Related Experiment Video
Updated: Jun 28, 2026
00:06
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
13.6K
A Case Report on Tricho-Hepato-Enteric Syndrome: The SKIC3 Gene in Focus
Thabet Zidan1, Ameer Awashra1, Ahmad Nouri1
1Faculty of Medicine and Health Sciences, An-Najah National University, Nablus, PSE.
Cureus
|May 13, 2024
Summary
Tricho-hepato-enteric syndrome (THES) is a rare genetic disorder causing severe diarrhea and growth issues. This case highlights the diagnostic and management challenges of THES in infants.
Area of Science:
- Genetics
- Pediatrics
- Gastroenterology
Background:
- Tricho-hepato-enteric syndrome (THES), a rare genetic disorder, presents with intractable diarrhea, hair anomalies, facial dysmorphism, and liver abnormalities.
- Early diagnosis and management are crucial for improving outcomes in affected children.
Observation:
- A case report of an eight-month-old male infant with persistent diarrhea, vomiting, and failure to thrive since birth.
- The infant required multiple hospital admissions and intensive care, receiving total parenteral nutrition (TPN) and supportive care.
Findings:
- Genetic testing confirmed the diagnosis of Tricho-hepato-enteric syndrome (THES).
- The patient's management involved nutritional interventions and comprehensive supportive care within the pediatric intensive care unit (PICU).
Implications:
- This case emphasizes the diagnostic complexities and critical need for specialized management of THES.
- Highlights the importance of multidisciplinary care and close monitoring for infants with syndromic diarrhea.
Related Concept Videos
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
00:59Gene Therapy
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
00:59Gene Therapy
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
01:30Leishmaniasis
Leishmaniasis is a protozoal disease caused by species of the genus Leishmania and transmitted through the bite of infected female sandflies. The parasite exists in two principal morphological forms during its life cycle. A sandfly acquires intracellular amastigotes from an infected reservoir host, such as a dog. Within the sandfly, these forms differentiate into motile, flagellated promastigotes. During a subsequent blood meal, promastigotes are injected into the human host, where they...
01:22American Trypanosomiasis
Chagas disease, or American trypanosomiasis, is a vector-borne parasitic infection caused by Trypanosoma cruzi, a flagellated protozoan (kinetoplastid) of the family Trypanosomatidae. The disease is endemic in Latin America, although cases are increasingly reported worldwide due to human migration. Transmission most commonly occurs when feces of infected triatomine bugs contaminate bite wounds or mucosal surfaces; additional routes include congenital, transfusional, transplant-related, and oral...
01:28Viral Hepatitis I: Introduction
Viral hepatitis is an inflammatory condition of the liver caused by infection with hepatotropic viruses, most commonly hepatitis A, B, C, D, and E. Despite variations in structure and transmission, all viruses mentioned infect hepatocytes and provoke immune responses that can hinder liver function. Additionally, some non-hepatotropic viruses can also lead to hepatic inflammation.Hepatitis A VirusHepatitis A virus (HAV) is transmitted through the fecal–oral route, typically by ingestion of food...