OBJECTIVE: To investigate the clinical manifestations and genetic characteristics of a child with glycogen storage disease type III (GSD-III) complicated with Guillain-Barré syndrome (GBS) caused by AGL gene variants, and to analyze the pathogenesis, potential correlation, treatment and prognosis of the two diseases. METHODS: A child with GSD-III who visited the General Hospital of Ningxia Medical University due to "limb weakness for more than ten days" in July 2024 was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples of the child and his parents were collected for whole exome sequencing and Sanger sequencing. Candidate variants were verified, and pathogenicity analysis was conducted for the variant sites. This study was approved by the Medical Ethics Committee of General Hospital of Ningxia Medical University (Ethics No.: KYLL-2025-1984). RESULTS: The child has presented with inability to stand or walk independently, difficulty in grasping, accompanied by numbness and pain at the distal end, choking when drinking water, occasional non-projectile vomiting, and enlargement of liver and spleen. Laboratory tests showed abnormal liver function and a significant increase in creatine kinase. Color Doppler ultrasound of the heart showed an enlarged left atrium and mild regurgitation of mitral and tricuspid valves. Genetic testing confirmed that he has harbored compound heterozygous variants of the AGL gene, namely c.1611G>A (p.E537E) and c.579del (p.W194Gfs*7), which were inherited from his father and mother, respectively. According to the guidelines from the American Collage for Medical Genetics and Genomics (ACMG), the two variants were respectively predicted as variant of unknown significance (PM2_Supporting+PM3+PP3_Supporting) and likely pathogenic (PVS1+PM2_Supporting). Electrophysiological examination confirmed that the child had severe damage to the motor and sensory nerves accompanied by axonal injury, which was consistent with the axonal variant type of GBS -acute motor and sensory axonal neuropathy. After a clear diagnosis, the child was treated with intravenous human immunoglobulin. His condition deteriorated progressively, presenting with breathing difficulties, liver failure, and gastrointestinal bleeding, and eventually deceased due to multiple organ failures. CONCLUSION The etiology of GSD-III and GBS involves multiple aspects such as genetics, metabolism and immunity. In clinical practice, it should be noted that similar clinical manifestations may occur in both conditions. Close attention should be paid to the patients' blood glucose, blood gas, coagulation function and liver function, etc. Clinical intervention should be carried out as early as possible to improve the prognosis.
Humans ; Male ; Guillain-Barre Syndrome/complications* ; Glycogen Storage Disease Type III/complications* ; Mutation ; Child

Humans ; Herpesvirus 3, Human ; Myelitis, Transverse/complications* ; Guillain-Barre Syndrome/complications* ; Herpes Zoster/complications* ; Varicella Zoster Virus Infection/complications*

A 40-year-old male patient was referred to our department with complains of recurrent oral ulcer for more than 20 years and vulvar ulcer for more than 10 years. He presented with a 3-month history of right external ophthalmoplegia. More than 10 days ago, the patient received ganglioside infusion. And one week ago, he developed numbness and pain of his lambs, and progressive myasthenia, accompanied by right blepharoptosis and dysuria. On exam, motor strength was graded 0/5 in the lower and the upper extremities. Deep tendon reflexes were diminished in extremities. His admission medical examination: hemoglobin (HGB), white cell and platelet counts were normal. C-reactive protein (CRP) was negative. Erythrocyte sedimentation rate (ESR) 53 mm/h. Antinuclear antibody (ANA), anti-dsDNA antibody, anti-Smith antibody, anti-cardiolipin antibody and human leucocyte antigen B51 were all within normal range. The etiological tests of influenza A pathogen, influenza B pathogen, parainfluenza virus, enterovirus and parvovirus were all negative. He tested positive for serum anti-GM1 IgG. Cerebrospinal fluid had a normal white cell count, an elevated protein content. Gram staining, culture and PCR detection for varicella-zoster virus, cytomegalovirus and herpes simplex virus were all negative. Antibodies associated with autoimmune encephalitis and paraneoplastic syndrome were negative in cerebrospinal fluid. Electromyography and nerve conduction studies showed a severe axonal damage affecting motor nerves. No obvious abnormalities were observed in his magnetic resonance imaging of brain and cavernous sinus. The patient was diagnosed with Behcet syndrome complicated with acute Guillain-Barré syndrome. He received intravenous methylprednisolone, intravenous immunoglobulin (IVIg) therapy, plasma exchange and rituximab treatment. After treatment, the patient's muscle strength of limbs was restored to grade 1, blepharoptosis and pain disappeared. The nervous system involvement of Behcet syndrome is relatively rare, especially combined with Guillain-Barré syndrome, which is easy to cause misdiagnosis. The treatment of Behcet syndrome complicated with acute Guillain-Barré syndrome includes the treatment of primary disease, plasma exchange and IVIg therapy. In addition, supportive treatment is very important for such patients. The focus of treatment is to avoid respiratory insufficiency, prevent deep vein thrombosis, monitor cardiac function and hemodynamics. Pain-relieving, physical exercise and psychological support are often under-recognized. The rehabilitation treatment is very important to improve the prognosis and quality of life of patients. What we need to learn is that when the symptoms and signs of the nervous system are difficult to be explained by neuro-Behcet syndrome alone, we should be alert to the possibility of other nervous system diseases.
Adult ; Animals ; Behcet Syndrome/complications* ; Guillain-Barre Syndrome ; Humans ; Immunoglobulins, Intravenous ; Male ; Methylprednisolone ; Quality of Life ; Sheep

Carcinoma, Renal Cell ; complications ; Guillain-Barre Syndrome ; complications ; Humans ; Kidney Neoplasms ; complications ; Meningeal Neoplasms ; complications ; Meningioma ; complications

Autochthonous hepatitis E virus (HEV) is an emerging pathogen in developed countries, and several cases of acute HEV infection have been reported in South Korea. However, there have been no reports on HEV-associated Guillain-Barré syndrome (GBS) in Korea. We recently experienced the case of a 58-year-old Korean male with acute HEV infection after ingesting raw deer meat. Persistent cholestasis was resolved by the administration of prednisolone. At 2.5 months after the clinical presentation of HEV infection, the patient developed weakness of the lower limbs, and was diagnosed with GBS associated with acute hepatitis E. To our knowledge, this is the second report on supportive steroid therapy for persistent cholestasis due to hepatitis E, and the first report of GBS in a Korean patient with acute HEV infection.
Acute Disease ; Alanine Transaminase/blood ; Antibodies, Viral/blood ; Aspartate Aminotransferases/blood ; Bilirubin/analysis ; Cholestasis/*drug therapy ; Guillain-Barre Syndrome/complications/*diagnosis ; Hepatitis E/*diagnosis/etiology ; Hepatitis E virus/immunology ; Humans ; Immunoglobulin M/blood ; Liver/pathology ; Male ; Middle Aged ; Prednisolone/therapeutic use ; Republic of Korea ; Steroids/*therapeutic use

INTRODUCTIONSevere Guillain-Barré syndrome (GBS) causes ventilatory insufficiency and the need for prolonged artificial ventilation. Under circumstances where medical care for patients with severe GBS is required in a resource-limited institution, identifying initial clinical presentations in GBS patients that can predict respiratory insufficiency and the need for prolonged mechanical ventilation (> 15 days) may be helpful for advanced care planning.

METHODSThe medical records of patients diagnosed with GBS in a tertiary care and medical teaching hospital from January 2001 to December 2010 were retrospectively reviewed. The demographic data and clinical presentations of the patients were summarised using descriptive statistics. Clinical predictors of respiratory insufficiency and the need for prolonged mechanical ventilation (> 15 days) were identified using univariate logistic regression analysis.

RESULTSA total of 55 patients with GBS were included in this study. Mechanical ventilation was needed in 28 (50.9%) patients. Significant clinical predictors for respiratory insufficiency were bulbar muscle weakness (odds ratio [OR] 5.08, 95% confidence interval [CI] 1.31-21.60, p = 0.007) and time to peak limb weakness ≤ 5 days (OR 0.75, 95% CI 0.62-0.91, p < 0.001). Bulbar muscle weakness (p = 0.006) and time to peak limb weakness ≤ 5 days (p < 0.001) were also found to be significantly associated with the need for prolonged mechanical ventilation (> 15 days).

CONCLUSIONBulbar weakness and time to peak limb weakness ≤ 5 days were able to predict respiratory insufficiency and the need for prolonged mechanical ventilation in patients with GBS.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Guillain-Barre Syndrome ; diagnosis ; therapy ; Humans ; Male ; Middle Aged ; Muscle Weakness ; complications ; Odds Ratio ; Regression Analysis ; Respiration, Artificial ; Respiratory Insufficiency ; therapy ; Retrospective Studies ; Tertiary Care Centers ; Young Adult

OBJECTIVETo investigate the clinical characteristics, treatment and prognosis of Guillain-Barre syndrome (GBS) after allogeneic hematopoietic stem cell transplantation (allo-HSCT).

METHODSTwo cases with GBS after allo-HSCT were admitted to our hospital and a review of literatures concerning GBS developed after allo-HSCT. The clinical characteristics, treatment and prognosis were investigated.

RESULTSTwo patients experienced sensory disturbance and progressive muscle weakness 2 months after HSCT. The diagnosis of GBS was established after cranial MRI, lumbar puncture and EMG. Both patients died of GBS progression even after the treatment of steroid, intravenous immunoglobulin (IVIG) and plasma exchange.

CONCLUSIONGBS was a rare complication after allo-HSCT. The common clinical practices in treating GBS included IVIG and plasma exchange. Due to the primary malignant disease and low immunity posttransplant, infection, GVHD and other complications, prognosis of GBS was poor with high mortality.

Adult ; Guillain-Barre Syndrome ; etiology ; Hematopoietic Stem Cell Transplantation ; adverse effects ; Humans ; Male ; Postoperative Complications ; Prognosis ; Young Adult

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.
Acute Disease ; Electromyography ; Guillain-Barre Syndrome/*diagnosis/drug therapy/etiology ; Hepatitis A/complications/*diagnosis ; Humans ; Immunoglobulins, Intravenous/therapeutic use ; Male ; Young Adult

Biomarkers ; blood ; Brain ; diagnostic imaging ; pathology ; Brain Edema ; etiology ; pathology ; Child ; Diagnosis, Differential ; Electroencephalography ; Guillain-Barre Syndrome ; complications ; diagnosis ; therapy ; Humans ; Magnetic Resonance Imaging ; Male ; Posterior Leukoencephalopathy Syndrome ; complications ; diagnosis ; therapy ; Radiography

Autoimmune polyendocrinopathy syndrome is a heterogeneous group of rare diseases characterized by autoimmune activity against more than one endocrine organ, although non-endocrine organs can be affected. We present a case of autoimmune polyendocrinopathy syndrome type 2 in a 42-year-old woman with Guillain-Barre syndrome and scleroderma. This combination of syndromes has not been reported and warrants further investigation.
Adult ; Female ; Guillain-Barre Syndrome ; complications ; diagnosis ; Humans ; Polyendocrinopathies, Autoimmune ; diagnosis ; Scleroderma, Diffuse ; complications ; diagnosis