Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease.It is caused by mutations in the gene immunoglobulin μ-binding protein 2 which resides on chromosome 11 q13.3 and encodes the immunoglobulin μ-binding protein 2.This disorder is characterized by degeneration of anterior horn α-motoneurons and manifesting as irreversible diaphragmatic paralysis,respiratory distress associated with progressive symmetrical muscular weakness,distal lower limbs mainly involved,and muscle atrophy between the first 6 weeks and 6 months of life.Overall,SMARD1 is a poor-prognosis disease that artificial ventilation is needed for the whole life.

Objective To summarize the clinical experience of minimally invasive treatment (sclerosing therapy, intravascular intervention, laser coagulation, etc) for Klippel-Trenaunay syndrome (K-TS). Methods A total of 32 patients with K-TS were treated in this hospital from February 1989 to November 2004. Vascular embolization was used in patients with abnormal arteriovenous fistula or abnormal collateral arterial pathway. The insufficient valves of the deep veins were minimally invasively repaired. Laser coagulation was utilized for treating bulky varicosities. For angiomas and engorged venous plexus of the limbs, the sclerosing agent was injected. Results Varicosis, including reticular venous dilation, subsided completely. Angiography revealed an immediate disappearance of arteriovenous fistula and abnormal blood supply of the femur. The enlargement of involved limbs was diminished gradually. The angioma became completely sclerous, disappeared or decreased in size, without dwindling under pressure. In patients with venous valve reconstruction, Doppler ultrasonography showed no reflux. Follow-up for 1~7 years (mean, years) in all the 32 patients found no recurrence. Conclusions Minimally invasive treatment, including intravascular intervention, laser coagulation, sclerosing agent injection, mini-incision valve repair and so on, is effective for the management of Klippel-Trenaunay syndrome.

Objective In present study,we aimed to investigate the ictal and interictal electroencephalography (EEG) changes in patients with infantile convulsions with mild gastroenteritis,to understand the evolution of EEG and recurrence of convulsion by follow-up.Methods In this retrospective study,all patients with infantile convulsions with mild gastroenteritis visited our hospital from January 2005 to December 2009 were included,and were followed up for 3 to 7 years.All their clinical data were summarized and analyzed.Results Fist of all,we collected 128 interictal EEGs and 4 ictal (5 episodes) reports.Based on interictal EEGs,no discharge was observed in 63 subjects,and epileptic waves were discovered in other 65 patients.In most cases (48/65) epileptic waves were found to be located in the central area.For all 5 recorded ictal EEGs (2 were from same patient),epileptic waves were originated from different regions.Two months later,epileptic waves disappeared in 52/57 cases,but there were still discharge in 5 cases.Secondly,in the 103 cases who were successfully followed up,96 were seizure free,5 had recurrence during fever (3 cases) or gastroenteritis (2 cases),but remained seizure free for last 1.5 to 3.0 years.Overall,convulsion was recurred in 2 cases and finally diagnosed as epilepsy and then treated with antiepileptic drug,keeping seizure free for recent 1.5 to 2.5 years.Conclusion (1) Discharge can be found in nearly half of interictal EEGs in cases with infantile convulsion with mild gastrocnteritis,and most of them are located in central region.(2) All discharge come from local origin in ictal EEGs.(3) Seizure may recur in cases with infantile convulsion with mild gastroenteritis,especially in the presence of causative factors.Some children have risk of developing epilepsy.

Objective To explore the common pathogen of infantile convulsions associated with mild gastroenteritis, and to study the differences between the seizures caused by the two kinds of virus.Methods RT-PCR was used to detect Rotavirus (RV) and Norwalkvirus (NoV) in stool and cerebrospinal fluid of 30 cases with infantile convulsions associated with mild gastroenteritis. The differences between the frequency of seizures caused by two kinds of virus were analyzed by statistical methods (two-sample t-test).Results 17/30 (56. 7%) were RV-positive in stool and 3/17 (17. 7%) in cerebrospinal fluid; 6/30 (25.0%) were NoV-positive in stool and 1/6 (16. 7%) in cerebrospinal fluid. The seizure frequency with NoV infection was (4. 33 ± 1.75) times, and RV infection patients was (2. 53 ± 1.12) times (P ＜ 0. 01).The seizure frequency of CSF virus-positive children was (4. 75 ± 1.71) times compared to (2. 63 ± 1.21)times in virus-negative children (P ＜ 0.01). Conclusion The common pathogens causing infantile convulsions associated with mild gastroenteritis were RV and NoV. The degree of NoV infection affecting the central nervous system may be greater than RV. The presence of the virus in cerebrospinal fluid may lead to higher incidence of seizures,but their exact roles related to the occurrence of seizures remain to be further studied.

Objective To report the clinical,myopathological and genetic features of a patient with distal myopathy caused by caveolin-3 (CAV3) deficiency.Methods The patient was a 27-year-old female.She had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdle muscles were involved subsequently.Clinical data of this patient were collected.The leg muscle magnetic resonance imaging (MRI) and an open biopsy of left tibialis anterior muscle were performed.In addition to histological,enzyme histochemical staining and ultrastructural examination,immunohistochemical staining with antibody against CAV3 was done.CAV3 gene was analyzed in the patient and her parents.Results Tl-weighted enhanced skeletal muscle MRI of the lower limbs showed the abnormal signal in distal and proximal muscles.Muscle biopsy showed moderate dystrophic changes and immunostaining for CAV3 showed reduced plasmalemma in the muscle fibers.Gene analysis disclosed a heterozygous c.136G ＞ A (p.Ala46Thr)mutation in the CAV3 gene,and the patient's parents did not have this mutation.Conclusions We report a distal myopathy case caused by c.136G ＞ A (p.Ala46Thr) mutation in the CAV3 gene,who had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdal muscles were also involved.This would help clinical doctors to know more about this rare myopathy.

Objective To report the clinical, myopathological and genetic features of a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)/Leigh syndrome (LS) overlap syndrome who carried m.10158 T>C mutation. Methods The patient′s clinical and imaging materials were collected. An open biopsy of right biceps brachii was performed. DNA samples were prepared from the patient and her mother′s blood. Direct sequencing of the complete mitochondrial genome was performed to detect the mtDNA mutation.Western blotting was used to estimate the content of respiratory complexes in the patient′s muscle. Results The patient was a 40-year-old female. She had seizures and lost consciousness for 9 months. Brain MRI findings consisted of asymmetrical lesions in the cerebral cortex of the frontal and temporal lobes, as well as symmetrical lesions bilaterally in the basal ganglia. Muscle biopsy showed typical ragged red fibers. Direct sequencing of the complete mitochondrial genome from blood and muscle of the patient revealed the T-to-C transition at nucleotide position 10158 in the MT-ND3 gene.The mutation rate was 9.31% and 70.0%, respectively.Western blotting demonstrated that the contents of complexes Ⅰ and Ⅳ were significantly lower in the patient′s muscle mitochondria compared with the normal controls (53.1%±1.2% vs 88.6%±1.7%, t=4.08, P<0.05;57.3%±2.4% vs 80.1%±2.1%, t=3.39,P<0.05).Conclusion We reported a case of MELAS/LS overlap syndrome who carried m.10158 T>C mutation in MT-ND3 gene and DNA test is very important for the diagnosis of the disease.

ObjectiveThis clinical study is aimed to investigate whether levetiracetam (LEV) can improve electrocorticogram (EEG) in epileptic children epilepsy patients with better clinical manifestation but abnormal EEG findings.MethodsTotally 39 children from our neurological clinic with partial or complex partial epilepsy seizure were included in present study and assigned equally into three groups receiving different treatment:control group,sodium valproate (VPA) group,and LEV group.Their clinical symptoms had been controlled for over one year by carbamazepine ( CBZ),but EEG results showed clearly abnormal.Epileptiform discharges were observed in routine EEG exams half a month before recruiting.After recruiting,they continued to receive CBZ alone (control group) or co-treated with VPA ( VPA group) or LEV (LEVgroup),respectively.Six months later,EEG was taken again and results were analyzed.ResultsImprovement rate were 9.1％ ( control group),23.1％ ( VPA group),and 66.7％ (LEV group),respectively;Overall statistical difference was reached among three groups ( P＜0.01 ) and between control group and LEV group( P＜0.012 5 ),but no statistical difference between control group and VPA group was reached ( P＞0.0125).ConclusionCo-treatment of LEV in child epilepsy patients receiving CBZ can significantly decrease abnormal EEG discharge frequency during interictal period.

OBJECTIVE To describe the clinical features of the parapharyngeal space tumors and assess the postoperative complications and outcomes in our hospital.METHODS The clinical data of 135 cases with parapharyngeal space tumor treated from Jan.1995 to Dec.2005 in our hospital were retrospectively studied.RESULTS It included 24 heterogeneous histologies in this group.Neurogenic tumors(72.6 %) were the most common tumors,next were salivary gland tumors(15.6 %),and others 11.8 % tumors were miscellaneous tumors.There were 121(89.6 %) patients with benign lesions and 14(10.4 %) with malignant tumors.Transcervical approach was the most commonly applied route.Only 4 cases recurred in 113 operated benign patients.At end of the follow-up,of 14 patients with malignant tumors,4(28.6 %) were alive with no evidence of disease,5(35.7 %) were alive with disease,5(35.7 %) died of the diseases.CONCLUSION Primary parapharyngeal space neoplasms are rare and the majority of these tumors are benign.Surgery is the mainstay of treatment for parapharyngeal space tumors.Most benign cases with a low rate of complication and recurrence after operation,but malignant neoplasms have a poor prognosis.

Objective:To explore the clinical characteristics of intellectual developmental disorder with cardiac arrhythmia syndrome (IDDCA) in a family caused by GNB5 gene variation and to review the literature.Methods:The clinical and genetic data of an infant with IDDCA, who visited Shenzhen Children′s Hospital in September 2018, were collected and analyzed. His parents′ and brother′s gene analysis was also done by the next-generation sequencing and confirmed by Sanger sequencing. Related literature up to March 2020 was searched in Online Mendelian Inheritance in Man (OMIM), PubMed, CNKI and Wanfang databases with “GNB5” “IDDCA” “LADCI” “intellectual developmental disorder with cardial arrhythmia” “language delay and attention deficit-hyperactivity disorder or cognitive impairment with or without cardiac arrhythmia” as the key words. The related papers were retrieved and analyzed to summarize the clinical and genetic characteristics of this disorder.Results:The proband was an 11-month-old boy who presented with mental and motor developmental retardation, accompanied with convulsion and muscle weakness. Sinus arrest was also detected. His electroencephalogram (EEG) and flash visual evoked potential (FVEP) were both abnormal. Genetic analysis identified the homozygous frameshift variation of GNB5 gene (c.136delG, p.Glu46Argfs*8) in this infant and heterozygous variation in his parents, confirmed the diagnosis of IDDCA. The same GNB5 variation was identified in his brother, who was 4 years and 8 months old and had developed the similar clinical manifestations after birth. There were only 7 papers reporting this disease in the literature review, with a total of 27 patients from 14 families. Including these 2 cases, there were 29 patients in total, whose age of diagnosis ranged from 5.5 months to 23 years. Among all the patients, 20 cases (69%) were diagnosed as IDDCA, while 8 cases (28%) as LADCI; and 11 (38%) were males while 18 (62%) females. Regarding the clinical features, 66% (19/29) had mental retardation, 41% (12/29) had seizures, 79% (23/29) developed language delay and 62%（18/29） had sinus node dysfunction. Genetic tests showed that 4 patients from 3 families had complex heterozygous variation, and 25 patients (86%) from 12 families had homozygous variation. Seventeen patients from 8 families were consanguineous. Among the total 12 variations, there were 4 nonsense, 3 frameshift, 2 missense and 2 shear mutations, and 1 shear disorder caused by synonymous mutation.Conclusions:IDDCA caused by GNB5 gene variations mainly manifests as general developmental delay or severe mental retardation, and sinus node dysfunction. GNB5 associated syndromes have phenotypic heterogeneity and are inherited in an autosomal recessive manner.

OBJECTIVETo identify potential mutation of the GCH1 gene in a Chinese family affected with dopa-responsive dystonia.

METHODSGenomic DNA of patients was extracted from peripheral blood samples. The 6 exons of the GCH1 gene and at least 100 bp of flanking intronic sequences were amplified with PCR. Potential mutations were screened by direct sequencing. Identified mutation was verified with denaturing high performance liquid chromatography (DHPLC) in 100 healthy controls.

RESULTSAll patients were found to be heterozygous for a novel c.597delT (p.Ala200LeufsX5) deletion in the exon 5 of the GCH1 gene. The deletion of T has resulted in formation of a shorter (203 amino acids) truncated non-functional guanosine triphosphate cyclohydrolase I. The same mutation was not found in the 100 controls.

CONCLUSIONA novel GCH1 gene frameshifing mutation probably underlies the dopa-responsive dystonia in this Chinese family.

Adolescent ; Adult ; Base Sequence ; Child ; Dystonic Disorders ; enzymology ; genetics ; Exons ; Female ; Frameshift Mutation ; GTP Cyclohydrolase ; genetics ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Pedigree ; Young Adult