrecognized etiology of non immune hydrops fetalis. The relationships between both conditions and the interest of prenatal treatment are discussed.     

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: 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