A Unique Observation of a Patient with Vulto-van Silfhout-de Vries Syndrome.

Introduction: Vulto-van Silfhout-de Vries Syndrome (VSVS; OMIM#615828) is a rare hereditary disease associated with impaired intellectual development and speech, delayed psychomotor development, and behavioral anomalies, including autistic behavioral traits and poor eye contact. To date, 27 patients with VSVS have been reported in the literature. Materials and Methods: We describe a 23-year-old male patient with autism spectrum disorder (ASD) who was admitted to the gastroenterological hospital with signs of pseudomembranous colitis. ASD was first noted in the patient at the age of 2.5 years. Later, he developed epileptic seizures and important growth retardation. Prior to the hospitalization, chromosomal aberrations, Fragile X syndrome, and aminoacidopathies/aminoacidurias associated with ASD were excluded. Whole-genome sequencing (WGS) was prescribed to the patient at 23 years old. Results: The patient had a heterozygous carrier of "de novo" variant c.662C > T (p.S221L) in exon 4 of the DEAF1 gene. c.662C > T had not been previously described in genomic databases. According to the ACMG criteria, this missense variant was considered to be pathogenic. VSVS was diagnosed in the patient. Conclusions: The phenotype of the patient is very similar to the data presented in the world literature. However, growth retardation and cachexia, which have not been described previously in the articles, are of interest.

Patients with functional bowel disorder have disaccharidase deficiency: A single-center study from Russia.

BACKGROUND: Functional bowel disorder (FBD) may be caused by a decrease in disaccharidase activity. Thus, the timely diagnosis of disaccharidase deficiency could lead to a better prognosis in patients with this condition. AIM: To determine the potential value of intestinal disaccharidases glucoamylase, maltase, sucrase, and lactase in understanding the etiology and pathogenesis of FBD. METHODS: A total of 82 FBD patients were examined. According to the Rome IV criteria (2016), 23 patients had diarrhea-predominant irritable bowel syndrome (IBS), 33 had functional diarrhea, 10 had constipation-predominant IBS, 4 had functional constipation, and 12 had mixed IBS. The Dahlqvist method was used to measure disaccharidase activity in the brush-border membrane of mature enterocytes of the small intestine, in duodenal biopsies obtained during esophagogastroduodenoscopy. RESULTS: Lactase deficiency was detected in 86.5% of patients, maltase deficiency in 48.7%, sucrase deficiency in 50%, and glucoamylase deficiency in 84.1%. The activities of all enzymes were reduced in 31.7% of patients, and carbohydrase deficiency was detected in 63.5% of patients. The low activity of enzymes involved in membrane digestion in the small intestine was found in 95.2% of patients. CONCLUSION: In 78 of the 82 patients with FBD, gastrointestinal symptoms were associated with disaccharidase deficiency.