Several authors published descriptions of a more global autonomic disturbance associated with the original three. Affected individuals have between two and four of these relatively common clinical problems. The triplea allgrove syndrome is characterized by the triad of familial adrenoinsufficiency due to corticotropin acth resistance, achalasia swallowing difficulties, and alacrima deficient secretion of tears. Allgrove syndrome is a rare disorder due to mutation in aaas gene encoding aladin protein on 12q locus and is an autosomal recessive disorder with variable. Triple a 3a syndrome or allgrove syndrome is a multisystem disorder first described in 1978, which classically involves the triad of esophageal achalasia, alacrima, and adrenocorticotropin hormone acthresistant adrenal insufficiency. Allgrove syndrome, indian journal of pediatrics 10. This is the first report providing an uptodated analysis of the ocular surface in an affected patient. Iranian journal of pediatrics allgrove syndrome in. Most people with triple a syndrome have all three of these features, although some have only two.
The association of adrenal and neurologic disease in the triplea syndrome is similar to that in xlinked adrenoleukodystrophy. Mutant wdrepeat protein in triplea syndrome nature. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126. Late onset adrenal insufficiency and achalasia in allgrove. Allgrove syndrome triple a syndrome is a rare autosomal recessive condition with adrenal insufficiency, achalasia and alacrima. Allgrove, or triple a, syndrome is a similar disorder to fgd, with additional features of alacrima and achalasia. It can lead to severe feeding difficulties and low blood sugar hypoglycemia. Allgrove s syndrome is a rare autosomalrecessive disorder with only about 70 cases reported thus far and is characterized by alacrima, achalasia, and acth. This disease is now known to be caused by mutation in the aaas gene located on chromosome 12q. It was later determined that an extra partial or complete chromosome 21 results in the characteristics associated with down syndrome. Allgroves syndrome definition of allgroves syndrome by. Figure patients tongue and family tree a small, spastic, furrowed tongue seen in allgrove syndrome. Triple a allgrove syndrome was first described by allgrove in 1978 in two pairs of siblings. The latter condition involved delayed passage of food into the stomach and.
Loss of the nucleoporin aladin in central nervous system. Patients usually display the triad of achalasia, alacrima, and adrenocorticotropin acth insensitive adrenal insufficiency, though the presentation is inconsistent. Triple a syndrome aaa or allgrove syndrome is a rare, autosomal recessive disorder that usually manifests with 3 main cardinal symptoms. This patient with allgrove syndrome, who developed symptoms of severe lifethreatening adrenal insufficiency at age allgrove syndrome. Triple a syndrome is an inherited condition characterized by three specific features. Allgrove syndrome, also known as triple a syndrome, is an autosomal recessive disorder characterized by adrenocorticotropin hormone acthresistant adrenal. If you have problems viewing pdf files, download the latest version of adobe reader. Early diagnosis, confirmed with genetic testing, is essential to initiate an appropriate followup and prevent a lifethreatening addisonian crisis. The syndrome is also associated with variable progressive neurological impairment and dermatological abnormalities. Allgrove syndrome is a rare autosomal recessive disorder, first described in 1978. Triple a syndrome, 4 a syndrome, achalasiaaddisonianismalacrima syndrome disease summary. A progressive neurological syndrome including central. The aim of the present paper is to report the anesthesia administration to a patient who was planned to undergo heller myotomy for achalasia.
Often the first manifestation of adrenal hypoplasia is addisonian crisis precipitated by infection or trauma. Documenting cholinergic dysfunction by autonomic tests, the journal of pediatrics on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Manifestations in adult patients are rarely reported. Identification of aaas gene mutation in allgrove syndrome. Presenting in the first decade of life, it is frequently associated with progressive neurologic dysfunction, polyneuropathy, deafness, mental retardation, and hyperkeratosis of palms and soles houlden et al, 2002. For specific syndromes, see under the name, such as adrenogenital syndrome or reyes syndrome. Allgrove syndrome as mim 231550 is a rare, autosomal recessive, systemic disease, caused by mutations in the aaas gene. It is an uncommon idiopathic primary neuromascular disorder involving the smooth muscle layer of the esophagus and the. Achalasia is derived from a greek word meaning disruption of relaxation2. Clinical picture is characterized by achalasia, alacrimia and acthresistant adrenal failure. Allgroves 4a syndrome determines ocular surface changes.
In 1978, allgrove and colleagues described two unrelated pairs of siblings with isolated glucocorticoid deficiency and achalasia of the esophagus cardia. We present case of a 9yearold boy who presented in shock due to adrenal failure later confirmed to have allgove syndrome. The fourth a of the 4a syndrome pediatric neurology. The syndrome was first identified by jeremy allgrove and colleagues in 1978. As is also known as 3a syndrome or, with the addition of autonomic. Triple a allgrove syndrome is characterized by achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. Neurologic problems persist in up to 20 percent of patients with the disease, and onehalf of these patients are severely disabled. Allgrove syndrome consists of triad of adrenal hypoplasia, achalasia cardia and alacrimia. Allgrove syndrome or triple a syndrome involves adrenal insufficiency as a result of resistance to adrenocorticotropic hormone acth, achalasia and alacrima, often associated with neurological signs. Allgrove syndrome is considered an autosomal recessive disorder with variable presentation. It is a neglected disease, commonly manifesting with the triad of adrenal insufficiency, achalasia of the esophageal cardia and alacrima aaa. Although most cases of allgrove syndrome are diagnosed during childhood, awareness of this condition when undiagnosed in adults is crucial, as it is life threatening, and can severely affect neurological, sexual and psychological. Triplea syndrome or aaa syndrome, is a rare autosomal recessive congenital disorder. Allgrove syndrome as is rare autosomal recessive disorder characterised by achalasia cardia, alacrimia and adrenal insufficiency, which is generally.
Dysphagia in a patient with addisons disease could be due to oesophageal candidiasis as a part of polyglandular autoimmune syndrome i or achalasia cardia as a part of triple a syndrome. Triple a syndrome genetic and rare diseases information. Herein, we report a new case of this rare genetic disease, which is of interest because of its dermatological mode of discovery. Since then, about 100 cases have been reported, all of them displaying an autosomal recessive pattern of inheritance. Peroral endoscopic myotomy in a child with triple a. The disorder usually manifests within the first decade of life with alacrima andor achalasia, followed by glucocorticoid deficiency.
This gene encodes for the wdrepeatcontaining protein aladin, a highly conserved nucleoporin nup, whose complex function is still under debate. There wasnot property in the patient whom allgrove syndrome was excepted any steroid treatment in preoperative period. The small, spastic, and furrowed tongue of allgrove syndrome. Allgroves or 4 a syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and acth insensitivity among other features. Allgrove syndrome is a rare autosomal recessive disorder.
Allgrove syndrome, or triple a syndrome 3a syndrome, is a rare autosomal recessive syndrome with variable phenotype, and an estimated prevalence of 1 per 1,000,000 individuals. Longitudinal neuropsychological profile in a patient with. In 1978, a syndrome of familial glucocorticoid deficiency associated with achalasia of oesophageal cardia and deficient tear production was described by allgrove et al1 and was subsequently referred to as allgrove syndrome as. For language access assistance, contact the ncats public information officer. Clinical and genetic characterization of families with.
Triple a or allgrove syndrome is characterized by three main conditions. Get your full text copy in pdf american journal of case. Considering that the triple a syndrome is a progressive disorder which can take years to develop the fullblown clinical picture, these patients require periodical medical controls. Case report open access triple a allgrove syndrome. It is characterized by triad of achalasia, alacrima and adrenal hypoplasia. In 1996, weber et al2 localised as to the achalasiaaddisonianismalacrimia syndrome aaas gene on chromosome 12q.
Allgrove syndrome with features of familial dysautonomia. Allgrove syndrome an overview sciencedirect topics. Allgrove syndrome has been reported in male and female blacks, whites, hispanics, native americans, indians, and arabs around the world. Triple a syndrome is an inherited condition characterized by three. Recent studies have identified mutations in the aaas, a candidate gene on chromosome 12q in such patients. There are also associated autonomic and neurological manifestations. A syndrome is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency glucocorticoid in the majority of cases and autonomicneurological abnormalities. No evidence suggests that race affects the frequency. Allgrove syndrome is a rare genetic disease that is characterized by the triad of achalasia, alacrima, and adrenal insufficiency. An 18yearsold male caucasian patient, with a complex progressive gait disorder and adrenal insufficiency, was referred for ophthalmic evaluation, as part of the clinical assessment.
To our knowledge, this report is the first describing neuropsychological profile and cooccurring psychopathological problems in a child with triple a syndrome. The syndrome involves achalasia, addisonianism adrenal insufficiency of primary type, and alacrima insufficiency of tears. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. Allgrove syndrome is a rare autosomal recessive syndrome of unknown prevalence. Administration of anesthesia in a patient with allgrove. The first case of allgrove syndrome was reported in 1978 by allgrove. B family tree of the presenting allgrove family arrow indicates the proband, along with the compound heterozygous mutations g15k, c.
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