Coexistence of Congenital Chylous Ascites and Congenital Hypothyroidism: Case Report

Altunhan, Hüseyin; Annagür, Alı; Ertuğrul, Sabahattin; Yüksekkaya, Hasan Ali

doi:10.5336/medsci.2011-24282

Cited by 3 publications

(8 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…While it rarely presents with ascites, there may be other accompanying congenital abnormalities. Previous studies have linked congenital hypothyroidism with congenital chylothorax [ 2 ].…”

Section: Discussionmentioning

confidence: 99%

“…This, in turn, can result in sluggish lymph flow, lymphatic system engorgement, and leakage of lymph into the peritoneal cavity, potentially causing CA. Animal studies have shown a direct link between the rate of lymphatic flow, lung liquid clearance, and adrenergic receptor activity in the lymphatic system [ 2 , 5 ].…”

Section: Discussionmentioning

confidence: 99%

“…Chylous ascites is an uncommon condition in infancy and childhood resulting from the accumulation of milky chyle rich in triglycerides into the peritoneal cavity [ 1 , 2 ].…”

Section: Introductionmentioning

confidence: 99%

“…Ultrasonography (USG) and computerized tomography (CT) aids in diagnosis by confirming the presence of fluid in abdominal cavity and excluding other causes, and the final diagnosis of CA is dependent on paracentesis [ 2 , 5 ] .…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Successful surgical treatment of congenital chylous ascites co-existed with congenital hypothyroidism: A rare case report

Roumi Jamal,

Breim,

Souleman

et al. 2023

International Journal of Surgery Case Reports

View full text Add to dashboard Cite

“…While it rarely presents with ascites, there may be other accompanying congenital abnormalities. Previous studies have linked congenital hypothyroidism with congenital chylothorax [ 2 ].…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…Chylous ascites is an uncommon condition in infancy and childhood resulting from the accumulation of milky chyle rich in triglycerides into the peritoneal cavity [ 1 , 2 ].…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Successful surgical treatment of congenital chylous ascites co-existed with congenital hypothyroidism: A rare case report

Roumi Jamal,

Breim,

Souleman

et al. 2023

International Journal of Surgery Case Reports

View full text Add to dashboard Cite

“…However, a single previous case report has described a case of CA accompanied by congenital hypothyroidism, which resolved following thyroid hormone supplementation, octreotide treatment, and a diet containing MCT. [15]…”

Section: Discussionmentioning

confidence: 99%

A case of congenital chylous ascites and hypothyroidism: coincidence or association?

Bulut¹

2020

bogazicitip

View full text Add to dashboard Cite

Congenital chylous ascites (CA) is the rare accumulation of chyle in the peritoneal cavity, often occurring in infants under three months of age. In this case study, we report a case of congenital CA detected prenatally on routine 34-week fetal ultrasound in the presence of congenital hypothyroidism. Treatment consisting of thyroid hormone supplementation, a diet high in middle-chain triglycerides and octreotide administration was undertaken. To our knowledge, this is the second case of CA in the presence of congenital hypothyroidism described in the literature.

show abstract

Assesment of pathogenic variants in the PAH gene and genotype-phenotype correlation in Phenylketonuria patients from Turkey.

Balasar,

YILMAZ,

BAŞDEMİRCİ

et al. 2024

Preprint

View full text Add to dashboard Cite

This study aims to determine the allele and genotype frequency, evaluate genotype-phenotype correlation, and contribute to the spectrum of pathogenic variants in the PAH gene. Ninety-three individuals diagnosed with PKU were included in the study. Next-generation sequencing was utilized for detecting variants in the PAH gene. Copy Number Variations in patients without biallelic pathogenic variant were investigated by Multiplex Ligation-dependent Probe Amplification method. Genotype-phenotype correlations and genotype-based phenotype predictions were examined by comparing molecular test results with BIOPKUdb database. The clinical distributions of the patients were as follows: classic PKU 21% (n=19), mild PKU 3% (n=3) and mild hyperphenylalaninemia 76% (n=71), respectively. Thirty-nine distinct variants and 70 distinct genotypes were found in patients. The most frequently observed variant was p.Ala300Ser (15%) and the most frequently observed genotype was p.Ala300Ser)/p.Ala300Ser (5,4%). Compound heterozygous genotypes (%69) were more prevalent than homozygous genotypes. Two novel variants, c.1089G>C and c.441+4A>C, were observed. Predicted metabolic phenotypes in the database showed consistency with patient phenotypes (n=33/41). BH4 responsiveness showed partial consistency with database predictions (n=13/25). Establishing genotype-phenotype correlations can facilitate personalized management approaches. Overall, this study contributes to understanding the genetic basis and clinical course of PKU.

show abstract

Coexistence of Congenital Chylous Ascites and Congenital Hypothyroidism: Case Report

Cited by 3 publications

References 11 publications

Successful surgical treatment of congenital chylous ascites co-existed with congenital hypothyroidism: A rare case report

Successful surgical treatment of congenital chylous ascites co-existed with congenital hypothyroidism: A rare case report

A case of congenital chylous ascites and hypothyroidism: coincidence or association?

Assesment of pathogenic variants in the PAH gene and genotype-phenotype correlation in Phenylketonuria patients from Turkey.

Contact Info

Product

Resources

About