Abstract

Isolated congenital absence of lacrimal glands is a very rare condition in children, only few cases were reported so far. Its symptoms can be quite variable depending on the other associated factors like absence of accessary lacrimal glands and/or salivary glands. Children with isolated absence of lacrimal gland can have normal tear film but lack tear production upon emotional stimuli. Although, alacrima can be a part of other rare syndromes, isolated absence has never been reported in the literature in association with autism spectrum disorder. In this article we present a case of alacrima with autism spectrum disorder, never reported in the literature to our knowledge. With increasing recognition of autism spectrum disorder, it is important to report common and rare association of other clinical co-morbidities as this may influence the initial presentation posing diagnostic challenges to the diagnosticians. In this case the lack of tears with the emotional stimuli was considered exclusively caused by the lack of social-emotional reciprocity, which is one of the core symptoms of autism spectrum disorder.

Highlights

  • Isolated congenital absence of lacrimal glands is a very rare condition in children, only few cases were reported so far

  • The core symptoms of social communication and interaction difficulty along with restricted and repetitive behaviour are often associated with other internalising and externalising behaviour such as anxiety, sensory processing disorder and ADHD

  • In this article we present a 3-year-old girl with alacrima, who was initially referred for further assessment because of lack of tears with emotional stimuli

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Summary

Case report

A three-year old girl underwent comprehensive assessment by the speech pathologist and psychologist due to the maternal concern of her difficult behaviour and delayed speech in the context of complete absence of tears even at the height of emotional stimuli. The rest of the ophthalmological examination including extraocular muscles and fundus were normal. She had normal salivation and there was no abnormality on her teeth, hair and skin. The symptoms of isolated absence of lacrimal gland can be variable ranging from a complete absence to reduced secretion of tears in response to emotional stimulation but a normal secretory response on normal blinking to complete dry eyes. This is due to the presence of accessary lacrimal glands which causes normal tear films. There are only few case reports of congenital alacrima in different parts of the world including Saudi Arabia, Tunisia and Brazil [5,6,7,8,9,10,11,12,13]

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