Allgrove syndrome


Allgrove Syndrome

Description, causes and Risk Factors:

Also called as Triple A syndrome.

Abbreviation: AS.

allgrove syndrome

Allgrove syndrome (AS), also known as Triple-A syndrome is a rare autosomal recessive disease that has been mapped to chromosome 12q13. General manifestation of this chromosome include isolated glucocorticoid failure (hypoglycemia, weakness, fatigue, anorexia, nausea, vomiting, constipation, abdominal pain, diarrhea, salt carving, postural dizziness, weight loss, hypotension, hyperpigmentation, vitiligo, auricular calcification, electrolyte disturbances, anemia, eosinophilia, hypothyroidism), alacrima, and achalasia.1, 2, 4, 5.

Other manifestations consist of palmoplantar hyperkeratosis, short stature, gonadal failure, microcephaly, osteoporosis, and pes cavus. Neurological abnormalities comprise autonomic, sensory, and motor neuropathies, progressive spastic tetraparesis, dysarthria, dysphagia, prolonged nerve conduction, muscle weakness, distal limb atrophy, deafness, mild mental retardation, optic atrophy, anisocoria, periventricular brain heterotopias, mild dementia, and cerebellar ataxia.

Accumulated evidence indicates that triple-A syndrome results from abnormal development of the autonomic nervous system. It bears clinical similarities with amyotrophic lateral sclerosis. This syndrome is unresponsive to ACTH because several kinds of mutations in the ACTH receptor genes have been reported. However, the apparently normal ACTH receptor gene in affected children suggest that the etiology of AS is probably heterogeneous. Achalasia is very uncommon in children. It is still more uncommon when associated with alacrima and adrenal insufficiency.

Neurological manifestations of AS are not well described in the literature and many have reported only some of them. It is a rare cause of congenital adrenal insufficiency due to ACTH hormone resistance.

Globally, the pathology of this syndrome may be due, in part, to a progressive loss of cholinergic function throughout the body. Parental consanguinity and previously affected siblings are the primary risk factors, although many patients have no such family history.

Symptoms:

Age of onset of symptoms is variable; the glucocorticoid deficiency is not apparent at birth but develops during the first 2 decades of life. Alacrimia is typically present from early infancy, while symptoms of achalasia may appear in individuals as you as 6 months or as late as early childhood. Many cases presents with classic symptoms or primary adrenal insufficiency including hypoglycemic seizures and shocks. Skin examination of patient reveals hyperpigmentation, hyperkeratosis, and fine fissuring of the palms and soles.

Diagnosis:

Triple A (Allgrove) syndrome is characterized by achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. Affected individuals have between two and four of these relatively common clinical problems; hence the diagnosis is often difficult in all but the classical presentation. The inheritance is autosomal recessive, and most cases of triple A have no family history. Using genetic linkage analysis in a small number of families, a locus on chromosome 12q13 was identified. The triple A gene was identified recently at this locus and called ALADIN (alacrima, achalasia, adrenal insufficiency, neurologic disorder). Associated neurological abnormalities include optic atrophy, autonomic neuropathy and upper and lower motor neurone signs including distal motor neuropathy and amyotrophy with severe selective ulnar nerve involvement.

It is suggest that the diagnosis of triple A syndrome should be considered in patients who exhibit only one or two of the main symptoms (i.e. alacrima, achalasia or adrenal insufficiency). These patients require careful neurological investigation, and mutation analysis of the AAAS gene should be performed.

Treatment:

Patients with Allgrove syndrome who undergo surgery must be treated with stress doses of glucocorticoids in the perioperative period.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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