Abstract 134

Abstract

Background: Glucocorticoid deficiency associated with achalasia of the cardia and absent tear production was described by Allgrove et al. The estimated prevalence is 1 per 10,00,000 individuals. Lanes et al. suggested that a progressive degenerative process may be responsible for the three components of the disease and coined the term ‘triple-A syndrome’ (AAAS). Gazarian et al. referred this syndrome as ‘4A syndrome’ associating various autonomic and neurologic abnormalities as components. It is an autosomal recessive disease with mutation usually in the AAAS gene on chromosome 12q13. The gene produces alacrima-achalasia-adrenal insufficiency neurologic disorder (ALADIN), which belongs to the WD-repeat family of proteins. Clark and Weber et al. pointed out that the AAAS has variable phenotypic expression. Case Report: A 9 years 9-month-old female child was referred from pediatrics for hypoglycemic seizures. Patient was apparently normal 5 years back. Parents observed blackening of the body with frequent fever, vomiting, abdominal pain and seizures for a year. She was diagnosed with hypothyroidism and seizure disorder and was prescribed levothyroxine and valproate. Addisons disease was diagnosed at another hospital and valproate was discontinued. Hydrocortisone was added. Later she discontinued the drugs. Now she has presented with similar complaints. Careful history revealed that she had “always cried without tears”, generalisedblackening of skin, recurrent vomiting and seizures. Her birth history was normal without delayed milestones. On examination she was irritable, had generalised hyperpigmentation, strabismus, pre-pubertal secondary sexual characters, and normal blood pressure. Investigations showed low serum cortisol, high ACTH, <1 mm Schirmer test score, bilateral partial optic atrophy, and bilateral thin and streaky adrenals on CT abdomen. Barium swallow did not show achalasia. In view of Alacrima, Adrenal insufficiency, and optic atrophy the diagnosis of Allgrove syndrome was considered and hydrocortisone was started. Patient has shown significant improvement. Levothyroxine was continued. Regular follow up is suggested. Discussion: Majority of the AAAS patients present with achalasia but homozygous nonsense mutation in Exon 9 (R312X) and homozygous substitution in Exon 8 (S263P) were reported by ErdalKurnaz et al. with Alacrima and adrenal insufficiency without associated achalasia at presentation. Conclusion: All children presenting with Alacrima in conjunction to Addisons disease should be suspected of Allgrove syndrome and periodically evaluated for achalasia and neurological defects as the onset can be variable.