Triple A Syndrome
Triple A Syndrome 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.
Triple A Syndrome 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.
Triple A Syndrome 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.
Triple A Syndrome 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.
Triple A Syndrome 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.