[Allgrove's syndrome].

BACKGROUND

Triple A syndrome is an autosomal recessive disease causing achalasia, alacrima and adrenal involvement with isolated glucocorticoid deficiency. Less than 70 cases have been reported worldwide. We report a case of familial adrenal insufficiency with hyperpigmentation diagnosed in a 14 month-old child.

METHODS

A 2 year-old boy, a product of consanguineous parents, was referred to our institution for evaluation of melanoderma. Since birth the boy had suffered from vomiting and diarrhea. Aged 6 months, mucosal erosive lesions had appeared associated with fever and further complicated at the age of one year by alacrima. At the age of 14 months, hyperpigmentation of all the skin had occurred. The family history is significant: two siblings (a girl and a boy) died of hypoglycemia with melanoderma and alacrima at the age of 5 and 3 respectively. Physical examination showed generalized hyperpigmentation particularly marked on the lips and genitalia. The genitalia of our patient were normal. Cortisol was 23.7 microns/l (normal: 193-772); ACTH was 11,722 pg/ml (normal: 10-60) and computed tomography of the abdomen confirmed adrenal gland hypoplasia. Treatment was initiated with hydrocortisone at the dose of 10 mg/day. At the age of 3, the boy developed plantar hyperkeratosis. When solid food was introduced, vomiting and regurgitation increased. An oesophagogram with fibroscopy revealed achalasia of the cardia. This was successfully corrected by surgery. Schimer's test confirmed alacrima.

CONCLUSIONS

Our case report, characteristic of triple A syndrome, is unusual in view of the presence of plantar keratoderma and absence of any neurological abnormalities.