ESPE Abstracts

Introduction: Allgrove syndrome is a rare autosomal recessive disorder involving alacrymia, achalasia, Addison’s disease (3A) and neurological disorders (4A), it results from mutations in the AAAS gene located on chromosome 12q13 which codes for a protein known as ALADIN (ALacryma Achalasia aDrenal Insufficiency Neurologic disorder). Alacrymia is diagnosed by Schirmer’s test, achalasia by esophageal manometry while adrenal insufficiency is confirmed by the determination of cortisol and ACTH.

Goal: To describe the clinical and evolutionary aspects of patients who present with Allgrove syndrome in our department.

Results: Age at diagnosis is 5 ± 1.4 years, diagnostic time is 3 ± 0.6 years, Tte sex ratio is 3/1; consanguinity in only 1 case. All the patients had alacrymia. The age of the first symptoms is 2 ± 0.8 years marked by hypoglycemia with convulsions in 2 cases, vomiting in one patient and dehydration in another. Melanoderma and difficulty in ingesting solids are found in all patients, and neurological disorders in one. All patients had low cortisol with high ACTH, alacrymia confirmed by Schirmer’s test and achalasia confirmed by esogastro-duodenal endoscopy and oesogastroduodenal transit. The 3A syndrome is retained in 2 cases, the 2A syndrome in 1 case and a 4A syndrome in one case. All the patients were put on glucocorticoids, artificial tears; on average, 5 dilation sessions were performed [2-11].

Evolution: We have an average follow-up of 4 years (6 months - 8 years). Improvement in adrenal insufficiency was achieved in all patients. Successful dilations were obtained in 2 cases, the other 2 underwent a successful Heller cardiomyotomy.

Comments: Alacrymia is the most constant symptom, it has been found in all of our patients, but which unfortunately has been trivialized by parents and has gone unnoticed by doctors, the same for melanoderma. In our series, one patient had a heavy, strongly suggestive family history (the brother presented with alacrymia and achalasia and sister presented with alacrymia), which unfortunately were completely ignored, resulting in delayed diagnosis. Adrenal insufficiency was certainly improved in all our patients, but the diagnosis was made only at the stage of decompensation with the need for management at the level of the intensive care unit for one patient.

Conclusion: Allgrove syndrome is a rare disease, early diagnosis and treatment improves the prognosis. The education of parents and patients must take place at each consultation, the only guarantee of a good progression of the disease.