Search

We report here the clinical diagnosis and treatment and genetic mutations of an infant with You-Hoover-Fong syndrome (YHFS). The relevant literature review was conducted. A female infant aged 17 months was admitted to Nanhai Affiliated Maternity and Children’s Hospital of Guangzhou University of Chinese Medicine due to “global development delay complicated with postnatal growth retardation for more than 1 year.” The infant was diagnosed with YHFS due to the onset of extremely severe mental retardation, microcephaly, abnormal hearing, severe protein–energy malnutrition, congenital cataract, cleft palate (I°), congenital atrial septal defect, brain atrophy, hydrocephalus, and brain hypoplasia. The whole exon sequencing revealed two compound heterozygous mutations, including a likely pathogenic TELO2 variant, c.2245A > T (p.K749X) from her mother and an uncertain variant, c.2299C > T (p.R767C) from her father, validated by Sanger sequencing. After bilateral cataract surgery, the infant obtained better visual acuity and showed more responses and interactions with her parents. Diagnosis and treatment of this case prompt that these TELO2 variants have not been reported, deepening the understanding of the molecular and genetic mechanism of YHFS in clinical practice.

Objective: To explore the genetic basis for a child with mental retardation., Methods: Whole exome sequencing was carried out for the child. Candidate variant was screened based on his clinical features and verified by Sanger sequencing., Results: The child was found to harbor a c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant in the SYNGAP1 gene. Bioinformatic analysis suggested it to be pathogenic. The same variant was not detected in either parent., Conclusion: The c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant of the SYNGAP1 gene probably underlay the mental retardation in this child. Above finding has expanded the spectrum of SYNGAP1 gene variants and provided a basis for the diagnosis and treatment for this child.

Objective: To explore the clinical efficacy differences of scalp acupuncture on brain injury in premature infants with different months of age., Methods: According to the corrected months of age, 90 cases of premature infants with brain injury were divided into a group A (3 through 6 corrected months of age), a group B (7 through 9 corrected months of age) and group C (10 through 12 corrected months of age), 30 patients in each one. Based on the conventional early intervention, the infants in the group A were treated with scalp acupuncture at Zhiqizhen , motor area; the infants in the group B were treated with scalp acupuncture at Zhiqizhen , motor area and foot motor sensory area; the infants in the group C were treated with scalp acupuncture at Zhiqizhen , motor area, foot motor sensory area and balance area. All the treatment was given once every other day, and totally 30 treatments were given. The Alberta infant motor scale (AIMS), development quotient (DQ) of each function indexes in Gesell developmental scale (GDS) were observed before and after treatment; the clinical efficacy of each group was compared and the correlation between clinical efficacy and months of age was analyzed., Results: Compared before treatment, the total score of AIMS and DQ of each function indexes of GDS were all improved in the three groups after treatment (all P <0.01). After treatment, the differences of total score of AIMS and DQ of each function indexes of GDS among the three groups were significant ( P <0.05, P <0.01), and the results in the group A were higher than those in the group B and the group C ( P <0.05, P <0.01). The total effective rate was 96.3% (26/27) in the group A, which was higher than 89.7% (26/29) in the group B and 83.3% (25/30) in the group C. The correlation analysis indicated less months of age was significantly corelated with better efficacy ( P <0.05)., Conclusion: Scalp acupuncture has superior improvement on the recovery of brain damage in premature infants, especially for those with 6 months of age or less.