Impaired tear secretion as the first symptom of triple A syndrome in two siblings
1 Department of Basic Medical Sciences, School of Public Health in Bytom, Medical University of Silesia in Katowice, Bytom, Poland
2 Paediatrics and Oncology Centre in Chorzów, City Hospitals of Chorzów, Chorzów, Poland
3 Department of Cardiac, Vascular and Endovascular Surgery and Transplantology, School of Medicine in Zabrze, Medical University of Silesia in Katowice, Zabrze, Poland
4 Department of Ophthalmology with Paediatric Unit, Medical University of Silesia in Katowice, Katowice, Poland
5 Department of Pathophysiology and Endocrinology, Faculty of Medicine in Zabrze, Medical University of Silesia, Katowice, Poland
Correspondence: Barbara Rybus-Kalinowska, MD, PhD, Department of Basic Medical Sciences, School of Public Health in Bytom, Medical University of Silesia, Piekarska 18, 41-902 Bytom, Poland, tel.: +48 32 397 65 45, fax: +48 32 397 65 37, e-mail: markal13@gmail.com
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