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Objective:To investigate the causes, diagnosis, treatment and prognosis of children with spinal cord injury without radiologic abnormality caused by non-severe violence, and to raise the awareness of spinal cord injury in children.Methods:Retrospective analysis was performed on the age of onset, injury mechanism, main clinical symptoms and occurrence time, treatment process and recovery of children with spinal cord injury without radiologic abnormality caused by non-severe violence. The children were admitted to our hospital from August 2015 to September 2020. Abnormal findings in spinal cord MRI in acute stage were analyzed, and long-term prognosis was followed up by telephone. The degree of spinal cord injury was determined according to the criteria established by the American Spinal Cord Injury Association.Results:Of six patients, three boys and three girls, aged from 16 months to 8 years old.Injury mechanism: fall on the bed, a sudden fall in standing position, fall while jumping in sports.All of the symptoms appeared immediately after trauma, such as limb weakness, pain, unable to walk, urination disorders.Treatment process: spinal immobilization, methylprednisolone pulse therapy[20 mg/(kg·d)], alleviat edema and protect the nerve system, necessary symptomatic treatment including urethral catheterization, the use of antibiotics, timely rehabilitation treatment.No fracture or dislocation was found in all six patients by spinal cord radiometric examination, and MRI of spinal cord indicated abnormal signals of thoracic cord or below. The recovery sequence of spinal cord function: urination function recovery, pain from lower limbs relief, lower limbs weakness improvement.By the time of follow-up by telephone, the course of disease was 1 to 5 years. Urine fecal incontinence was found in one patient, and his muscle strength of both lower extremities belong to grade Ⅰ, atrophic changes were found in spinal cord MRI.The remaining five patients were able to walk independently, complained of leg pain during long distance walking, mild varus or valgus, and no obvious abnormality in spinal cord MRI.Conclusion:In daily activities, except bend down in dancing, falling on the sacral tail is easy to cause spinal cord injury without fracture and dislocation in children. The damaged spinal cord function often cannot recover thoroughly, and even cannot recover. It is advisable to identify early, formulate comprehensive treatment measures in time, strive to improve the prognosis.
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Objective:To investigate the clinical characteristics and genotypes of neurodevelopmental disorders of microcephaly-epilepsy-cortical atrophy caused by VARS1 gene mutation.Methods:The clinical data of a child with VARS1 gene mutation who visited Anhui Children′s Hospital in December 2021 were reviewed and followed up. Using "VARS1" "VARS" "VALYL-tRNA synthetase" "Valyl-tRNA synthetase" as the search terms, the Chinese data bases (China National Knowledge Infrastructure database, Wanfang database) and PubMed database (the database establishment until 2022). Articles related to genetic diseases were searched and clinical phenotypes and genotypes were summarized.Results:This case was a 3-month-old girl. After birth, she suffered from repeated convulsions and feeding difficulties, and gradually developed microcephaly, hypotonia, and overall developmental delay. Brain imaging showed cortical atrophy, corpus callosum dysplasia, and craniosynostosis. The results of whole exome sequencing indicated a new homozygous gene mutation in VARS1: gene mutation in exon 27 of chromosome 6 c.3203C>T(p.Thr1068 Met), which was from the patient 's parents. She took phenobarbital, levetiracetam, and sodium valproate for anti-epileptic treatment regularly, and then convulsed as a seizure every few days. A total of 19 patients were reported in 5 literatures that met the search criteria, all of whom presented with neurodevelopmental disorders. A total of 20 VARS1 gene mutation sites have been found so far. Conclusions:Neurodevelopmental disorders of microcephaly-epilepsy-cortical atrophy should be considered for children with neurodevelopmental disorders such as microcephaly, epilepsy, developmental delay, and cortical atrophy. Gene sequencing plays an important role in the diagnosis of the disease.
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Christianson syndrome is a rare X-linked disease caused by mutations in the SLC9A6 gene. The clinical manifestations are male developmental delay, language disorder, seizures, mental retardation, ataxia, microcephaly and so on. Two cases of male children with Christianson syndrome were reported. The proband was 1 year and 11 months old. Clinical manifestations include microcephaly, global developmental delay, and seizures. The electroencephalogram showed that the central midline region of spikes and slow waves were emitted, and all exons sequencing detected a mutation in the SLC9A6 gene chrX: 135084373 [c.803+1(IVS6)G>A]. The proband′s brother was 4 years and 8 months old. The clinical manifestations were similar. The electroencephalogram showed spikes and spines in the Rolandic area on both sides. Slow waves and spiny slow waves were emitted. Magnetic resonance imaging suggested brain atrophy. The genetic verification results were consistent with the proband. The SLC9A6 gene c.803+1(IVS6) G>A splicing mutation was a pathogenic mutation in this family.
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Clinical data of a case of 4H syndrome admitted to the Department of Neurology, Anhui Children′s Hospital in January 2019 were retrospectively analyzed.The male patient with 2 years and 7 months old had clinical manifestations of motor and mental retardation, unstable gait, and abnormal tooth development.Head magnetic resonance imaging revealed abnormal brain white matter development.Family-wide exon detection revealed compound heterozygous mutations of the POLR3 A gene, c.3858C>A (exon29) and c. 3226G>A (exon24), which were newly detected pathogenic mutations.It is suggested that 4H syndrome should be considered in children with early developmental retardation, abnormal tooth development, and abnormal white matter.
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Objective To compare the sedation and anti-inflammatory effects of dexmedetomidine and midazolam on critical ill children with multiple trauma. Methods A prospective randomized controlled trial was conducted. Sixty-five critical ill children with multiple trauma admitted to pediatric intensive care unit (PICU) of Anhui Province Children's Hospital from January 2014 to September 2016 were enrolled, who were randomly divided into dexmedetomidine group (33 cases) and midazolam group (32 cases). Children of both groups received sufentanil for analgesia. Children in dexmedetomidine group firstly received 1.0 μg/kg intravenous bolus of dexmedetomidine for 10 minutes, then continuous infusion of 0.2-0.7 μg·kg-1·h-1, while in midazolam group children received 1-5 μg·kg-1·min-1 of midazolam in continuous infusion. The goal of sedation was to maintain a Richmond agitation-sedation scale (RASS) score of -1 to 0. The level of serum interleukin (IL-6, IL-8, IL-10, IL-1β), tumor necrosis factor-α (TNF-α) and C-reactive protein (CRP) were detected by enzyme linked immunosorbent assay (ELISA) at 24, 48, 72 hours after treatment, and the duration of mechanical ventilation, ratio of continuous renal replacement therapy (CRRT), length of stay in the PICU, ratio of sepsis and multiple organ failure (MOF) and mortality were also recorded. Results Compared with midazolam, dexmedetomidine decreased the level of pro-inflammatory cytokines and increased the level of anti-inflammatory cytokines. At 24 hours after treatment, the levels of serum IL-1β, TNF-α significantly decreased and IL-10 significantly increased [IL-1β (ng/L):6.48±2.89 vs. 8.07±3.14, TNF-α (μg/L): 11.25±5.21 vs. 15.44±5.97, IL-10 (ng/L): 12.10±5.35 vs. 9.58±4.71, all P 0.05). Conclusion Compared with midazolam, dexmedetomidine had better efficacy in the treatment of severe multiple trauma in children and reduce the level of inflammation.