Abstract
Background Bryant-Li-Bhoj’s neurodevelopmental syndrome is an extremely rare neurodevelopmental disorder caused by germline variation of the H3-3A or H3-3B gene. Similar reports have not been found in China, and there are only two similar reports in the world.
Case presentation: A female child, full-term cesarean section, had intermittent convulsions and feeding difficulties shortly after birth. She had special facial features such as a small jaw, a narrow forehead, and a narrow palatal arch. The skin of the head and neck was loose and redundant. The muscle tone of the limbs was reduced, the primitive reflex was weakened, and hearing and vision were impaired. Genetic testing revealed a heterozygous missense mutation in the H3-3A gene, c.365C > G ( p.P122R ), which indicated the diagnosis of Bryant-Li-Bhoj neurodevelopmental syndrome type 1. The disease is extremely rare and has not been reported in China.
Conclusion: The prognosis and progression of Bryant-Li-Bhoj’s neurodevelopmental syndrome are still unknown. Early genetic testing can help make an early diagnosis and clarify the direction of diagnosis and treatment.