An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty.
BMC Pediatr
; 24(1): 308, 2024 May 06.
Article
en En
| MEDLINE
| ID: mdl-38711055
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 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.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Trastornos de Alimentación y de la Ingestión de Alimentos
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Facies
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Trastornos del Neurodesarrollo
Límite:
Adolescent
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Female
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Humans
Idioma:
En
Revista:
BMC Pediatr
Asunto de la revista:
PEDIATRIA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Japón