Author(s):
1. RAHMAN AHMAD:
Department of Pediatrics Medicine, Mayo Hospital, Lahore, Pakistan
2. MARYAM:
Department of Pediatrics Medicine, Mayo Hospital, Lahore, Pakistan
3. MUNEEBA AKBAR:
Department of Pediatrics Medicine, Mayo Hospital, Lahore, Pakistan
4. Muhammad Ashfaq Zafar:
Department of Pediatrics Medicine, Mayo Hospital, Lahore, Pakistan
Abstract:
Allgrove syndrome is one of the rare hereditary disorders with autosomal recessive inheritance. Mutation in AAAS gene on chromosome 12q13 encoding ALADIN protein leads to alacrima, achalasia, adrenal insufficiency and multiple rare features. We present a case of allgrove syndrome diagnosed on history and examination with alacrima evident at the age of 6 months, achalasia and adrenal insufficiency at the age of 3 years and 11 years respectively, dental variations i.e., missing of permanent premolars and malformed lateral incisors at the age of 10-11 years. In this particular case report, association of this syndrome with congenitally missed permanent premolars and malformed lateral incisors has been established which is a novel and rare feature observed in allgrove syndrome patients. Patients with allgrove syndrome usually manifest alacrima, achalasia and adrenal insufficiency during the first two decades of life.
Page(s):
112-116
DOI:
DOI not available
Published:
Journal: Pakistan Paediatric Journal, Volume: 45, Issue: 1, Year: 2021
Keywords:
Hypodontia
,
Achalasia
,
Dental involvement
,
Adrenal insufficiency
,
Alacrima
,
Allgrove syndrome
References:
References are not available for this document.
Citations
Citations are not available for this document.