Wolcott Rallison syndrome
Wolcott Rallison Syndrome
Wolcott Rallison Syndrome (pronounced: wuhl-kut ral-uh-suhn sin-drohm) is a rare, autosomal recessive disorder characterized by the onset of insulin-dependent diabetes mellitus in infancy or early childhood, accompanied by episodic liver dysfunction, and growth retardation. The syndrome was first described by Wolcott and Rallison in 1972.
Etymology
The syndrome is named after C.D. Wolcott and M.K. Rallison who first described the condition in 1972.
Symptoms
The primary symptoms of Wolcott Rallison Syndrome include neonatal diabetes, hepatic dysfunction, epiphyseal dysplasia, and growth retardation. Other symptoms may include pancreatic exocrine insufficiency, renal dysfunction, and anemia.
Causes
Wolcott Rallison Syndrome is caused by mutations in the EIF2AK3 gene. This gene provides instructions for making a protein that is involved in a process called protein synthesis. Mutations in the EIF2AK3 gene disrupt this process, leading to the characteristic features of Wolcott Rallison Syndrome.
Diagnosis
Diagnosis of Wolcott Rallison Syndrome is based on clinical features, including the presence of neonatal or early-onset diabetes and at least two other characteristic features. Genetic testing can confirm the diagnosis.
Treatment
Treatment for Wolcott Rallison Syndrome is symptomatic and supportive. Management may include insulin therapy for diabetes, nutritional support for pancreatic exocrine insufficiency, and various interventions for other system-specific issues.
Prognosis
The prognosis for individuals with Wolcott Rallison Syndrome varies. The severity of the disease can range from mild to severe, and life expectancy can vary widely.
See Also
External links
- Medical encyclopedia article on Wolcott Rallison syndrome
- Wikipedia's article - Wolcott Rallison syndrome
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