Alacrimia in a Case of Suspected Achalasia: A Phenotypic Variation of Triple A Syndrome?

Alacrimia is a known feature of triple A syndrome and causes dry eye symptoms. We present a case of alacrimia in a patient diagnosed presumptively with triple A syndrome. Case Report A 14-year-old female child, with failure to gain weight and multiple episodes of vomiting, was referred for decreased tear secretion. The child was conscious, oriented, and severely malnourished (height and weight under the 3rd centile) with a delayed developmental history [Fig. 1a].Figure 1: (a) shows the general constitution of the patient, (b) shows the absent palpebral lobe of the lacrimal gland on double eversion, (c) shows dilated esophagus on barium swallow, (d) and (e) show lack of orbital lobe, marked by white arrows, on MRI of orbitsShe had a scaphoid abdomen but no other systemic abnormalities. Her visual acuity was 6/6 in both eyes on Snellen’s charts. Under a slit lamp, a relatively dry-looking, fluorescein-stain-negative cornea and conjunctiva were noted with no visualization of the palpebral lobe of the lacrimal gland on double eversion of eyelids [Fig. 1b]. On the Schirmer-I test, the wetting of filter paper was only 5 mm in both eyes. Dilute pilocarpine (0.125%) drops instilled in both eyes showed a constriction of pupils. Her hemoglobin levels were 10.1 g/dl. Differential count, peripheral smear, red cell indices, liver function tests, and serum cortisol levels were normal. A dilated esophagus was detected on barium swallow [Fig. 1c]. Biopsy from the mid-esophagus was suggestive of reflux esophagitis. The orbital lobe could not be visualized on magnetic resonance imaging (MRI) [Fig. 1d and e]. The patient was started on high-calorie and protein-rich feeds through a nasogastric tube. Eye ointment hydroxy-propyl methyl-cellulose and eye drop carboxymethylcellulose (0.5%) were prescribed for severe dryness. On the 6-month follow-up, a weight gain of approximately 10 kg was noted with improvement in ocular surface features. Triple A syndrome (AAAS, Allgrove syndrome, OMIM#231550) was first described as an autosomal recessive disorder with features of corticotropin-resistant adrenal insufficiency, decreased or absent tearing (alacrimia), and achalasia.[1] Autonomic and neurological abnormalities were found to be associated due to mutations in the AAAS gene encoding ALADIN (for alacrimia-achalasia-adrenal insufficiency neurologic disorder).[2,3] However, authors have reported cases without any features of adrenal insufficiency.[4,5] Our case might be a part of the phenotypic spectrum of triple A syndrome. Genetic analysis is required for the genotype-phenotype assessment of this uncommon entity. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.