ESPE Abstracts (2014) 82 P-D-3-1-629

Endocrinology Department, University Children’s Hospital, Sofia, Bulgaria

Background: Allgrove sydrome (triple A, 4 A syndrome) is a rare autosomal recessive disorder, characterized by the triad of ACTH resistant adrenal insufficiency, alacrima and achalasia. In addition many patients show progressive neurologic impairment such as progressive paripheral polyneuropathy, hyperreflexia, nasal speech and disautonomia. It is now known that mutations of the ADRACALIN (AAAS) gene on the 12q13, that encodes the protein ALADIN, are responsible for the clinical presentation.

Objective and hypotheses: An 18 years old girl, from normal pregnancy of no consanguineous parents, who came at our hospital for first time at the age of ten, with complain of lower limb weakness. In the next 2 years present neurologic symptoms progressed and new ones appeared. There was an episode of severe hypoglycemia and several ones with serious vomiting imposing hospital admission. In addition hyperpigmentation, hypotension, alacrima and mild optical atrophy were observed in the following years.

Method: Clinical evaluation, laboratory tests of hormones, electrolytes, biochemical indices, electromyography, ophthalmologic examination, barium esophagography and molecular genetic analysis.

Results: Laboratory testing proved the ACTH resistant adrenal insufficiency with extremely high ACTH 600 ng/l (7.20–63.3), low free urine cortisol 35 nmol/24 h (100–379), alacrima, motor and sensory peripheral polyneuropathy and excluded achalasia of the cardia. Normal values of very long chain fatty acids in serum excluded adrenoleucodystrophy. A molecular genetic analysis showed two heterozygous mutations of the AAAS gene, which confirmed the clinical diagnosis. The patient receives treatment with hydrocortisone, fludrocortisone, topical eye lubricants and rehabilitation. She is now 18 years old with normal height, weight, mental development and still mild neurologic symptoms.

Conclusion: There is great variability in the time and order of presentation of symptoms. It is crucial for the patient’s quality of life and lifespan to receive an early diagnosis and efficient treatment in order to avoid life threatening complications as in presented case.

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