Progressive psychomotor regression for 2.5 years in a boy aged 5 years / 中国当代儿科杂志

A boy, aged 5 years, attended the hospital due to progressive psychomotor regression for 2.5 years. Motor function regression was the main manifestation in the early stage, and brain MRI and whole-exome sequencing (WES) of the family showed no abnormalities. After the age of 4 years and 9 months, the boy developed cognitive function regression, and brain MRI showed cerebellar atrophy. The reanalysis of WES results revealed a compound heterozygous mutation, [NM_000520, c.784C>T(p.His262Tyr]), c.1412C>T(p.Pro471Leu)], in the HEXA gene. The enzyme activity detection showed a significant reduction in the level of β-hexosaminidase encoded by this gene. The boy was diagnosed with juvenile Tay-Sachs disease (TSD). TSD has strong clinical heterogeneity, and cerebellar atrophy may be an important clue for the diagnosis of juvenile TSD. The reanalysis of genetic data when appropriate based on disease evolution may improve the positive rate of WES.

Fever for 2 months and disturbance of consciousness for 1 week in a preschool-aged girl / 中国当代儿科杂志

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome (ROHHADS) is a rare multi-system disease, and delayed diagnosis and treatment may lead to catastrophic cardiopulmonary complications. As far as we know, no patient with ROHHADS has been reported in China, and this article reports a child with ROHHADS to improve the awareness of this disease among clinicians. A girl, aged 3 years, had the clinical manifestations of rapid weight gain, fever, disturbance of consciousness, and convulsion. The physical examination showed a body weight of 20 kg, somnolence, irregular breathing, and stiff neck. She had increased blood levels of prolactin and follicle-stimulating hormone and hyponatremia. The lumbar puncture showed an increased intracranial pressure. The brain MRI and magnetic resonance venography showed symmetrical lesions in the periventricular region and venous thrombosis in the right transverse sinus and the superior sagittal sinus. The sleep monitoring showed hypopnea. The girl was finally diagnosed with ROHHADS and intracranial venous thrombosis. She recovered after symptomatic treatment including decreasing intracranial pressure, anticoagulation, and respiratory support. The possibility of ROHHADS should be considered for patients with unexplained obesity, fever, and hypoventilation, with or without central nervous system symptoms. Early diagnosis and standardized follow-up can improve the prognosis of children with ROHHADS.

One Case of Buzhong Yiqi Decoction Adding Gardeniae Fructus for Treatment of Acute Suppurative Otitis Media / 中国中医药信息杂志

The article mainly discussed the method and prescription of Buzhong Yiqi Decoction adding Gardeniae Fructus for the treatment of acute suppurative otitis media. The author summarized the pharmacological effects, clinical efficacy and application of Buzhong Yiqi Decoction by searching relevant literature,and proposed that weak spleen and stomach and imbalance of yin and yang are the pathogenesis in clinic,which can be treated with Buzhong Yi q i Decoction.

Hypertension and intermittent convulsions for one month in a school-age child / 中国当代儿科杂志

Childhood polyarteritis nodosa (PAN) is a rare systemic vasculitis and the delayed diagnosis and treatment will cause high incidence of sequelae and high mortality. This article reports a girl with childhood PAN due to posterior reversible encephalopathy syndrome (PRES). The girl aged ten years was admitted to the hospital due to hypertension and convulsions for one month. She had complaints of headache, vomiting, and blurred vision before convulsions. At six months before admission, a mass was observed in the neck. The physical examination showed that she had hypertension and no abnormal findings in the central nervous system. The brain magnetic resonance imaging manifested long T1 and T2 signals, high signal intensities on fluid-attenuated inversion recovery (FLAIR) images, and iso-signal intensity on diffusion-weighted imaging in the white matter of the left occipital lobe. Therefore, the cause of convulsions was considered as PRES. Mass biopsy suggested PAN and no findings supported tuberculosis. The right kidney atrophy was observed by ultrasound examination. Emission computed tomography of the kidney showed multiple vascular stenosis and no blood perfusion in the right kidney, so PAN was confirmed. These findings suggest that PAN should be considered in patients with vasculitis who had involvements of multiple systems after excluding common vasculitis, such as Kawasaki disease and Henoch-Schönlein purpura. Biopsy and angiography should be performed as early as possible for timely diagnosis and treatment.

Clinical and electroencephalographic features in children with benign occipital epilepsy / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study and compare the clinical and electroencephalography (EEG) features in children with benign occipital epilepsy (BOE) of Gastaut and Panayiotopoulos types.</p><p><b>METHODS</b>The clinical data of 23 children with BOE (16 Gastaut type and 7 Panayiotopoulos type) were retrospectively studied.</p><p><b>RESULTS</b>The mean age of onset in the Panayiotopoulos and Gastaut groups were 4.5 and 9.1 years, respectively. The children in the Panayiotopoulos group were characterized by ictal vomiting, frequent deviation of eyes and head, frequent nocturnal seizures, and secondary generalized seizures with longer duration but less frequency. By comparison, the children in the Gastaut group were characterized by visual symptoms as ictal events, higher seizure frequency, shorter seizure duration and more frequent diurnal seizures. The EEG showed that the majority of both groups had occipital spike-wave discharges when the eyes were opened. Eleven children in the Panayiotopoulos group and all of 7 children in the Gastaut group received antiepileptic mono-drug therapy. All of the 11 children in the Panayiotopoulos group responded to the therapy, but 2 cases in the Gastaut group did not respond and 2 cases had subtle cognitive deficits.</p><p><b>CONCLUSIONS</b>There are differences in the age of onset, clinical symptoms, seizure frequency and duration, and therapeutic responses between children with Panayiotopoulos and Gastaut type BOE.</p>

A comparative study of conventional dose and low dose adrenocorticotrophic hormone therapy for West syndrome / 中国当代儿科杂志

<p><b>OBJECTIVE</b>The efficacy and adverse effects of conventional dose and low dose adrenocorticotrophic hormone (ACTH) therapy for West syndrome (WS) were compared in order to identify a low effective dose with few adverse effects.</p><p><b>METHODS</b>A prospective randomized controlled study was conducted. Thirty children with cryptogenic (n=8) or symptomatic (n=22) WS were enrolled. They were randomly assigned to receive either conventional dose or low dose ACTH therapy. For the conventional dose group, ACTH 50 IU per day was administered for 2 weeks and tapered to zero over the subsequent 2 weeks. For the low dose group, 0.4 IU/kg per day was injected for 2 weeks. After seizures were fully controlled, ACTH was tapered to zero over the subsequent 2 weeks. If there was an absence of an effective response in the low dose group, the dosage was increased to 1 IU/kg per day for the next 2 weeks and then tapered to zero over 2 weeks. Both effectiveness and adverse effects were compared between the two groups.</p><p><b>RESULTS</b>There were no significant differences in the good initial responses between the conventional and the low dose groups, which were 53% and 60%, respectively (P> 0.05). EEG findings after ACTH therapy, the rate of relapse of spasms, and the interval to relapse were not different between the two groups (P> 0.05). The long-term outcomes were assessed in the initial 8 responders, and there were no significant differences between the two groups (follow-up duration>12 months). The rates of good efficacy and disappearance of the hypsarrhythmia were significantly higher in the cryptogenic WS group than in the symptomatic WS group (P<0.05). The incidence of ACTH therapy related-adverse effects in the conventional dose group (93%) was significantly higher than in the low dose group (20%) (P<0.01). The mild brain shrinkage was observed in one patient from the conventional dose group.</p><p><b>CONCLUSIONS</b>The short-term and long-term therapeutic effects of ACTH between 50 IU/d and 0.4 IU/kg/d doses are similar. ACTH therapy is more effective for cryptogenic WS than symptomatic WS. To reduce adverse effects, ACTH therapy should start with a low dose (0.4 IU/ kg each day).</p>

Comparative study on the role of parent Campylobacter jejuni and galE mutant in inducing experimental peripheral nerve damage / 中华儿科杂志

<p><b>OBJECTIVE</b>A comparative study on the role of Campylobacter jejuni (CJ) HB9313 and galE mutant in inducing experimental sciatic nerve damage was conducted in guinea pigs in order to explore whether CJ lipo-oligosaccharide (LOS) is critical component associated with peripheral nerve lesions and find experimental evidence for the presumption of molecular mimicry on the pathogenesis of Guillain-Barre syndromes (GBS) with CJ antecedent infection.</p><p><b>METHODS</b>A total of 32 guinea pigs were randomly divided into four groups: parental strain group (n = 10), galE mutant group (n = 10), control group (n = 6) and PBS group (n = 6), and immunized with the whole cell antigens of CJ HB9313 with Freund's adjuvant (FA), the whole cell antigens of galE mutant (without ganglioside-like structure) with FA, PBS with FA, and PBS alone, respectively. Enzyme-linked immunosorbent assay (ELISA) was employed to detect anti-LOS and anti-ganglioside GM1 antibodies in sera of these animals, and comparative morphologic studies of pathologic changes were carried out on the sciatic nerves, including examination of teasing fibers, examination of semithin sections made from epon-embedded tissue blocks under light microscope and transmission electron microscope.</p><p><b>RESULTS</b>ELISA results indicated that after immunization, the levels of anti-LOS IgG antibody were significantly elevated in animals from parental strain group and galE mutant group as compared with those before immunization (P < 0.01). No statistically significant difference was found between the two groups. However, the mean optical densities (ODs) of IgG antibody against GM1 at 14 and 28 day after immunization, in parental strain group, were 0.661 +/- 0.290 and 0.984 +/- 0.025, respectively, significantly higher than those of galE mutant group, which were 0.193 +/- 0.078 and 0.180 +/- 0.063 (P < 0.01). The results of morphologic examination on sciatic nerves showed that for teased-fiber study, incidence of pathologic abnormalities of teased fibers from animals of galE mutant group was 4.9% (98/2000), significantly lower than that from parental strain group, which was 16% (320/2000), characterized by predominantly axonal degeneration. The difference between them was highly significant statistically (P < 0.01). Examination of semithin sections of sciatic nerves also revealed that obvious pathological changes occurred in the animals from parental strain group, while only minimal abnormalities could be seen from galE mutant group, there was a significant differences between them (P < 0.01). In parental strains group, the predominant pathologicanl change was axonal degeneration with considerable variation in severity. These morphologic changes were confirmed by electron microscopy.</p><p><b>CONCLUSION</b>Compared with parental strain, galE mutant without ganglioside-like structure no longer could induce anti-GM1 antibodies, nor induce obvious immune damage of peripheral nerves in experimental guinea pigs. The results of this study provide a strong support to the hypothesis of molecular mimicry as a pathogenesis in patients with GBS following CJ antecedent infection.</p>

Critical Antigenic Structure in Inducing Immune Damage of Peripheral Nerve Following Campylobacter Jejuni Infection / 实用儿科临床杂志

0.05).3.Thirty-three point three percent of animals from parental strain group were found fibrillations potentials and the po-sitive sharp waves in gastrocnemius electromyogram,no obvious abnormal waves were found in animals from both waaF mutant and control group.Conclusions The ganglioside-like epitope in LOS of CJ is critical antigen in inducing GM1-IgG antibody and in inducing conduction block of peripheral nerve,therefore,provide a support for the molecular mimicry theory as a pathogenesis in the axonal GBS following CJ infection.

Relationship of kawasaki disease and human parvovirus B19 infection / 实用儿科临床杂志

0.05 ).But the difference of positive ratio between 1-year-old group was significant in 6 cases of B19 DNA positive (P0.05).Conclusion There are no markedly association between kawasaki disease and human parvovirus B19 infection.

Relationship between Clinical Neuro-Electrophysiology and Prognosis in Children with Guillain-Barr? Syndrome / 实用儿科临床杂志

ObjectiveTo explore the relationship between the changes of neuro-electrophysiology and prognosis in children with Guillain-Barr? syndrome(GBS).MethodsThirty-eight children with GBS were divided into group A(rapid recovery,n=16) and group B(slow recovery,n=22) according to the time required for podosoma motor function recovery,at the same time,they were divided into the better prognosis group(n=22) and the worse prognosis group(n=16),for analyzing the difference between group A and B in terms of age,preceding infections,maximal Hughes grades and neuro-electrophysiology including motor conduction velocity(MCV),distal complex muscle action potential(dCMAP) and F wave,and investigating the related factors with the prognosis of GBS.Results1.MCV of tibial nerve was(40.2?2.53) m/s and(33.4?2.46) m/s in group A and group B,respectively;MCV of peroneal nerve was(45.2?3.23) m/s and(38.3?2.16) m/s in group A and group B,respectively,and the difference between group A and group B was significant(Pa0.05);abnormal rate of F wave(68.42%) was higher than abnormal rate of MCV(42.11%) and dCMAP(42.11%)(Pa

Clinical Characteristics and Diagnosis of Hemiconvulsion-Hemiplegia-Epilepsy Syndrome / 实用儿科临床杂志

Objective To summarize the clinical characteristics and diagnosis of hemiconvulsion-hemiplegia-epilepsy(HHE) syndrome.Methods The clinical data of 5 children with HHE syndrome were analyzed.Cranial magnetic resonance imaging MRI and /or computerized tomography(CT) and electroencephalogram(EEG) were done in all patients.Results The age of onset was less than 4 years in 4 of 5 patients and initial seizures were associated with fever in 3 cases.The longest duration of convulsive seizures lasted more than 2 hours in all cases,followed by the appearance of hemiplegia involving the side of the body where the convulsions were localized.Subsequent epilepsy developed within 2 years of the hemiplegia in all 5 cases,with 4 cases simple partial seizure and 1 case psychomotor seizures.All cases had mental retardation.Cranial MRI showed left hippocampal sclerosis in 4 patients and CT brain scan showed right cerebral hemiatrophy in 1 case.The EEG showed abnormality in all patients.Epileptiform discharges were found in 4 cases,and the damage hemisphere showed slowing and low voltage of background activity in 1 case.All cases received mainly carbamazepine therapy,and the seizures were satisfactorily controlled or partly controlled.Conclusions HHE syndrome is recognized as hemiplegia-epilepsy syndrome after prolonged hemiconvulsion.The hippocampal sclerosis may be the consequence of repeated seizures,but not the cause.Better understanding of the syndrome,early and adequate treatment of prolonged seizures,especially of febrile convulsion,will reduce the incidence of HHE syndrome.