Late-onset isolated sulfite oxidase deficiency: a case report and literature review / 中华实用儿科临床杂志

The clinical data of a case with late-onset isolated sulfite oxidase deficiency(ISOD)admitted in the Department of Neurology, Children′s Hospital, Zhejiang University School of Medicine in July 2021 were retrospectively analyzed.Fifteen previously published cases of late-onset ISOD were also reviewed.The patient was a girl, who was hospitalized because of " motor regression with mental retardation for 5 days" at 1 year old.The manifestations of the patient were extrapyramidal symptoms, regression of motor development and seizures.The level of urinary sulfites in the patient was increased.Magnetic resonance imaging (MRI) features were bilateral pallidus and substantia nigra.Gene sequencing suggested a pure missense mutation of the sulfite oxidase( SUOX) gene c. 650(exon5)G>A(p.Arg217Gln). In 16 cases of late-onset ISOD, the median age at onset and diagnosis was 10.5 months and 34.0 months, respectively.The common clinical manifestations were hypotonia (13 cases), seizures (10 cases), movement disorders (9 cases), and ectopia lentis (6 cases). The most common brain MRI feature was pallidus changes (11 cases), followed by lesions of substantia nigra (5 cases), and cerebral atrophy (4 cases). Fourteen cases of late-onset ISOD showed a positive urinary sulfite test.The missense mutation of the SUOX gene was found in 9 cases.It suggested that brain MRI involvement of bilateral pallidus, high excretion of urine sulfites and the missense mutation of the SUOX gene were important diagnostic clues for late-onset ISOD.

Risk analysis of vaccination in children with genetic epilepsy combined with febrile seizures plus / 中华神经医学杂志

Objective To assess the risk of vaccination in children with genetic epilepsy combined with febrile seizures plus (GEFS+).Methods Sixty-seven children with GEFS+,admitted to our hospital from May 2016 to May 2019,were enrolled in our study;using targeted second-generation sequencing technology,these patients were divided into positive SCN1A gene mutation group (SCN1A+group,n=l 1) and negative SCN1A gene mutation group (SCN1A-group,n=51) after kicking out 5 patients with other gene mutations.The frequencies of convulsion and changes of body temperature after vaccination were analyzed retrospectively in the two groups from birth to age of 7 years.The levels of interleukin (IL)-2,IL-6,IL-10 and tumor necrosis factor (TNF)-α in peripheral blood were measured by flow cytometry in both groups after seizures.Results Children from SCN1A+ group were vaccinated for 34 times,with incidence of post-vaccine convulsion reaching 47％ (16/34);children from SCN1A-group were vaccinated for 186 times,with incidence of post-vaccine convulsions reaching 6.45％ (12/186);incidence of post-vaccine convulsion was statistically significant between the two groups (P＜0.05).The mean body temperature in children from the SCN1A+ group ([38.06±0.57] ℃C) during convulsion was significantly lower than that in SCN1A-group ([39.49±0.49] ℃,P＜0.05).Expressions of IL-6 and IL-10 in peripheral blood after convulsion in children from SCN1A+ group (96.80±25.05 and 74.90±18.28) were significantly higher than those in SCN1A-group (72.97±4.81 and 43.99±10.63,P＜0.05).Conclusion GEFS+ children in the SCN1A+ group are more prone to convulsion after vaccination than those in the SCN1A-group;cytokines may be involved in the development of convulsion.

Clinical features of central nervous system demyelinating diseases with myelin-oligodendrocyte glycoprotein antibody positive in children / 中华实用儿科临床杂志

Objective:To investigate the clinical features and treatment effect of children with central nervous system demyelinating diseases and seropositivity to myelin-oligodendrocyte glycoprotein (MOG) antibody.Methods:The clinical characteristics of 28 had seropositivity to MOG among 115 children with central nervous system demyelinating diseases and who were hospitalized at Department of Neurology, Children′s Hospital of Zhejiang University School of Medicine from March 2017 to February 2019 were retrospectively analyzed.Results:Twenty-eight patients were included in this study, including 10 males and 18 females, with the ratio of male/female of 1.00∶1.80, and the median age of 7 years and 9 months.The clinical manifestations were diverse, including encephalopathy symptoms such as hea-dache, vomiting, and drowsiness (13/28 cases), vision loss (7/28 cases), spinal symptoms (6/28 cases), cerebellar symptoms such as ataxia, slurred speech (4/28 cases), convulsions (2/28 cases), and cranial nerve symptoms (1/28 cases). Among 24 cases who underwent CSF detection, 10 patients (41.7%) had slightly increased white blood cells, 2 patients (8.3%) had elevated protein, 6 patients (25.0%) had positive MOG antibody, and CSF-restricted oligoclonal band was negative in all 24 patients.Twenty-five cases (89.3%) showed brain magnetic resonance imaging (MRI) abnormalities, including cerebral white matter (20/28 cases), cerebellum (10/28 cases), cerebral gray matter (9/28 cases), thalamus/basal ganglia (6/28 cases), brainstem (6/28 cases), optic nerve (5/28 cases), and corpus callosum (4/28 cases). Of the 28 cases, 13 patients had spinal cord involvement, involving cervical spinal cord in 10 cases, thoracic cord in 9 cases and lumbar spinal cord in 5 cases; besides, 8 cases of them had long segmental spinal cord lesions with ≥ 3 segments.Fourteen patients received the visual evoked potentials′ examination, and the subclinical visual impairment was found in 2 of them with unobstructed clinical performance.All patients underwent high-dose Methylprednisolone therapy.The clinical symptoms of 16 patients who were treated with Gamma globulin were relieved in the acute phase.Seven patients had recurrence during the follow-up period, with the recurrence rate of 25.0%.Relapsed patients re-treated with high-dose Methylprednisolone therapy combined with Gamma globulin, clinical symptoms could be alleviated.Conclusion:The main clinical phenotype of children with central nervous system demyelinating diseases and seropositivity to MOG is acute disseminated encephalomyelitis.The spinal cord lesions are mainly involving cervical and thoracic segments.The current treatments of this disease include glucocorticoid and Gamma globulin, which have significant effect, but the disease is easy to relapse.The re-use of glucocorticoid and Gamma globulin after relapse is still effective.

Peroneal myoatrophy type 4H FGD4 new gene mutation in one case and literature review / 中华儿科杂志

<p><b>OBJECTIVE</b>To explore the clinical and gene mutation characteristics of children with peroneal myoatrophy FGD4 mutations.</p><p><b>METHOD</b>The clinical data of a patient with peroneal myoatrophy with novel FGD4 gene mutations were collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center for Biotechnology Information and PubMed (up to December 2014) by using search terms"muscular disorders, atrophic"peripheral nervous system diseases"genes". The clinical features and treatment of the patients with FGD4 gene mutations were studied.</p><p><b>RESULT</b>The patient was a 10-years-old boy, he was presented to our clinic due to lower extremity weakness for 3 years, worsening for one year with normal family history and birth history. When he was 6 years old, his feet turned inward as he walked, at 7 years of age, his toes pointed toward the ground, the heel could not touch the ground, the right foot was more serious. During the recent year his symptoms were worsened, manifested as clubfoot, foot drop, arched feet, crane legs, difficult in squatting, walking with swaying gait, easy to fall. He was brought to a number of domestic general hospitals' neurology clinic, he was clearly diagnosed as peroneal myoatrophy, but failed to make typing. Electromyography (EMG) showed neurogenic damage (peripheral neuropathy - motor and sensory fibers are involved). Target gene sequencing showed that the child had FGD4 genes compound heterozygous mutation: c. 338A> G and c. 1730G> A, where the former was inherited from his father, the latter inherited from his mother, it was a new mutation unreported previously. Literature search retrieved six reports (all in English literature) with FGD4 10 cases with mutations, which were expressed as peroneal myoatrophy, but were homozygous mutation.</p><p><b>CONCLUSION</b>This study found the FGD4 4th and the 14th exons' c. 338A> G and c. 1730G> A heterozygous mutations, and this mutations may lead to peroneal myoatrophy.</p>

Relationship between serum 25-hydroxy vitamin D and total IgE levels in children with recurrent pneumonia / 中国现代医生

Objective To study the relationship of serum 25-hydroxy vitaminD and total IgE levels in children with re-current Pneumonia but no underlying diseases. Methods Seventy-six children with recurrent pneumonia but no under-lying diseases and seventy-two children with single pneumonia who visited the hospital were divided into lob servation group. Sixty health examination children in child health clinic as a tontrol group. The levels of 25-hydroxy-vitamin D and total IgE were compared. Results Serum 25-hydroxy-vitamin D levels were significantly lower in the re current pneumonia group than those in a single pneumonia group and control group, the differences were statistically significant (P<0.05). Serum 25-hydroxy-vitamin D levels in the a single pneumonia group were lower than those in control group, but the difference were no statistically significant (P>0.05). Serum TIgE levels were significantly higher in the recurrent pneumonia group than those in the single pneumonia group and control group, the differences were statistically significant (P<0.05). Serum TIgE levels in single pneumonia and control, the differences were not statistically significant (P>0.05). Conclusion Vitamin D deficiency may be one of the factors for recurrent Pneumonia in children, attention should be paid in clinic to strengthen the prevention, diagnosis and treatment of vitamin D deficiency.