Search

Background: Chylous ascites (CA) is very rare in the pediatric population. It is defined as whitish ascitic fluid with lymphocyte predominance. Congenital CA is probably the most common cause of CA in children. We report a case of an infant with CA; the cause of which remains unidentified, with full recovery. We have included a relevant literature review as well. Case Presentation: A previously well 4-month-old baby girl was referred for worsening ascites. Despite extensive workup, no cause was found. Treatment options including diuretics, medium chain triglyceride formula (MCT) feeds, abdominal paracentesis, and total parenteral nutrition (TPN) were attempted. She recovered fully with no residual morbidity. Conclusion: CA very rare in the pediatric population. Extensive workup excluded known causes and the yield was negative. Treatment is mainly supportive. MCT formula, fasting, and TPN were reported to have variable effects. Surgery could required in limited cases. [ABSTRACT FROM AUTHOR]

Congenital chylous ascites (CCA) is a rare condition seen in the neonatal period. The pathogenesis is primarily related to congenital intestinal lymphangiectasis. Conservative treatment of chylous ascites involves paracentesis, total parenteral nutrition (TPN), medium-chain triglyceride (MCT)-based milk formula, use of somatostatin analogue and octreotide. Surgical treatment is considered when conservative treatment fails. We describe a laparoscopic treatment of CCA using the fibrin glue technique. A male infant, in whom foetal ascites was detected at 19 weeks of gestation, was born by caesarean section at 35 weeks of gestation weighing 3760 g. There was evidence of hydrops in the foetal scan. A diagnosis of chylous ascites was made by abdominal paracentesis. A magnetic resonance scan was suggestive of gross ascites, and no lymphatic malformation was identified. TPN and octreotide infusion was started and continued for 4 weeks, but the ascites persisted. The failure of conservative treatment led us to perform laparoscopic exploration. Intraoperatively, chylous ascites and multiple prominent lymphatic vessels around the root of the mesentery were noted. The fibrin glue was applied over the leaking mesenteric lymphatic vessels in the duodenopancreatic region. Oral feeding was started from post-operative day 7. After 2 weeks of the MCT formula, ascites progressed. Thus, laparoscopic exploration was necessary. We introduced an endoscopic applicator for fibrin glue and applied it into the place of leakage. The patient was doing well with no appearance of ascites reaccumulating and was discharged on the 45th post-operative day. Follow-up ultrasonography (1st, 3rd and 9th months after discharge) showed a small amount of ascitic fluid but with no clinical significance. Laparoscopic localisation and ligation of leakage sites could be difficult, especially in newborns and young infants due to the small size of lymphatic vessels. The use of fibrin glue to seal the lymphatic vessels is quite promising. [ABSTRACT FROM AUTHOR]

Autoinflammatory diseases are caused by pathologic activation of the innate immune system. Primary hemophagocytic lymphohistiocytosis (HLH) is an aggressive syndrome of excessive immune activation caused by monogenic mutations resulting in cytotoxic cell defects and subsequent failure to eliminate activated macrophages. Secondary HLH is often diagnosed in cases without a known Mendelian inheritance. However, some cases of “secondary” HLH have been shown to harbor mutations with partial dysfunction of the cytotoxic system. Recently, macrophage intrinsic abnormalities caused by NLRC4 inflammasome mutations have been linked to autoinflammation and recurrent macrophage activation syndromes resembling a primary HLH. We report a case of a former 28-week preterm infant with congenital anemia, ascites, and a heavy edematous placenta with fetal thrombotic vasculopathy, who developed hepatosplenomegaly and unexplained systemic inflammation with laboratory features of HLH in the early postnatal course and died at 2 months of age. Postmortem examination confirmed the hepatosplenomegaly with marked sinusoidal hemophagocytosis, along with striking hemophagocytosis in the bone marrow and lymph nodes. There was extensive acute and chronic ischemic bowel disease with matted bowel loops, fibrous adhesions, and patchy necrotizing enterocolitis features. Whole exome sequencing analysis demonstrated a novel mosaic heterozygous NLRC4 512 C> T (p.Ser171Phe) de novo mutation predicated to cause a dominant, gain-of-function mutation resulting in a constitutively active protein. The assembly of NLRC4-containing inflammasomes via an induced self-propagation mechanism likely enables a perpetuating process of systemic macrophage activation, presumed to be initiated in utero in this patient. [ABSTRACT FROM AUTHOR]

Neonatal ascites is commonly the result of hematologic disorders that lead to hydropsfetalis; less frequently it may be caused by non-immunological disorders. One of the rare causes of non-immunological disorders aremetabolical diseases. We hereby present the case of a 5 month old infant in which 4D ultrasound performed at 24 weeks of gestation revealed increased fetal abdominal circumference by fluid accumulation in peritoneal cavity. The presence of congenital isolated ascites along with the peculiar aspect of the infant - dysmorphic features that included frontal bossing, depressed nasal bridge and broad nasal tip, large low-set ears, long philtrum, macroglossia, broad hands and feet, brachydactyly and joint contractures, coarse skin, hepatosplenomegaly, and inguinal hernia, along with biochemical analysis of β-galactosidase enzyme in leucocytes lead to the diagnosis of GM1 gangliosidosis. [ABSTRACT FROM AUTHOR]

Background: Lysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. The reported incidence is about 1%. The incidence of idiopathic NIHF is estimated to be about 18%. Patients and methods: We report four cases with transient hydrops fetalis resulting from LSD and performed a literature review on LSD with NIHF and congenital ascites in combination. Results: At present, 12 different LSDs are described to be associated with NIHF or congenital ascites. Most patients had a family history of NIHF, where the preceding sibling had not been examined. A diagnostic approach to the fetus with NIHF due to suspected LSD either in utero or postnatal is suggested. Transient forms of NIHF and/or ascites in association with MPS IVA, MPS VII and NPC are described for the first time in this publication. Conclusions: LSD should be considered in transient hydrops. Enzymatic studies in chorionic villous sample or amniotic cultured cells, once the most common conditions associated with fetal ascites or hydrops have been ruled out, are important. This paper emphasizes the fact that LSD is significantly higher than the estimated 1% in previous studies, which is important for genetic counseling as there is a high risk of recurrence and the availability of enzyme replacement therapy for an increasing number of LSD. [ABSTRACT FROM AUTHOR]

A case of a neonate with congenital chylous ascites resulting from primary lymphatic dysplasia is described. The baby also presented with a sludge ball in the gallbladder that eventually progressed to gallstones. The association of chylous ascites with cholelithiasis in this neonate is discussed. [ABSTRACT FROM AUTHOR]