| Autor: |
Arai, Yuto, Okanishi, Tohru, Okazaki, Tetsuya, Awano, Hiroyuki, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Tamasaki, Akiko, Maegaki, Yoshihiro |
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| Zdroj: |
BMC Pediatrics; 5/6/2024, Vol. 24 Issue 1, p1-4, 4p |
| Abstrakt: |
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 lability. 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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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