Affiliation:
1. Tottori University
2. Tottori University Hospital
3. Yokohama City University Graduate School of Medicine
4. Hakuai Child Development, Home Care Support Clinic
Abstract
Abstract
Background: ASXL3-related disorder, first described in 2013, is a genetic disorder with an autosomal dominant inheritance that is caused by a heterozygous loss-of-function variant in ASXL3. The most characteristic feature is neurodevelopmental delay with consistently limited speech. Feeding difficulty is a main symptom observed in infancy. However, no adolescent case has been reported.
Case presentation: A 14-year-old girl with ASXL3-related syndrome was referred to our hospital with subacute onset of emotional liability. Limbic encephalitis was ruled out by examination; however, the patient gradually showed a lack of interest in eating, with decreased diet volume. Consequently, she experienced significant weight loss. She experienced no symptoms of bulimia, or food allergy; therefore, avoidant/restrictive food intake disorder (ARFID) was clinically suspected.
Conclusions: We reported the first case of ASXL3-related disorder with adolescent onset of feeding difficulty. ARFID was considered a cause of the feeding difficulty.
Publisher
Research Square Platform LLC
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