SERKAL syndrome
SERKAL syndrome
SERKAL syndrome (pronounced: /sɜːrˈkæl/), is a rare genetic disorder characterized by a combination of symptoms including seizures, encephalopathy, retardation, kyphosis, and abnormal leukocyte count. The syndrome was first described in the medical literature in the late 20th century.
Etymology
The term "SERKAL" is an acronym derived from the initial letters of the main symptoms associated with the syndrome: Seizures, Encephalopathy, Retardation, Kyphosis, Abnormal leukocyte count, and Leukodystrophy.
Symptoms
The main symptoms of SERKAL syndrome include:
- Seizures: Uncontrolled electrical activity in the brain, which may produce a physical convulsion, minor physical signs, thought disturbances, or a combination of symptoms.
- Encephalopathy: A broad term used to describe abnormal brain function or brain structure.
- Retardation: A term used to describe a delay or deficiency in mental development.
- Kyphosis: A spinal disorder in which an excessive outward curve of the spine results in an abnormal rounding of the upper back.
- Abnormal leukocyte count: An abnormal number of white blood cells (leukocytes) in the blood. Leukocytes are used by the body to combat infections and other foreign substances.
Diagnosis
Diagnosis of SERKAL syndrome is typically based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.
Treatment
Treatment of SERKAL syndrome is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of specialists.
External links
- Medical encyclopedia article on SERKAL syndrome
- Wikipedia's article - SERKAL syndrome
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