[GAO Wei-bin's clinical experience in treatment of medulla oblongata paralysis with nape acupuncture].

This paper introduces GAO Wei-bin's academic thought in treatment of medulla oblongata paralysis with acupuncture. Through analyzing the etiologies and locations of medulla oblongata paralysis, in accordance with "selecting the nearby acupoints of the affected area", the acupoints are selected from the nape region, the nape acupuncture therapy and the corresponding new points are developed. Based on the human anatomy of the nape region, the anatomic structures of new points (e.g. Gongxue, Tunyan-1, Tunyan-2, Fayin, Zhiqiang and Tiyan) and their effect mechanism are explained. The treatment principle, "distinguishing the symptoms from the root causes, mutual treatment for both symptoms and root causes", is proposed, and the importance of electric stimulation of nape acupuncture is suggested in treatment of medulla oblongata paralysis.

Isolated bulbar palsy and dysphagia in children with respiratory symptoms.

Oropharyngeal dysphagia can cause chronic aspiration leading to significant respiratory symptoms. When dysphagia is diagnosed, an underlying cause is sought. We present a case series of 15 children diagnosed aged 6 months to 5 years (mean 2y 5mo; 11 males, four females) over a 6-year period, who were found to have an isolated bulbar palsy on genioglossus electromyography, with no accompanying neurological or neurodevelopmental disorder. Eight children had dysphagia but a normal EMG. In those with isolated bulbar palsy, management included thickened fluids (n=13), cooled boiled water (n=1), and nasogastric tube feeding (n=1). Follow-up over 1 to 8 years (mean 5y) showed complete resolution in six children, improvement in four children, and no improvement in five children (including two requiring fluids via a gastrostomy). Eight children no longer had any respiratory symptoms. Isolated bulbar palsy is under-recognized and has not been reported previously as a cause of significant dysphagia in children.

[Acupuncture at pharyngeal acupoints for true bulbar paralysis after cerebral infarction: a randomized controlled trial].

OBJECTIVE: To compare the clinical effect of acupuncture at the affected side and both sides of the pharyngeal acupoints for true bulbar paralysis after cerebral infarction. METHODS: A total of 66 patients with true bulbar paralysis after cerebral infarction were randomly divided into an unilateral group and a bilateral group, 33 cases in each group, 1 case dropped off in each group at last. On the basis of conventional drugs and electro-nape-acupuncture treatment, the patients in the unilateral group were treated with acupuncture at the affected side's Tunyan, Fayin and Zhifanliu (Extra), while patients in the bilateral group were treated with acupuncture at the both sides' Tunyan, Fayin and Zhifanliu. The treatment was performed once a day, 6 days a week, and the clinical effect was assessed after 21-day therapy. The swallowing and vocalization of the two groups were evaluated by dysphagia grading scale, Kubota water swallowing test and GRBAS grading scale before and after treatment. RESULTS: After 21 days of treatment, the scores of the dysphagia grading scale in the two groups were both improved (P<0.01), and the unilateral group was superior to the bilateral group (P<0.01). The GRBAS grading scale and Kubota water swallowing test grading after treatment were improved in both groups (P<0.01), and the unilateral group was superior to the bilateral group (P<0.05, P<0.01). CONCLUSION: Acupuncture at the pharyngeal acupoints of the affected side achieves much better therapeutic effect on true bulbar paralysis as compared with the acupoints of the bilateral sides.

Cardiopulmonary failure as a result of brainstem encephalitis caused by enterovirus D68.

Enterovirus D68 (EV-D68) causes respiratory illnesses such as pneumonia, and has been reported to cause acute flaccid myelitis. Enterovirus A71 (EV-A71) is known to cause cardiopulmonary failure due to brainstem encephalitis, but there have been few reports of these conditions being associated with EV-D68. Outbreaks of EV-D68 infection have occurred in the USA, Canada, Europe and Asia. Clinical management is largely supportive and there are no specific antivirals available. The case patient, a 4-year-old girl, had cardiopulmonary failure due to brainstem encephalitis. EV-D68 was isolated from a throat swab. On admission, she had cardiopulmonary failure, which required intensive care using a ventilator and inotropic agents. Her cardiac function improved, but she had residual bulbar paralysis and limb weakness, which resolved over a 6-month period. This case confirms that EV-D68, may cause severe illness due to brainstem encephalitis, similar to that caused by EV-A71.

Hypophonia as only presenting symptom in myasthenia gravis - a diagnostic dilemma in poor countries: a case report.

INTRODUCTION: The autoimmune disease myasthenia gravis can mimic a variety of neurological disorders leading to a delay in diagnosis and treatment. In the older population, due to confusion with signs of the ageing process or comorbidities due to ageing, there are many underdiagnosed or misdiagnosed cases of myasthenia gravis. A majority of myasthenia gravis symptoms appear as ocular or motor symptoms and there are very few cases of bulbar symptoms. We present a case of myasthenia gravis with only hypophonia as a clinical feature. CASE PRESENTATION: We present a case of a 51-year-old Madheshi woman whose only complaint was sudden onset of hypophonia which later showed a fluctuating nature throughout the daytime. There was only reduced pitch in her voice with no nasal tone or dysarthria (so-called dysphonia), which created a diagnostic dilemma. Later, a neurological examination and other relevant investigations suggested myasthenia gravis. CONCLUSIONS: Sudden onset and focal neurological deficit can raise the diagnostic dilemma of myasthenia gravis. Relevant laboratory tests and clinical examinations are important to diagnose this disease properly. In resources-deprived nations like Nepal, where several investigations are expensive and access to them is difficult, it becomes very difficult to achieve a solid diagnosis for rare presentations of diseases.

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency.

Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown-Vialetto-Van Laere and Fazio-Londe syndromes since the discovery of pathogenic mutations in the SLC52A2 and SLC52A3 genes that encode human riboflavin transporters RFVT2 and RFVT3. Patients present with a deteriorating progression of peripheral and cranial neuropathy that causes muscle weakness, vision loss, deafness, sensory ataxia, and respiratory compromise which when left untreated can be fatal. Considerable progress in the clinical and genetic diagnosis of RTDs has been made in recent years and has permitted the successful lifesaving treatment of many patients with high dose riboflavin supplementation. In this review, we first outline the importance of riboflavin and its efficient transmembrane transport in human physiology. Reports on 109 patients with a genetically confirmed diagnosis of RTD are then summarized in order to highlight commonly presenting clinical features and possible differences between patients with pathogenic SLC52A2 (RTD2) or SLC52A3 (RTD3) mutations. Finally, we focus attention on recent work with different models of RTD that have revealed possible pathomechanisms contributing to neurodegeneration in patients.

The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa.

This report describes the first case of a child with genetically confirmed Brown-Vialetto-van Laere syndrome in sub-Saharan Africa. This is an extremely rare clinical condition that presents with an auditory neuropathy, bulbar palsy, stridor, muscle weakness, and respiratory compromise that manifests with diaphragmatic and vocal cord paralysis. It is an autosomal recessive condition for which the genetic mutation has only recently been linked to a riboflavin transporter deficiency. We describe an 11-month-old affected male infant. He has required long-term respiratory support and a gastrostomy tube to support feeding. With high-dose riboflavin supplementation, he had limited recovery of motor function. His respiratory chain enzyme studies were abnormal suggestive of mitochondrial (mt) dysfunction. In the setting of limited resources, recognition of this striking clinical phenotype is important to highlight, specifically regarding the genetic implications of the condition and the potentially remedial response to vitamin supplementation.

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

Brown-Vialetto-van Laere syndrome is characterized by a progressive sensorimotor neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory insufficiency. Mutations in SLC52A2 and SLC52A3, encoding riboflavin transporters RFVT2 and RFVT3, respectively, are the genetic basis of this disorder, often referred to as riboflavin transporter deficiency types 2 and 3, respectively. We present cases of both types of riboflavin transporter deficiency, highlighting the distinguishing clinical features of a rapidly progressive motor or sensorimotor axonal neuropathy, optic atrophy, sensorineural hearing loss, and bulbar dysfunction. One child presented with isolated central apnea and hypoventilation, not previously described in genetically confirmed Brown-Vialetto-van Laere, later complicated by diaphragmatic paralysis secondary to phrenic nerve palsy. Magnetic resonance imaging showed T2 hyperintensity in the dorsal spinal cord in 2 children, as well as previously unreported cervical nerve root enlargement and cauda equina ventral nerve root enhancement in 1 child. Novel homozygous mutations were identified in each gene-a NM_024531.4(SLC52A2):c.505C > T, NP_078807.1(SLC52A2):p.(Arg169Cys) variant in SLC52A2 and NM_033409.3(SLC52A3):c.1316G > A, NP_212134.3(SLC52A3):p.(Gly439Asp) variant in SLC52A3. Both treated children showed improvement on high-dose riboflavin supplementation, highlighting the importance of early recognition of this treatable clinical entity.

Emergencies in motoneuron disease.

Genetic and acquired motor-neuron-disorders (MNDs) may undergo acute deterioration resulting in various emergency situations. This literature review aims at summarising and discussing current knowledge about emergencies in MNDs. Emergencies that have been reported in MND patients include: respiratory, bulbar, cardiac, septic, epileptic, psychiatric, pain-related, and traumatic emergencies. Emergencies due to respiratory insufficiency have the strongest impact on morbidity and mortality in MNDs. To optimise the management of emergencies in MNDs, it is recommended to discuss these topics with the patient prior to their occurrence. After informed consent, patients may indicate their decision by signing an advance directive as to how such emergencies should be managed in case they arise. Generally, treatment of emergencies in MNDs is not at variance from treatment of similar emergencies due to other causes, but some peculiarities need to be pointed out. It is concluded that patients with MNDs may experience various emergencies during the disease course. Management of these conditions should be discussed with the patient prior to their appearance. Management of these emergencies follows general guidelines, which widely vary between countries, and depend on the availability of a patient's advance directive.

[Effective acupoints for bulbar paralysis by professor GAO Weibin].

Professor GAO Weibin academically advocates, based on basic theory of TCM and theories of different schools, modern science technology should be used for the methods and principles of acupuncture and Chinese medicine for neuropathy, so as to explore and summarize the rules, characteristics and advantages of TCM for nervous system disease, especially bulbar paralysis. During the treatment of bulbar paralysis, professor GAO creatively proposes the effective acupuncture points such as Gongxue, Tunyan-1, Tunyan-2, Fayin, Tiyan and Zhifanliu from the aspects of neuroanatomy, and analyzes their anatomical structure and action mechanism.

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience.

INTRODUCTION: Riboflavin (vitamin B2) is absorbed in the small intestine by the human riboflavin transporters RFVT1 and RFVT3. A third riboflavin transporter (RFVT2) is expressed in the brain. In 2010 it was demonstrated that mutations in the riboflavin transporter genes SLC52A2 (coding for RFVT2) and SLC52A3 (coding for RFVT3) cause a neurodegenerative disorder formerly known as Brown-Vialetto-Van Laere (BVVL) syndrome, now renamed to riboflavin transporter deficiency. Five years after the diagnosis of the first patient we performed a review of the literature to study the presentation, treatment and outcome of patients with a molecularly confirmed diagnosis of a riboflavin transporter deficiency. METHOD: A search was performed in Medline, Pubmed using the search terms 'Brown-Vialetto-Van Laere syndrome' and 'riboflavin transporter' and articles were screened for case reports of patients with a molecular diagnosis of a riboflavin transporter deficiency. RESULTS: Reports on a total of 70 patients with a molecular diagnosis of a RFVT2 or RTVT3 deficiency were retrieved. The riboflavin transporter deficiencies present with weakness, cranial nerve deficits including hearing loss, sensory symptoms including sensory ataxia, feeding difficulties and respiratory difficulties which are caused by a sensorimotor axonal neuropathy and cranial neuropathy. Biochemical abnormalities may be absent and the diagnosis can only be made or rejected by molecular analysis of all genes. Treatment with oral supplementation of riboflavin is lifesaving. Therefore, if a riboflavin transporter deficiency is suspected, treatment must be started immediately without first awaiting the results of molecular diagnostics.

Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin.

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare and severe neurometabolic disease. We present two siblings with BVVLS with a novel homozygous mutation in SLC52A3 (formerly C20orf54) gene. The first sibling was admitted with respiratory insufficiency and required mechanical ventilation. After administration of a high dose of riboflavin, all his clinical symptoms were resolved, which also strongly suggested the diagnosis of BVVLS. The second sibling was also found to have the same genetic mutation as her brother. Although she was symptom-free, riboflavin was initiated empirically. On follow-up, she developed no neurologic or metabolic problems with entirely normal growth and development. BVVLS should be considered in the differential diagnosis of unexplained neurologic symptoms such as polyneuropathy and respiratory insufficiency, as BVVLS and multiple acyl-CoA dehydrogenation defect have broadly overlapping symptoms. Furthermore, our cases once again suggest that with proper diagnosis and early high-dose riboflavin treatment, complete reversal of neurologic deficits in BVVLS is possible.

Outcomes of Neonatal Bulbar Weakness.

BACKGROUND AND OBJECTIVE: Neonatal bulbar weakness (BW) has various etiologies and a broad prognostic range. We aimed to report outcomes in a large series of children with neonatal BW and explore the association of orofacial electrodiagnostic data with outcome. METHODS: We retrospectively reviewed the files of children who presented with facial, lingual, laryngeal, or pharyngeal weakness at birth and who underwent electrodiagnostic studies combining conventional needle electromyography (EMG) of orofacial muscles, blink responses, and EMG during bottle-feeding. Outcome measures included the need for prolonged respiratory assistance and enteral feeding, as well as sensorimotor and cognitive impairments. RESULTS: Of 175 patients, 73% had developmental disorders, 25% suffered from acquired brain damage, and 2% had no apparent underlying disorders. Motor or mental impairment was observed in 71%; death occurred in 16%. Outcomes were not significantly different when comparing developmental disorders versus acquired brain damage or neurogenic versus normal detection EMG. Abnormal blink responses were associated with higher frequencies of respiratory assistance (P = .03), gastrostomy (P = .025), and death (P = .009); moderate or severe oropharyngeal incoordinations were associated with higher frequencies of respiratory assistance (P = .006), prolonged enteral feeding (P < .0001), and gastrostomy (P = .0002). CONCLUSIONS: Orofacial electrodiagnostic studies provide supplementary information to help the pediatrician anticipate the management and prognosis of young infants with BW.

[Efficacy observation of post-stroke pseudo-bulbar palsy treated with quick needle insertion therapy at Aqiang point].

OBJECTIVE: To explore the efficacy of local acupuncture therapy on post-stroke pseudo-bulbar palsy and the clinical advantageous protocol of local acupuncture therapy. METHODS: Eighty patients of post-stroke pseudo-bulbar palsy were randomized into a quick needle insertion group and a routine acupuncture group, 40 cases in each one. The western medicine, such as thrombolysis, lipid regulation, antiplatelet aggregation, antihypertension and hypoglycemic therapy method was all used in the two groups. On the basis of the treatment of western medicine, in the quick needle insertion group, the perpendicular needle insertion was used at Aqiang point, about 8 to 12 mm in depth. When the emptiness feeling presented under the needle, the needle went slowly for 2 mm more depth till cough occurred, and removed afterward. The treatment was given once every day, and totally 20 treatments were required. In the routine acupuncture group, Lianquan (CV 23) was stimulated. The needle was inserted toward the tongue root, about 40 mm in depth. The needle was rotated till the patient felt soreness and distention at the tongue root, and then retained for 30 min. The treatment was given once a day, and totally 20 treatments were required. The water swallow test score and clinical efficacy were evaluated before and after treatment. RESULTS: The curative rate was 80.0% (32/40) in the quick needle insertion group, better than 55.0% (22/40) in the routine acupuncture group (P<0.05). The total effective rate was 97.5% (39/40) in the quick needle insertion group and was 90.0% (36/40) in the routine acupuncture group, indicating no significant difference in comparison (P>0.05). The water swallow test scores decreased after treatment as compared with those before treatment in the two groups (both P<0.01), and the water swallow test scores after treatment of the two groups had no significant difference (P>0.05). CONCLUSIONS: Acupuncture at local point is effective for post-stroke pseudo-bulbar palsy.The curative rate of quick needle insertion at Aqiang point is better than routine acupuncture at Lianquan (CV 23).

[Clinical observation on medulla oblongata palsy after brainstem infarction treated with electroacupuncture at eight-neck-occiput points].

OBJECTIVE: To compare the differences in the efficacy on speech and swallowing dysfunction of medulla oblongata palsy (MOP) after brainstem infarction between electroacupuncture at eight-neck-occiput points and routine acupoints. METHODS: Seventy-two patients were randomized into a neck-occiput points group and a meridian points group, 36 cases in each one. In the neck-occiput points group, the eight-neck-occiput points (Neck 1-4 points, Occiput 1-4 points) were selected. In the meridian points group, Lianquan (CV 23), Futu (LI 18), Tongli (HT 5), Hegu (LI 4) and the others were selected. Electroacupuncture was used in the two groups, dense-dispersion wave, retaining for 30 min. The treatment was given once a day, 5 treatments a week. Totally, 4 weeks were required. The symptom scores of speech and swallowing dysfunction were observed before and after treatment in the two groups. The efficacy was compared between the two groups. RESULTS: The scores of speech and swallowing dysfunction were improved significantly after treatment in the two groups (P < 0.05, P < 0.01). The results in the neck-occiput points group were better than those in the meridian points group (both P < 0.01). The curative rate of speech dysfunction was 30.6% (11/36) and that of swallowing dysfunction was 22.2% (8/ 36) in the neck-occiput points group, which were better than 11.1% (4/36) and 5.6% (2/36) in the meridian points group, respectively. The differences were significant in comparison of the two groups (P < 0.01, P < 0.05). CONCLUSION: Electroacupuncture at eight-neck-occiput points achieves a better efficacy on speech and swallowing dysfunction of MOP after brainstem infarction as compared with the routine acupoints. This therapy is characterized as more accurate point localization and safer operation.

Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient.

The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder characterized by progressive pontobulbar palsy, sensorineural deafness and mixed spinal and upper motor neuropathy. Mutations in the C20orf54 gene have been linked to the disease and recently we reported the first Italian case of a BVVLS family with an intriguing C20orf54 genotype. However, the pathomechanisms underlying BVVLS are still unknown. Here we present the particular disease course with partial response to immunosuppressive therapy of our BVVLS patient for whom we hypothesize that dysimmune factors may have played a role in disease physiopathology.