A case of severe malnutrition infant with neonatal onset intractable diarrhea

Abstract

Background: Congenital tufting enteropathy (CTE) is a rare disease that manifests as intractable diarrhea during the neonatal period which is associated with mutations of the epithelial cell adhesion molecule (EpCAM) gene. Case presentation: A male infant who presented with vomiting, diarrhea, abdominal distention, malnutrition and growth failure was admitted to our department when he was 2 months old. His parents were healthy and nonconsanguineous. Etiologic examinations of stool, inflammatory markers, blood gas and electrolytes levels, serum albumin level, serum immunoglobin levels were all normal. And there was no indication for metabolic diseases. Additionally, gastrointestinal contrast did not reveal abnormality of gastrointestinal. The patient was diagnosed with intestinal malabsorptive syndrome and severe malnutrition without definite cause. He was on supportive treatment and nutritional therapy for 13 months. However, he did not gain weight obviously. He was discharged at the age of 15 months and was fed with partial hydrolyzed formula and rice paste at home. Three months later he developed hypoglycemia and severe respiratory infection. Finally, he died due to sepsis and multiple organs failure. The next generation sequencing revealed one homozygous mutation of EpCAM gene and one complex heterozygous mutation of TTC7A gene. He was diagnosed CTE according to the genetic results and clinical manifestations. Conclusions: CTE is rarely reported in Asia. Patients present with congenital diarrhea, poor weight gain and growth failure are recommended to perform endoscopy examination with proper immunohistochemistry study as early as possible, and genetic testing is necessary when suspecting congenital diarrhea and enteropathy.

Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review

“…After a comprehensive analysis of previous reports on CTE and EpCAM , we found 140 mutations (48 different EpCAM mutations in 116 patients) in EpCAM from 22 studies, including missense, nonsense, frameshift, noncoding/splicing mutations, and chromosomal deletions ( Table 1 , Fig. 2 ) [ 7 10 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 ]. Among them, pathogenic variants c.491+1G>A (intron 4), c.556-14A>G (intron 6), c.492-2A>G (intron 5), and c.498insC (exon 5) were reported in five or more patients ( Fig.…”

Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report

“…In previously described cases, patients were still found to produce 7–8 watery stools per day after many years of follow up, although their development was found to be normal and no growth deficits were noted. Treatment with NaCl and KCl solutions, however, is life-long ( 10 , 11 ). Captopril has been considered to be a potential therapeutic alternative.…”

“…Watery stools in CCD are frequently confused with urine, often contributing to a delay diagnosis ( 2 ). Conditions such as microvilli inclusion disease, cystic fibrosis, Bartter syndrome and congenital tufting enteropathy may present clinically with symptoms similar to those of CCD ( 9 , 11 ). Undiagnosed CCD is a serious illness and there are only rare cases of undiagnosed children surviving past the first year of life ( 9 ).…”

Current View on EpCAM Structural Biology

“…CTE is an inherited disorder of the small intestine that results in a severe form of diarrhea [84]. To date, 42 different EPCAM mutations have been linked to CTE [83,[85][86][87][88][89][90][91][92][93][94][95]. On the protein level these mutations result in single amino acid substitutions, truncations due to frameshifts, and missing segments due to abnormal splicing.…”