Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome (pronunciation: trik-oh-hep-ah-toh-en-ter-ik sin-drohm) is a rare autosomal recessive disorder characterized by severe diarrhea in infancy, abnormal hair, facial dysmorphism, intrauterine growth retardation, and liver disease.
Etymology
The term "Tricho-hepato-enteric syndrome" is derived from the Greek words "trichos" (hair), "hepar" (liver), and "enteron" (intestine), reflecting the main organs affected by this syndrome.
Symptoms
The main symptoms of Tricho-hepato-enteric syndrome include:
- Diarrhea: This is often the first symptom, appearing in the first week of life. It is severe and persistent, leading to malnutrition and failure to thrive.
- Dysmorphic features: These include a prominent forehead, wide-set eyes, a bulbous nose, and a wide mouth with full lips.
- Liver disease: This can range from mild liver dysfunction to severe liver disease.
- Hair abnormalities: The hair is typically woolly, brittle, and easily broken. It may also be sparse or absent.
Causes
Tricho-hepato-enteric syndrome is caused by mutations in the SKIV2L or TTC37 genes. These genes are involved in the functioning of the cell's machinery for building proteins.
Diagnosis
Diagnosis is based on the presence of the characteristic symptoms and can be confirmed by genetic testing.
Treatment
Treatment is supportive and aims to manage the symptoms. This may include nutritional support for diarrhea and medications for liver disease.
See also
External links
- Medical encyclopedia article on Tricho-hepato-enteric syndrome
- Wikipedia's article - Tricho-hepato-enteric syndrome
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