RESUMO
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.
RESUMO
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.
RESUMO
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.
