Objective: This study describe the clinical case of Bainbridge-Ropers syndrome caused by the ASXL3 gene mutation.

Background: Bainbridge-Ropers syndrome is an autosomal dominant disorder typically caused by a de novo pathogenic variant. As of November 2020, 33 such patients are known in the world. All patients are characterized by specific facial features. Bainbridge-Ropers syndrome is a described developmental disorder characterized by delayed psychomotor development, intellectual disability, generalized hypotonia, feeding difficulties, growth failure, dysmorphic facial features and minor skeletal features. Also most individuals with ASXL3-related disorder may have neurological manifestations are hand flapping, motor or vocal tics like in Tourette syndrome, hyperventilation episodes, bruxism, attention-deficit disorder, self-harm behaviors including self-biting, face scratching, and head banging.

Method: A 5 years old boy was presented with delayed psychomotor development, agitation. The boy at birth had diffuse hypotonia and severe feeding difficulties. At age 3 months he appeared vomited regularly, stopped gaining weight. His psychomotor development was significantly delayed. He has sleep disturbance and falls asleep after taking melatonin. The child does‘t speak at present, only vocalizes. He has facial dysmorphism – narrow face, epicanthus, posterior rotated auricles, thickened earlobe, his palate was high and narrow palate. We also observed a wrist with had ulnar flexion, contractures in the interphalangeal joints of the hand, marfanoid habitus, pes planus hypermobility of the joints. The child constantly makes stereotyped choreic movements, the head perioically tilts back tonically, arms are extended, there is constant vocalization, episodes of hyperventilation, bruxism.

Results: At the age of 8 months, brain MRI didn’t show any abnormalities except the cortical atrophy in the frontal and temporal regions. Whole-exome sequencing revealed a heterozygous mutation chr18:31320408G>A of the ASXL3 gene.

Conclusion: Taking into account the phenotypic features of our patient and the presence of a heterozygous mutation in the ASXL3 gene, we confirmed a diagnosis autosomal dominant ASXL3-related Bainbridge Ropers syndrome with choreodystonia, serious behavioral disorders, severe psychomotor retardation, alalia, constant vocalization. According to the literature, this is the first description if choreodystonia in a child with Bainbridge Ropers syndrome.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/a-case-of-bainbridge-ropers-syndrome-in-a-child/