Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 36-1 Nishi-Cho, Yonago, 683-8504, Tottori, Japan.
Department of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
BMC Pediatr. 2024 May 6;24(1):308. doi: 10.1186/s12887-024-04774-3.
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.
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.
We reported the first case of ASXL3-related disorder with adolescent onset of feeding difficulty. ARFID was considered a cause of the feeding difficulty.
ASXL3 相关疾病于 2013 年首次被描述，是一种常染色体显性遗传的遗传疾病，由 ASXL3 的杂合功能丧失变异引起。最典型的特征是神经发育迟缓，且言语表达始终受限。喂养困难是婴儿期的主要症状。然而，尚无青少年病例报道。
一名 14 岁的女孩因 ASXL3 相关综合征被转至我院，起病呈亚急性，表现为情绪波动。通过检查排除了边缘性脑炎；然而，患者逐渐出现进食兴趣减退，食量减少，导致体重明显减轻。她没有出现暴食或食物过敏的症状；因此，临床上怀疑为选择性摄食障碍（ARFID）。
我们报道了首例 ASXL3 相关疾病，患者为青少年，起病时出现喂养困难。ARFID 被认为是喂养困难的一个原因。
