Triple A syndrome with ophthalmic manifestations

Session Details

Session Title: Presented Poster Session: Medical Cornea

Venue: Poster Village: Pod 3

First Author: : V.Lázaro SPAIN

Co Author(s): :    J. Botella García   D. Aragón Roca   M. De la Paz                 

Abstract Details

Purpose:

The purpose of this case is to describe an Allgrove syndrome or triple A syndrome and highlight the relevance of establishing an early diagnosis through a complete multidisciplinary clinical examination. Ophthalmological manifestations can be multiple and include, in addition to tear deficiency, keratoconjunctivitis sicca, palpebral dermatosis, lacrimal gland atrophy, alterations in pupillary reflexes, hypersensitivity to diluted myotics, anisocoria, amblyopia and optic atrophy.

Setting:

Triple A syndrome is an autosomal recessive disease whose triad includes achalasia, alacrimia and adrenal insufficiency. It may manifest in the first 2 decades of life as glucocorticoid deficiency, including hypoglycemic crisis and shock. It is associated with neurological disorders such as autonomic neuropathy, cognitive deficit, parkinsonism and dementia.

Methods:

Our report describes a 37-year-old man with sensation of a foreign body, irritation and intermittent ocular redness for several years, becoming more severe in the last year. He also presented intense photophobia and blepharospasm. As a personal history, achalasia was treated surgically at 26 years old. Ophthalmological examination revealed bulbar conjunctival hyperemia, superficial punctate keratitis, anisocoria and optic atrophy. It was classified according to the Oxford system the right eye as grade 4 and the left eye grade 2. The Schirmer test showed tear deficiency in both eyes (2 mm and 3 mm in 5 minutes).

Results:

The electrophysiological tests (visual evoked potentials, electroococulogram and electroretinogram) showed an altered response in relation to visual pathway damage. The patient was initially treated with washing with serum and lubricants. Due to the persistence of symptoms at 2 months, treatment with cyclosporin A was started, observing a clinical improvement with a decrease in the symptoms caused by tear deficiency at 3 months. The presence of 2 of the 3 main clinical signs (achalasia, alacrimia and adrenal insufficiency) is pathognomonic and the differential diagnosis can be considered when only one of these has been observed.

Conclusions:

It is important to emphasize the relevance of establishing an early diagnosis through a complete multidisciplinary clinical examination and a study of adrenal function. The treatment of dry eye is difficult to manage, with topical immunomodulators such as cyclosporin A as a good alternative for the control of symptoms when lubricants are insufficient. Finally, highlight that Allgrove syndrome presentation does not always manifest with the classic triad and some symptoms may be not present at the time of diagnosis. Ophthalmologist and pediatrician should consider it in patients with symptoms as complex as lack of growth, crying without tears and convulsions.

Financial Disclosure:

None