Retrospective study of multi-system involvement in children′s Wilson disease / 中华实用儿科临床杂志

Objective@#To discuss the multiple system involvement and cranial magnetic resonance imaging(MRI) manifestations of Wilson disease(WD) in children.@*Methods@#This study was conducted on hospitalized children who were diagnosed as WD at the Department of Pediatrics, Peking University First Hospital during January 2001 to December 2017, and their clinical data were reviewed.@*Results@#Sixty-five children were enrolled, among whom 28 cases were of neurological type, while 37 cases were of non-neurological type.The average onset age of neurological type was 11.0 years old, while non-neurological type was 8.1 years old(t=3.328, P=0.001). Seventy-six point nine percent children had at least 2 systems involved, among which the liver and the brain were the most commonly involved, while the involvement in the urinary and the blood systems were not scarce(55.4% and 33.8%, respectively). Among K-F ring, ceruloplasmin and 24-hour urinary copper excretion, 17.2% of the cases had 2 of the three items normal, and 13.8% had 1 item normal.K-F ring positive could be seen in all neurological type, while the positive rate was 57.6% in non-neurological type, and the difference was statistically significant(χ2=13.981, P<0.001). The average age of K-F ring positive patients was(11.8±2.7)years old, while it was (7.6±3.7)years old in K-F ring negative patients, and the difference was statistically significant(t=4.221, P<0.001). There was no statistic diffe-rence in 24- hour urinary copper excretion between neurologic and non-neurologic type(t=0.024, P=0.981). The most common neurologic symptoms included dysarthria, tremor, drooling/swallowing/chewing problems, abnormal postures, etc.Basal ganglia, white matter involvement, brain atrophy and ventricle enlargement in cranial MRI could all be seen in both types, and basal ganglia was the most commonly involved site, but the thalamus and the brain stem could only be seen in neurologic type.Among 30 patients with abnormal cranial MRI patients, the earliest onset age of basal ganglia, ventricle enlargement, brain atrophy, and white matter involvement were all at 8 years old, while the earliest onset age of the thalamus and the brain stem involvement was at 12 years old.The longer the course of neurological symptoms, the more involvement could be found in the thalamus and the brain stem.@*Conclusions@#WD always present with multi-systems involvement, with a variety of clinical manifestations.One or two normal characters among K-F ring, ceruloplasmin and 24-hour urinary copper excretion could not exclude WD.Cranial MRI abnormalities could present earlier than neurological symptoms.Basal ganglia was the most commonly involved, while the thalamus and the brain stem were involved later, mostly in their adolescents.

Retrospective study of multi＿system involvement in children′s Wilson disease / 中华实用儿科临床杂志

Objective To discuss the multiple system involvement and cranial magnetic resonance imaging (MRI)manifestations of Wilson disease(WD)in children. Methods This study was conducted on hospitalized chil-dren who were diagnosed as WD at the Department of Pediatrics,Peking University First Hospital during January 2001 to December 2017,and their clinical data were reviewed. Results Sixty-five children were enrolled,among whom 28 cases were of neurological type,while 37 cases were of non-neurological type. The average onset age of neurological type was 11. 0 years old,while non-neurological type was 8. 1 years old(t=3. 328,P=0. 001). Seventy-six point nine percent children had at least 2 systems involved,among which the liver and the brain were the most commonly in-volved,while the involvement in the urinary and the blood systems were not scarce(55. 4% and 33. 8% ,respectively). Among K-F ring,ceruloplasmin and 24-hour urinary copper excretion,17. 2% of the cases had 2 of the three items normal,and 13. 8% had 1 item normal. K-F ring positive could be seen in all neurological type,while the positive rate was 57. 6% in non-neurological type,and the difference was statistically significant(χ2 =13. 981,P<0. 001). The average age of K-F ring positive patients was(11. 8 ± 2. 7)years old,while it was(7. 6 ± 3. 7)years old in K-F ring negative patients,and the difference was statistically significant(t=4. 221,P<0. 001). There was no statistic diffe-rence in 24- hour urinary copper excretion between neurologic and non-neurologic typ(e t=0. 024,P=0. 981). The most common neurologic symptoms included dysarthria,tremor,drooling/swallowing/chewing problems,abnormal pos-tures,etc. Basal ganglia,white matter involvement,brain atrophy and ventricle enlargement in cranial MRI could all be seen in both types,and basal ganglia was the most commonly involved site,but the thalamus and the brain stem could only be seen in neurologic type. Among 30 patients with abnormal cranial MRI patients,the earliest onset age of basal ganglia,ventricle enlargement,brain atrophy,and white matter involvement were all at 8 years old,while the earliest on-set age of the thalamus and the brain stem involvement was at 12 years old. The longer the course of neurological symp-toms,the more involvement could be found in the thalamus and the brain stem. Conclusions WD always present with multi-systems involvement,with a variety of clinical manifestations. One or two normal characters among K-F ring, ceruloplasmin and 24-hour urinary copper excretion could not exclude WD. Cranial MRI abnormalities could present earlier than neurological symptoms. Basal ganglia was the most commonly involved,while the thalamus and the brain stem were involved later,mostly in their adolescents.

Early assessments of brain injury in preterm infants / 国际儿科学杂志

Improvements in prenatal and neonatal intensive care have raised the premature infants survival rate.Meanwhile,the incidence of premature brain injury is also increased.White matter iniury is one of the most common diseases of brain injury in premature infants and often leads to neurodevelopment delays and cognitive impairment.Early diagnosis and treatment of brain injury in preterm infants are important to improve their quality of life.Recent studies have shown that early detection of brain injure is benefited from some monitoring methods,including the electrophysiology,imaging,biochemical markers and cerebral oxygen metabolism of premature infants.

Speech disorders and their relationships with abnormal cranial magnetic resonance imaging findings in children with cerebral palsy / 中华物理医学与康复杂志

Objective To investigate the clinical characteristics of speech disorders in children with cerebral palsy (CP) and any relationship between those characteristics and cranial magnetic resonance images.Methods A sample of 138 children with CP were given the ＜ s-s ＞ language development test,a Chinese-language articulation test and oral motor scores to quantify their functional speech and articulation.The characteristics of their speech disorders,articulation and oral motor dysfunction were then related with abnormalities in their cranial magnetic resonance images (MRIs).Results Of the 138 MRIs,only 9 were normal.Three showed non-specific abnormalities (delayed myelination and/or broadening of the space outside the brain) and 122 (91％) showed specific abnormalities.Among the children with specific abnormalities,51.6％ had speech reception delay and 74.6％ had speech expression delays.The dysarthria rate was 71.3％,including 8.7％ with no speech ability at all.The main MRI abnormalities were lesions of the basal ganglia (23％),lesions of the cerebellum (11.5％),periventricular leukomalacia (PVL) (47.5％),extensive cortical or subcortical lesions (6.6％) and focal cerebral injury (11.5 ％).The corresponding oral motor scores increased successively.The children with lesions of the basal ganglia or cerebellum were most likely to manifest speech expression delay and dysarthria.The children with cortical or subcortical lesions or PVL also showed speech expression delay and dysarthria.However,the children who had a focal cerebral injury generally performed well on the speech ability assessment.Twelve children had no speaking ability at all,and in 7 of them the lesions were of the basal ganglia.Conclusions The probability and severity of speech disorders in children with cerebral palsy relate with specific abnormalities detectable with cranial MRI.Those with lesions of the basal ganglia or cerebellum will be more likely to show more severe speech disorders.