Impaired tear secretion as the first symptom of triple A syndrome in two siblings
Barbara Rybus-Kalinowska1,2, Mariusz Kalinowski3, Beata Łabuz-Roszak1, Brygida Adamek1, Bogumiła Wójcik-Niklewska4, Jakub Warakomski5, Lidia Hyla-Klekot2
Affiliation and address for correspondence
Pediatr Med Rodz 2018, 14 (4), p. 421–424
DOI:
10.15557/PiMR.2018.0056
Abstract
Triple A syndrome is a rare, autosomal recessive disease. It is characterised by a triad of symptoms: alacrima, adrenocortical insufficiency and oesophageal achalasia. Atrophy of the optic nerve and a number of neurological disorders also occur in patients with this syndrome. Only about one hundred cases have been described in the literature since the first description by Allgrove in 1978. This paper presents a case report of siblings diagnosed with triple A syndrome. A 6-year-old girl developed adrenocortical insufficiency, axonal-demyelinating polyneuropathy and oesophageal achalasia, while her 3-year-old brother showed an abnormal adrenal reserve. Both children presented with the lack of tears during crying.
Keywords
triple A syndrome, child, dry eye
