Triple A Syndrome

Below you will find more information about Triple A Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Triple A Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Triple A Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Triple A Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Triple-A syndrome or Allgrove syndrome is a rare autosomal recessive disorder discovered by Jeremy Allgrove and colleagues in 1978. The name Triple A stands for achalasia-addisonianism-alacrima syndrome. This means that affected individuals have adrenal insufficiency, alacrima (absence of tear secretion), and achalasia. The latter means failure of a ring of muscle fibers such as the sphincter, to relax.

Diagnosis

A lacimal gland biopsy may be performed as well as CT scans to diagnose Triple-A syndrome. Obtaining a baseline serum glucose concentration and performing a lumbar puncture may be conducted among patients with seizure.

Treatment

Medical treatment includes replacement of glucocortisoids in patients with known adrenal insufficiency. Those with achalasia are best managed with surgical correction while those with alacrima are managed with regular application of topical lubricants and with punctual occlusion.

Symptoms and Signs

Most cases present classic symptoms of primary adrenal sufficiency, which includes hypoglycemic seizures and shock. Patients also have a distinct facial appearance; they usually have a long thin face with a long philtrum, narrow upper lip, and a down-turned mouth. Microcephaly is also frequently associated with the disorder but it is still unclear if it is a primary manifestation or just a reflection of recurrent hypoglycemia and/or malnutrition.

Causes

The specific cause of the disease is not known though many authors have investigated the genetic basis. In 2000, Huebner and others said that they have mapped the syndrome to a 6 cM interval on human chromosome 12q13 near the type II keratin gene cluster.

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