Triple A Sendromlu Bir Olgudaki Göz Problemleri ve Tedavi Yaklaşımı

1. 1Gaziantep University Medical School, Department Of Ophthalmology, Gaziantep, Turkey
2. 2Gaziantep University Medical School, Department Of Dermatology, Gaziantep, Turkey
3. 3Gaziantep University Medical School, Department Of Gastroentoroloji, Gaziantep, Turkey
4. 4Gaziantep University Medical School, Department Of Endocrinology, Gaziantep, Turkey

Sorumlu Yazar: In order to facilitate the diagnosis, after the first report of triple-A syndrome, cases with typical triad (adrenal insufficiency, alacrimia and achalasia) were described. Alacrimia is the early and one of the cardinal features of the syndrome.1 Other features of the syndrome such as achalasia and adrenal insufficiency may be observed in further stages of the diseases.2 Of the approximately 100 cases reported so far, some have autonomic disorders dominating the clinical phenotype. Osteoporosis, xerostomia, accommodative exotropia are examples of these disorders.3,4 Babu et al.5 have evaluated the ocular manifestations of two affected siblings, and in addition to dry eyes, they have observed diminished pupillary light reflex. They have suggested that this was due to autonomic disregulation that could be seen in patients affected with the syndrome. In addition to the classic triad of the syndrome, our case had large-angle divergence excess type of intermittent exotropia, normal mental and motor abilities, generalized and progressive hyperpigmentation of the skin and mucosa, and hearing loss. Although most of the published cases in literature are children, el-Rayyes et al.6 have reported a 24-year-old case with hypoglycemia in whom the diagnosis was made by means of an adrenocorticotropic hormone (ACTH) stimulation test. However, the authors believe that the diagnosis should depend on genetic testing. Up-to-date, the genetic studies demonstrated two leading mutations related to triple-A syndrome: an IVSC14+1 G–A mutation and a R155P mutation in exon 6. It is believed that the existence of R155P mutation in triple-A gene (ALADIN) is more valuable than stimulation tests in adults.3 Younger cases, however, presented with hypoglycemic crisis. Moreover, there is emphasis on mental retardation in both reports.7,8 Due to lack of consent by the patient’s parents, we were unable to held genetic analysis. In our case, there was no mental or motor retardation. This may point out to a large phenotypic spectrum among the patients reported. On the other hand, these cases might have been diagnosed in the advanced stages of the disease. In pediatric cases, placing punctal plugs is a good option to resolve dry eye symptoms. Moreover, if a strabismus surgery for any kind of tropia was planned, both procedures can be done simultaneously, which will reduce the total time spent under general anesthesia. Triple-A syndrome, also known as achalasia-addisonianism-alacrimia syndrome or Allgrove syndrome, is a rare autosomal and life-threatening congenital progressive disorder. The affected patients typically have adrenal insufficiency due to ACTH resistance. The importance of this case is her having large-angle intermittent exotropia and the usage of punctal plugs in treatment of dry eye. In these cases, which generally concerns pediatric ophthalmology, a detailed neurological exam and hearing test are warranted in addition to a detailed ophthalmologic examination. Address for Correspondence/Yazisma Adresi: Seydi Okumus MD, Gaziantep University Medical School, Department of Ophthalmology, Gaziantep, Turkey  Phone: +90 342 360 60 60 Gsm: +90 530 342 83 62 E-mail: seydiokumus@hotmail.com Received/Gelis Tarihi: 19.07.2011 Accepted/Kabul Tarihi: 14.02.2012