Allgrove Syndrome: New Pathological Variants in AAAS Gene
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Allgrove syndrome is an autosomal recessive disorder. It is also known as triple A syndrome because of its main clinical features: alacrima, achalasia, and adrenal insufficiency. Another feature, autonomic and neurological dysfunction, is also a hallmark of the disease, advocating for the syndrome to be renamed as 4A syndrome.

A 12-year-old girl was referred to our clinic for progressive bilateral decrease in visual acuity. She was known for achalasia that had been surgically treated at a very early age. On examination, she was found to have dry eye disease secondary to lacrimal insufficiency. She also had anisocoria, light-near dissociation, and bilateral optic nerve atrophy. Neurological examination and brain magnetic resonance
imaging were within normal limits. Genetic workup revealed compound heterozygosity for 2 novel variants in the AAAS gene, confirming the diagnosis of Allgrove syndrome. The patient was referred to endocrinology to screen for adrenocorticotropic hormone insufficiency. She was started on topical lubricating therapy that improved her symptoms.

This case underlines the importance of inquiring about
systemic findings in children with dry eyes. A full ophthalmological examination is warranted to further determine the underlying etiology of dry eyes, and a complete history is required to elucidate underlying diseases. In particular, congenital alacrima can occur in anhidrotic ectodermal dysplasia, Riley–Day syndrome, and Allgrove syndrome.

Source:https://journals.lww.com/corneajrnl/Abstract/2020/06000/Allgrove_Syndrome__A_Report_of_New_Pathological.21.aspx
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