Autosomal recessive axonal neuropathy with neuromyotonia in a Tibetan family caused by HINT1 gene variation and literature review / 中华实用儿科临床杂志

Objective:To summarize the characteristics of autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) caused by HINT1 gene mutation. Methods:Retrospective case summary.Clinical data of 2 Tibetan siblings diagnosed with ARAN-NM in the Department of Pediatrics of Peking University First Hospital in August 2023 were retrospectively analyzed.A review of literature reporting relevant Chinese patients was conducted.Results:The proband and her elder brother were aged 13 and 19, respectively.Both developed abnormal gait at the age of 11, followed by varus, claudication, and weak thumb strength.The proband also had neuromyotonia.Physical examinations showed that the proband and her elder brother had decreased muscle strength of the extremities, mainly in the thumbs and distal ends of lower limbs.The distal muscles of the proband′s lower extremities and the muscles of both hands of the proband′s elder brother were atrophied.Both feet showed talipes equinovarus in the proband and her elder brother.The proband′s electromyography (EMG) showed peripheral nerve injuries (motor and sensory axonal involvement, especially in distal ends) and myotonic potentials.The trio-whole exon sequencing detected homozygous pathogenic variation in HINT1 gene in both the proband and her elder brother, who were diagnosed as ARAN-NM based on c. 169A>G (p.K57E). After the Carbamazepine treatment, the proband′s neuromyotonia, numbness and weakness were relieved.Both the proband and her elder brother underwent orthopaedic surgery and rehabilitation.Their foot deformities and gait were significantly improved.Two Chinese literatures (2 patients) and four English literatures (8 patients) were retrieved.Including the proband and her elder brother in this study, there were 12 ARAN-NM patients, 10 of whom had clinical data.The ages of onset and diagnosis were 2-16 (1 case unknown) and 13-33 years old, respectively.Myasthenia was present in 9 patients, especially in distal ends.Eight patients were complicated with neuromyotonia, nine patients with muscle atrophy, seven patients with foot deformity, and two patients with sensory disturbance.Creatine kinase(CK) was elevated in all 9 patients tested or CK.EMG showed neurogenic injuries in all patients and neuromyotonia discharge in six patients.Three patients were treated with Carbamazepine, and some symptoms were relieved.Missense/nonsense mutations were found in the 12 patients, and the high-frequency variation was c. 112T>C (p.C38R). Conclusions:ARAN-NM is a rare autosomal recessive neuromuscular disease caused by HINT1 gene mutation.There is no ethnic difference in clinical manifestations, mainly distal limb weakness with neuromyotonia.Carbamazepine can alleviate some symptoms, and orthopaedic surgery can improve foot deformity and gait.

Guillain-Barre syndrome in northeastern Yunnan Province， China： A single-center retrospective analysis of 112 cases / 中风与神经疾病杂志

@#Objective To explore the clinical characteristics of patients with Guillain-Barré syndrome （GBS） in northeastern Yunnan Province， China， and to provide a basis for clinical diagnosis and treatment of GBS in this region. Methods We retrospectively analyzed the clinical data of inpatients with GBS in the Department of Neurology， Qujing No. 1 Hospital from February 2018 to October 2022， who were mainly from the northeastern regions of Yunnan Province. We compared the clinical characteristics of GBS reported in different regions of China in recent years. Results A total of 112 patients meeting the criteria were retrospectively included in this study， including 49 cases of acute inflammatory demyelinating polyneuropathy （AIDP） and 33 cases of acute motor axonal neuropathy （AMAN）. In this cohort of patients， GBS occurred frequently in spring and winter， especially in spring （38 cases， 33.9%）. AIDP was more common in winter （15 cases， 30.6%）， while AMAN was more common in spring （14 cases， 42.4%）. The median age of onset was 56 years （range： 8 to 83 years）， peaking at the age of 60 to 69 years. The male-to-female ratio was 1.60 （69∶43）. Upper respiratory tract infection （25 cases， 22.3%） and gastroenteritis （14 cases， 12.5%） were the most common among prodromal infections. AIDP was the most common subtype （49 cases， 51.6%）. There were no significant differences between the AIDP and AMAN groups in age of onset， prodromal infection， initial symptoms， clinical manifestations， cerebrospinal fluid protein levels， or therapeutic effects （P>0.05）. Twelve patients （10.7%） required mechanical ventilation at nadir. The patients with mechanical ventilation had higher proportions of cranial nerve involvement compared with those without mechanical ventilation， especially in the proportion of dysphagia （75.0% vs 32.0%， P=0.008 1）. Upper respiratory tract infection was the main prodromal event of GBS in Dali of Yunnan Province and the southern and eastern regions of China， where the proportions ranged from 22% to 35%. Gastroenteritis was more common in the northern region of China， accounting for 24%. AMAN was the predominant GBS subtype in northern （40%） and eastern （35%） China， while AIDP was the predominant subtype in southern China （49%）. Conclusion GBS showed disparities in different regions， with the demyelinating subtype dominant in northeastern Yunnan Province. GBS mainly occurred in men and at the age of 60-69 years， with a double-peak distribution. Gastrointestinal and respiratory infections remained the major prodromal events in this region. Cranial nerve involvement， especially bulbar muscle involvement， might be associated with the risk of mechanical ventilation.

Giant axonal neuropathy / 中华神经科杂志

Giant axonal neuropathy is a rare neurodegenerative disease in children, which is autosomal recessive inheritance. Giant axonal neuropathy is caused by homozygous or compound heterozygous mutation in the gigaxonin gene on chromosome 16q23.2. Giant axonal neuropathy is a chronic polyneuropathy that affects both the peripheral and central nervous systems. Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsy are the pathologic hallmark of this neurodegenerative disorder. The article describes the pathogenesis, clinical manifestation, diagnosis and differential diagnosis of giant axonal neuropathy, to provide reference for clinical diagnosis and treatment of this disease.

Pain abdomen and cardiac arrest as peculiar presenting symptoms in AIDP- AMSAN variety

AIDP (Acute Inflammatory Demyelinating Polyneuropathy) is a heterogenous condition encompassing several variants. It is a post infectious neurological disorder with an autoimmune pathogenesis with molecular mimicry mechanism. They present commonly with symmetrical ascending type paralysis and absent or diminished deep tendon reflexes. Cranial nerve palsies may or may not be present. The diagnosis is based on the clinical signs and symptoms, nerve conduction studies and cerebrospinal fluid analysis. We herewith report a rare case of AIDP, where the patient came walking to the emergency room with pain abdomen as the only complaint and had no neurological deficits at the time of presentation, hours later, the patient went into cardiac arrest, the cause of which was later thought to be dysautonomia and respiratory failure. The next day, patient developed motor weakness and multiple cranial nerve palsies which is an overlap of AMSAN and Acute Ophthalmoplegia. It is extremely uncommon to present with pain abdomen and cardiac arrest as presenting features in AIDP, AMSAN (Acute Motor Sensory Axonal Neuropathy) variety.

Leptomeningeal carcinomatosis presenting with acute motor axonal neuropathy

Leptomeningeal carcinomatosis is a rare, devastating, and mostly late-stage complication of various solid tumors and hematologic malignancies. The diagnosis can be challenging especially if malignancy is not in active phase or treatment was discontinued. A literature search revealed various unusual presentations of leptomeningeal carcinomatosis including cauda equina syndrome, radiculopathies, acute inflammatory demyelinating polyradiculoneuropathy, and others. To the best of our knowledge, this is the first case of leptomeningeal carcinomatosis presenting with acute motor axonal neuropathy variant of Guillain-Barré Syndrome and unusual cerebrospinal fluid findings known as Froin’s syndrome.

Acute motor axonal neuropathy following anti-rabies human diploid cell vaccine: A rare case and review

Rationale: Guillain Barre syndrome (GBS) is an acute neurological illness leading to quadriparesis with respiratory involvement. It can be triggered by infections, vaccinations, surgery, trauma, transplantation and drugs. Anti-rabies cell culture vaccines introduced to overcome the high rate of neurological complications associated with tissue based rabies vaccine, can be very rarely associated with GBS. Patient concerns: A 50-year-old female presented with acute severe upper back pain evolving into pure motor quadriparesis following administration of human diploid cell vaccine for rabies. Diagnosis: Acute motor axonal neuropathy variant of GBS following anti-rabies human diploid cell vaccine. Interventions: Intravenous high dose steroids. Outcomes: Patient recovered completely within 1 month. Lessons: Although anti-rabies cell culture vaccines are highly immunogenic and safe, they are rarely associated with GBS. Clinicians should be aware of this link because prompt diagnosis and treatment can result in complete recovery and avoid complications.

Clinical characteristics and plasma exchange response in Guillain-Barré patients / Características clínicas y respuesta al recambio plasmático terapéutico en los pacientes con síndrome de Guillain Barré

El objetivo del estudio fue describir las características clínicas, la respuesta al tratamiento y posibles factores asociados de los pacientes con síndrome de Guillain Barré en el Instituto Nacional de Ciencias Neurológicas. Se realizó un estudio descriptivo sobre egresos hospitalarios durante el periodo 2017-2019. La respuesta al tratamiento se evaluó mediante la escala de discapacidad de Hughes. De los 31 pacientes el 61,3% eran varones, y la edad promedio fue de 50 años. Al ingreso, el 87,1% de pacientes se encontraban en el grado 3 o 4 de la escala de Hughes, la mayoría con compromiso axonal, el cual estuvo asociado a discapacidad. Solo 22 pacientes recibieron recambio plasmático; luego de seis meses el 90,9% disminuyó al menos en un grado en la escala de Hughes y el 42,8% quedaron sin discapacidad. En conclusión, se encontró un predominio del sexo masculino y del compromiso axonal, este último asociado a discapacidad.

Características clínicas y respuesta al recambio plasmático terapéutico en los pacientes con síndrome de Guillain Barré / Clinical characteristics and plasma exchange response in Guillain-Barré patients

RESUMEN El objetivo del estudio fue describir las características clínicas, la respuesta al tratamiento y posibles factores asociados de los pacientes con síndrome de Guillain Barré en el Instituto Nacional de Ciencias Neurológicas. Se realizó un estudio descriptivo sobre egresos hospitalarios durante el periodo 2017-2019. La respuesta al tratamiento se evaluó mediante la escala de discapacidad de Hughes. De los 31 pacientes el 61,3% eran varones, y la edad promedio fue de 50 años. Al ingreso, el 87,1% de pacientes se encontraban en el grado 3 o 4 de la escala de Hughes, la mayoría con compromiso axonal, el cual estuvo asociado a discapacidad. Solo 22 pacientes recibieron recambio plasmático; luego de seis meses el 90,9% disminuyó al menos en un grado en la escala de Hughes y el 42,8% quedaron sin discapacidad. En conclusión, se encontró un predominio del sexo masculino y del compromiso axonal, este último asociado a discapacidad.

ABSTRACT The objective of the study was to describe the clinical characteristics, treatment response and possible associated factors of patients with Guillain-Barré syndrome at the National Institute of Neurological Sciences. A descriptive study on hospital discharges was conducted during the period 2017-2019. Treatment response was evaluated based on Hughes' disability scale. From 31 patients 61.3% were males and the mean age was 50 years. At admission, 87.1% of patients were on grade 3 or 4 of Hughes scale, most of them with axonal compromise which was associated to disability. Only 22 patients received plasma exchange; 6 months thereafter, 90.9% of patients decreased by at least one degree in Hughes scale and 42.8% were left without disability. In conclusion, a male and axonal subtype predominance was found, been the latter associated to disability.

Características clínicas y respuesta al recambio plasmático terapéutico en los pacientes con síndrome de Guillain Barré / Clinical characteristics and plasma exchange response in Guillain-Barré patients

RESUMEN El objetivo del estudio fue describir las características clínicas, la respuesta al tratamiento y posibles factores asociados de los pacientes con síndrome de Guillain Barré en el Instituto Nacional de Ciencias Neurológicas. Se realizó un estudio descriptivo sobre egresos hospitalarios durante el periodo 2017-2019. La respuesta al tratamiento se evaluó mediante la escala de discapacidad de Hughes. De los 31 pacientes el 61,3% eran varones, y la edad promedio fue de 50 años. Al ingreso, el 87,1% de pacientes se encontraban en el grado 3 o 4 de la escala de Hughes, la mayoría con compromiso axonal, el cual estuvo asociado a discapacidad. Solo 22 pacientes recibieron recambio plasmático; luego de seis meses el 90,9% disminuyó al menos en un grado en la escala de Hughes y el 42,8% quedaron sin discapacidad. En conclusión, se encontró un predominio del sexo masculino y del compromiso axonal, este último asociado a discapacidad.

ABSTRACT The objective of the study was to describe the clinical characteristics, treatment response and possible associated factors of patients with Guillain-Barré syndrome at the National Institute of Neurological Sciences. A descriptive study on hospital discharges was conducted during the period 2017-2019. Treatment response was evaluated based on Hughes' disability scale. From 31 patients 61.3% were males and the mean age was 50 years. At admission, 87.1% of patients were on grade 3 or 4 of Hughes scale, most of them with axonal compromise which was associated to disability. Only 22 patients received plasma exchange; 6 months thereafter, 90.9% of patients decreased by at least one degree in Hughes scale and 42.8% were left without disability. In conclusion, a male and axonal subtype predominance was found, been the latter associated to disability.

Síndrome de Sjögren primario que debuta con polimiositis mitocondrial, neuropatía axonal y parálisis hipopotasémica: reporte de caso / Onset of primary Sjögren syndrome with mitochondrial polymyositis, axonal neuropathy, and hypokalaemic paralysis: Case report

RESUMEN El síndrome de Sjögren es una entidad multisistémica de naturaleza autoinmune, clásicamente considerada una exocrinopatía debido a la alta frecuencia de síntomas secos (queratoconjuntivitis seca, xerostomía) como resultado de infiltración poliglandular por linfocitos autorreactivos. Sin embargo, menos del 10% de estos pacientes puede iniciar con manifestaciones extraglandulares severas, traducidas en peores desenlaces a largo plazo. Se presenta el caso de una gestante que inició con síndrome de debilidad aguda proximal relacionada con miositis con enfermedad mitocondrial e hipopotasemia severa, en el contexto de acidosis tubular renal distal, como manifestación extraglandular de síndrome de Sjögren primario. Se discuten brevemente manifestaciones neurológicas de esta entidad, incluyendo aquellas secundarias a trastornos metabólicos precipitados por compromiso autoinmune.

ABSTRACT Sjögren's syndrome is a multisystemic autoimmune disorder. It is classically considered as an exocrine disease, given the high frequency of dry symptoms (keratoconjunctivitis sicca, xerostomia) as a result of poly-glandular infiltration by autoreactive lymphocytes. However, less than 10% of these patients can onset with severe extra-glandular manifestations, resulting in worse long-term outcomes. The case of a pregnant woman is presented, who debuted with acute proximal weakness syndrome related to myositis with mitochondrial pathology and severe hypokalaemia in the context of distal renal tubular acidosis, as an extra-glandular manifestation of primary Sjögren's syndrome. Neurological manifestations of this condition are briefly discussed, including those secondary to metabolic disorders precipitated by autoimmune compromise.

Guillain-barre Syndrome Complicating Dengue Fever

Guillain-Barre syndrome (GBS) is an immune mediated demyelinating polyradiculo-neuropathy manifesting as as-cending paralysis with loss of deep tendon reflexe. It has been seen more commonly as a post infectious complica-tion of Campylobacter jejuni and Cytomegalovirus infection but a rare neurological manifestation of Dengue infec-tion. Here we are presenting such a case of Guillain-Barre syndrome as a complication of Dengue infection.

Pili canaliculi as manifestation of giant axonal neuropathy

Abstract Giant axonal neuropathy is a rare autosomal recessive neurodegenerative disease. The condition is characterized by neurons with abnormally large axons due to intracellular filament accumulation. The swollen axons affect both the peripheral and central nervous system. A 6-year old female patient had been referred to a geneticist reporting problems with walking and hypotonia. At the age of 10, she became wheelchair dependent. Scanning electron microscopy of a curly hair classified it as pili canaliculi. GAN gene sequencing demonstrated mutation c.1456G>A (p.GLU486LYS). At the age of 12, the patient died due to respiratory complications. Dermatologists should be aware of this entity since hair changes are considered suggestive of GAN.

Prediction of Functional Outcome in Axonal Guillain-Barre Syndrome

OBJECTIVE: To identify the factors that could predict the functional outcome in patients with the axonal type of Guillain-Barre syndrome (GBS). METHODS: Two hundred and two GBS patients admitted to our university hospital between 2003 and 2014 were reviewed retrospectively. We defined a good outcome as being "able to walk independently at 1 month after onset" and a poor outcome as being "unable to walk independently at 1 month after onset". We evaluated the factors that differed between the good and poor outcome groups. RESULTS: Twenty-four patients were classified into the acute motor axonal neuropathy type. There was a statistically significant difference between the good and poor outcome groups in terms of the GBS disability score at admission, and GBS disability score and Medical Research Council sum score at 1 month after admission. In an electrophysiologic analysis, the good outcome group showed greater amplitude of median, ulnar, deep peroneal, and posterior tibial nerve compound muscle action potentials (CMAP) and greater amplitude of median, ulnar, and superficial peroneal sensory nerve action potentials (SNAP) than the poor outcome group. CONCLUSION: A lower GBS disability score at admission, high amplitude of median, ulnar, deep peroneal, and posterior tibial CMAPs, and high amplitude of median, ulnar, and superficial peroneal SNAPs were associated with being able to walk at 1 month in patients with axonal GBS.

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family / Enfermedad de Charcot Marie Tooth (CMT4A) por mutacion en el gen GDAP1: reporte de una familia colombiana

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: We describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.

Antecedentes: Las mutaciones del gen GDAP1 son causantes de la enfermedad de Charcot Marie Tooth tanto autosómica dominante como recesiva, y se han reportado más de 40 mutaciones distintas. La mutación recesiva Q163X ha sido descrita en pacientes de ascendencia española y se ha demostrado una mutación fundadora originaria de España en pacientes de origen suramericano. Describimos las características físicas e histológicas y el impacto molecular de la mutación Q163X en una familia colombiana. Objetivo: Se describe el impacto de la mutación Q163X en las características físicas, histológicas y moleculares en una familia colombiana. Métodos: Se describe dos pacientes de sexo femenino, hijas de padres consanguíneos, quienes presentaron inicio de síntomas en los dos primeros años de vida, mostrando deterioro funcional severo, sin evidencia de dismorfía, disfonía o parálisis diafragmática. Los estudios de electrofisiología mostraron una neuropatía sensitiva y motora con patrón axonal. Se solicitó la secuenciación del gen GDAP1, y el estudio identificó una mutación homocigota puntual (c. 487 C>T) en el exón 4, causando un codón de parada prematuro (p. Q163X). Este resultado confirma el diagnóstico de Enfermedad de Charcot Marie Tooth, tipo 4A (recesiva, tipo axonal). Resultados: Las pacientes fueron remitidas al servicio de Fisiatría para evaluación de métodos de asistencia para deambulación. Ellas reciben seguimiento por el servicio de Neumología, quienes vigilan la función pulmonar y el desarrollo de parálisis diafragmática. Se brindó asesoramiento genético. La genealogía del paciente, las características fenotípicas y los hallazgos en los estudios electrofisiológicos son herramientas valiosas en el enfoque clínico del paciente con CMT, de forma que se pueda plantear una posible mutación causal. Se debe considerar la presencia de mutaciones en el gen GDAP1 en pacientes de origen suramericano, en especial la mutación Q163X, como causa de CMT4A.

Guillain-Barre syndrome with preserved reflexes and normal cerebrospinal fluid: a case study.

Guillain-Barre syndrome (GBS) is an acute fulminant polyradiculopathy, which typically manifests as areflexic paralysis with variable sensory and autonomic involvement. Typical cerebrospinal fluid (CSF) picture consists of an elevated CSF protein without pleocytosis (albumin-cytologic dissociation). There have been many case reports of atypical presentations of GBS; with normo-reflexia or even hyper-reflexia from Chinese/Japanese and European population but only a few from Indian Subcontinent. Also the typical CSF picture if not found, makes the diagnosis of GBS even more difficult. A 24-year‑old man presented with weakness of all 4 limbs of 4 days duration with the antecedent history of loose stools and fever. On examination, there was flaccid paralysis involving all the 4 limbs (lower limb weakness more than the upper limb) with preserved reflexes, no sensory or cranial nerve deficit, no bladder-bowel involvement; and a normal CSF study at presentation, which 1 week later showed albumin-cytologic dissociation. On electro-diagnostic studies, it was proven as a case of acute motor axonal neuropathy. Patient was managed with routine empirical antibiotics and intravenous methyl prednisone; after 3 weeks, patient was discharged in a stable condition without any residual deficit. Our understanding about the GBS has changed manifolds over the last few decades with many atypical variants being reported across the world. This case study is to lay stress on the fact that even in the absence of typical clinical features and a normal CSF study the diagnostic possibility of GBS should be kept if there is strong clinical suspicion.

Guillain Barre Syndrome: A Rare Presentation Mimicking Acute Stroke.

Guillain Barre Syndrome (GBS) is an acute neuromuscular weakness and paralysis associated with areflexia and often spontaneous recovery, but carries the potential risk of respiratory depression owing to muscle weakness. Worldwide, 1 to 3 cases/100,000 are reported. The syndrome is most commonly reported as symmetrical ascending weakness in arms and legs accompanied by hyporeflexia or areflexia. Sensory disturbances are not required for diagnosis, but may or may not be present. Acute inflammatory demyelinating poly-radiculoneuropathy (AIDP) is the most common variant, but acute motor and sensory axonal neuropathy (ASMAN) is more severe and usually leads to partial or slow recovery. We present a case of GBS presenting with asymmetric weakness and sensory disturbance in a patient with bloody diarrhea of unknown etiology. This patient had asymmetrical paralysis mimicking stroke, but the physical findings, laboratory studies, normal CT and MRI of the brain, Electromyogram (EMG) and the patient’s improvement with Intravenous Immunoglobulin (IVIG) support the diagnosis of GBS. People with inflammatory bowel disease are at increased risk of developing GBS. Persons with antecedent Campylobacter jejuni infections are 77 percent more likely to contract GBS compared to the general population, and Cytomegalovirus (CMV) and Epstein Barr virus (EBV) are also implicated risk factors.

Antibodies to the Antiganglioside GD1b in a Guillain-Barre Syndrome Patient with Bilateral Cerebellar Lesions

No abstract available.

Prevalence of Anti-Ganglioside Antibodies and Their Clinical Correlates with Guillain-Barre Syndrome in Korea: A Nationwide Multicenter Study

BACKGROUND AND PURPOSE: No previous studies have investigated the relationship between various anti-ganglioside antibodies and the clinical characteristics of Guillain-Barre syndrome (GBS) in Korea. The aim of this study was to determine the prevalence and types of anti-ganglioside antibodies in Korean GBS patients, and to identify their clinical significance. METHODS: Serum was collected from patients during the acute phase of GBS at 20 university-based hospitals in Korea. The clinical and laboratory findings were reviewed and compared with the detected types of anti-ganglioside antibody. RESULTS: Among 119 patients, 60 were positive for immunoglobulin G (IgG) or immunoglobulin M antibodies against any type of ganglioside (50%). The most frequent type was IgG anti-GM1 antibody (47%), followed by IgG anti-GT1a (38%), IgG anti-GD1a (25%), and IgG anti-GQ1b (8%) antibodies. Anti-GM1-antibody positivity was strongly correlated with the presence of preceding gastrointestinal infection, absence of sensory symptoms or signs, and absence of cranial nerve involvement. Patients with anti-GD1a antibody were younger, predominantly male, and had more facial nerve involvement than the antibody-negative group. Anti-GT1a-antibody positivity was more frequently associated with bulbar weakness and was highly associated with ophthalmoplegia when coupled with the coexisting anti-GQ1b antibody. Despite the presence of clinical features of acute motor axonal neuropathy (AMAN), 68% of anti-GM1- or anti-GD1a-antibody-positive cases of GBS were diagnosed with acute inflammatory demyelinating polyradiculoneuropathy (AIDP) by a single electrophysiological study. CONCLUSIONS: Anti-ganglioside antibodies were frequently found in the serum of Korean GBS patients, and each antibody was correlated strongly with the various clinical manifestations. Nevertheless, without an anti-ganglioside antibody assay, in Korea AMAN is frequently misdiagnosed as AIDP by single electrophysiological studies.

Guillain-Barré syndrome and its variants: a case of acute motor-sensory axonal neuropathy in Jamaica / Síndrome de Guillain-Barré y sus variantes: un caso de la neuropatía axonal sensorial motor aguda en Jamaica

This paper reports a case of a Jamaican young woman who experienced flaccid quadriparesis and bulbar weakness over a three-week period after a gastrointestinal illness. Nerve conduction studies confirmed an axonal type neuropathy consistent with the acute motor-sensory axonal neuropathy variant of the Guillain-Barré syndrome. Recovery, although evident, was slow and was augmented after a course of intravenous immunoglobulin. The patient was discharged from hospital after three months but was re-admitted one week later and eventually succumbed to complications of the illness. This case serves as a reminder that Guillain-Barré syndrome is now the most common cause of acute flaccid paralysis and should be considered early in all patients presenting with flaccid quadriparesis.

El presenta trabajo reporta el caso de una joven jamaicana que experimentó debilidad bulbar y cuadriparesiaflácida por un período de tres semanas después de una enfermedad gastrointestinal. Los estudios de conducción nerviosa confirmaron una neuropatía de tipo axonal en correspondencia con la variante de la neuropatía axonal sensorial motora aguda del síndrome de Guillain-Barré. La recuperación, aunque evidente, fue lenta, y aumentó después de que se le aplicara inmunoglobulina intravenosa. La paciente fue dada de alta del hospital después de tres meses, pero fue ingresada de nuevo una semana más tarde, falleciendo finalmente a causa de las complicaciones de la enfermedad. Este caso sirve como recordatorio de que el síndrome de Guillain-Barré es ahora la causa más común de parálisis flácida aguda, y debe tenerse en cuenta temprano en todos los pacientes que acuden con cuadriparesia flácida.

A Case of Acute Motor and Sensory Axonal Neuropathy Following Hepatitis A Infection

Acute motor and sensory axonal neuropathy (AMSAN) are recently described subtypes of Guillain-Barre syndrome characterized by acute onset of distal weakness, loss of deep tendon reflexes, and sensory symptoms. A 21-yr-old male was transferred to our hospital due to respiration difficulties and progressive weakness. In laboratory findings, immunoglobulin M antibodies against hepatitis A were detected in blood and cerebrospinal fluid. The findings of motor nerve conduction studies showed markedly reduced amplitudes of compound muscle action potentials in bilateral peroneal, and posterior tibial nerves, without evidence of demyelination. Based on clinical features, laboratory findings, and electrophysiologic investigation, the patient was diagnosed the AMSAN following acute hepatitis A viral infection. The patient was treated with intravenous immunoglobulin and recovered slowly. Clinicians should consider this rare but a serious case of AMSAN following acute hepatitis A infection.