Naslov
Achalasia, alacrima, adrenal insufficiency, and autonomic dysfunction: Double A, triple A, or quaternary A syndrome?

Autori
Peršić, Mladen ; Prpić, Igor ; Huebner, Angela ; Severinski, Srećko

Izvornik
Journal of pediatric gastroenterology and nutrition (0277-2116) 33 (2001), 4; 503-504

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
achalasia; adrenal inszfficiency; alacrima; autosomal dysfunction

Sažetak
Achalasia is very uncommon in children. It is even more uncommon when associated with alacrima, adrenal insufficiency and abnormal autonomic and central nervous system function. We described a girl who, at the age of 22 months, developed signs of double A syndrome - achalasia and alacrima. During the following period of eight years, she developed adrenal insufficiency that was consistent with triple A syndrome. Detecting abnormal neurological findings, particularly autonomic nerve dysfunction, which became clearly manifest during the next two years, the diagnosis of triple A syndrome was confirmed. The girl has phenotypic characteristics which have not been previously described: she is very tall (> 95 centile), has asthenic build, high arched palate and very long and slender hands and feet. The entire clinical features of triple A syndrome developed during the period of ten years. Those emphasise the importance of regular check-up of children with achalasia and defective tear production due to cortisol insufficiency and/or neurological abnormalities. On the other hand, the gene for the triple A syndrome (AAAS) has been cloned and characterised permitting the early molecular confirmation of the diagnosis even if achalasia is only or presenting symptom. Visual evoked potentials, which were abnormal in the presented case, may be a useful tool to determine the dynamics of central nervous system impairments in triple A syndrome.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA