OBJECTIVE: To study the clinical features of children with Guillain-Barré syndrome (GBS) and the significance of Brighton criteria in childhood GBS. METHODS: A retrospective analysis was performed on the medical data of 72 children with GBS. Brighton criteria were used for the grading of diagnostic certainty (level 1 as the highest level, and level 4 as the lowest level). A Spearman's rank correlation analysis was used to evaluate the correlation of auxiliary examinations with the level of diagnostic certainty of Brighton criteria. RESULTS: A total of 72 children with GBS were enrolled, with a mean age of onset of (98±32) months. All children (100%, 72/72) had weakness of bilateral limbs and disappearance or reduction of tendon reflex, and limb weakness reached the highest level of severity within 4 weeks. Of all the 72 children, 68 (94%) had positive results of neural electrophysiological examination and 51 (71%) had positive results of cerebrospinal fluid (CSF) examination, and the positive rate of neural electrophysiological examination was significantly higher than that of CSF examination ( CONCLUSIONS Most of the children with GBS meet Brighton criteria level 1, and the positive results of CSF examination and neural electrophysiological examination play an important role in improving the level of diagnostic certainty of Brighton criteria. Neural electrophysiological examination has a higher positive rate than CSF examination in the early stage of the disease.
Child ; Child, Preschool ; Extremities ; Guillain-Barre Syndrome/diagnosis* ; Humans ; Muscle Weakness ; Physical Examination ; Retrospective Studies

Swallowing can be affected by a variety of systemic diseases. The etiology of dysphagia in the geriatric population is usually overlooked due mainly to a presumed diagnosis of presbyphagia or difficulty in revealing the direct cause. On the other hand, dysphagia can be a meaningful clinical sign of premalignant systemic disease. A 78-year-old man, without any prior medical or family history, was admitted with the chief complaint of dysphagia with recent aspiration pneumonia. Instrumental swallowing tests revealed a severe degree of dysphagia due to decreased laryngopharyngeal sensation and weakness of the pharyngeal constrictor muscles. Extensive workup, including electromyography and laboratory tests, revealed severe sensorimotor peripheral polyneuropathy related to monoclonal gammopathy. Monoclonal gammopathy of undetermined significance (MGUS) is a premalignant precursor of multiple myeloma, which is characterized by the proliferation of monoclonal proteins. These conditions are often associated with peripheral polyneuropathy, ataxia, and sometimes even muscle weakness. Although dysphagia can occur in other systemic disorders, such as vasculitis or paraneoplastic syndrome-related malignancies, there are few reports of dysphagia related to MGUS. The patient was followed up for three years. The MGUS showed no further progression, but the patient showed no improvement, indicating a protracted clinical course and poor prognosis when dysphagia is related to MGUS.
Aged ; Ataxia ; Deglutition ; Deglutition Disorders ; Diagnosis ; Electromyography ; Hand ; Humans ; Monoclonal Gammopathy of Undetermined Significance ; Multiple Myeloma ; Muscle Weakness ; Muscles ; Paraproteinemias ; Pneumonia, Aspiration ; Polyneuropathies ; Prognosis ; Sensation ; Vasculitis

BACKGROUND: Although a common shoulder disease, there are no accepted classification criteria for frozen shoulder (FS). This study therefore aimed to evaluate the accuracy of the conventionally used FS classification system. METHODS: Primary FS patients (n=168) who visited our clinic from January 2010 to July 2015 were included in the study. After confirming restrictions of the glenohumeral joint motion and absence of history of systemic disease, trauma, shoulder surgery, shoulder muscle weakness, or specific x-ray abnormalities, the Zuckerman and Rokito's classification was employed for diagnosing primary FS. Following clinical diagnosis, each patient underwent a shoulder magnetic resonance imaging (MRI) and blood tests (lipid profile, glucose, hemoglobin A1c, and thyroid function). Based on the results of the blood tests and MRIs, the patients were reclassified, using the criteria proposed by Zuckerman and Rokito. RESULTS: New diagnoses were ascertained including blood test results (16 patients with diabetes, 43 with thyroid abnormalities, and 149 with dyslipidemia), and MRI revealed intra-articular lesions in 81 patients (48.2%). After re-categorization based on the above findings, only 5 patients (3.0%) were classified having primary FS. The remaining 163 patients (97.0%) had either undiagnosed systemic or intrinsic abnormalities (89 patients), whereas 74 patients had both. CONCLUSIONS: These findings demonstrate that most patients clinically diagnosed with primary FS had undiagnosed systemic abnormalities and/or intra-articular pathologies. Therefore, a modification of the Zuckerman and Rokito's classification system for FS may be required to include the frequent combinations, rather than having a separate representation of systemic abnormalities and intrinsic causes.
Bursitis ; Classification ; Diagnosis ; Glucose ; Hematologic Tests ; Humans ; Magnetic Resonance Imaging ; Muscle Weakness ; Pathology ; Shoulder ; Shoulder Joint ; Thyroid Gland

Type 2 diabetes mellitus (DM) is commonly linked to muscle weakness and metabolic abnormalities which increase healthcare costs. The study was undertaken to investigate if low handgrip strength, as a marker of muscle weakness, is associated with hyperglycemia and/or DM in Brazilian subjects. In a cross-sectional design, 415 individuals of both sexes (46.7% male) were interviewed by a questionnaire and the DM diagnostic was self-reported. Anthropometric measurements, such as weight, height, body mass index (BMI), arm circumference, mid-arm and calf circumference and handgrip strength, were obtained by trained nutritionists. Blood glucose concentrations were determined by portable monitor analysis. Student's t-test was applied to compare DM cases with non-diabetic individuals, and logistic regression analysis was performed to verify the odds for becoming diabetic or having altered glycemia and p < 0.05 was considered as significant. From 415 subjects, 9.2% (n = 35) were classified as DM. DM patients had significantly higher age, BMI, casual glycemia and lower handgrip strength and normalized (to body weight) handgrip strength (NHS) when compared with non-diabetic patients. Individuals with low NHS have 2.7 odds ratio to DM without adjustment for covariate (crude model, p = 0.006) and have 2.7 times higher the likelihood of DM than individuals with high NHS after adjusting for age (model 1, p = 0.006); however, this association disappeared after further adjusting for sex. In conclusion, low handgrip strength normalized or not to body weight, was not associated with hyperglycemia and DM diagnosis.
Arm ; Blood Glucose ; Body Height ; Body Weight ; Diabetes Mellitus ; Diabetes Mellitus, Type 2* ; Diagnosis ; Hand Strength ; Health Care Costs ; Humans ; Hyperglycemia* ; Logistic Models ; Muscle Weakness ; Nutritionists ; Odds Ratio

Compressive femoral neuropathy is a disabling condition accompanied by difficulty in hip flexion and knee extension. It may result from retroperitoneal hematoma or bleeding, or from complications associated with pelvic, hip surgery, and renal transplants. A 55-year-old female with autosomal dominant polycystic kidney disease presented with proximal muscle weakness in lower extremities. The patient experienced recurrent renal cyst infection, with aggravated weakness during each event. Electromyography and nerve conduction study revealed bilateral femoral neuropathy. Computed tomography and magnetic resonance images were added to further identify the cause. As a result, a diagnosis of femoral neuropathy caused by enlarged polycystic kidney was made. Cyst infection was managed with antibiotics. Renal function was maintained by frequent regular hemodialysis. While avoiding activities that may increase abdominal pressure, rehabilitation exercises were provided. Motor strength in hip flexion and knee extension improved, and was confirmed via electrodiagnostic studies.
Anti-Bacterial Agents ; Diagnosis ; Electromyography ; Exercise ; Female ; Femoral Neuropathy* ; Hematoma ; Hemorrhage ; Hip ; Humans ; Knee ; Lower Extremity ; Middle Aged ; Muscle Weakness ; Neural Conduction ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Dominant* ; Rehabilitation ; Renal Dialysis

Collagen-VI-related myopathies are caused by mutations in the COL6A1, COL6A2, and COL6A3 and are known to have a wide phenotypic spectrum, including Bethlem myopathy, Ullrich congenital muscular dystrophy, intermediate phenotype, and limb-girdle muscular dystrophy. These patients present with joint hyperextensibility and/or contractures as well as skin changes and muscle weakness, and so clinicians need to notice those extramuscular symptoms in order to achieve a correct diagnosis. We describe the clinical, pathological, and radiological features in a family with Bethlem myopathy caused by a COL6A1 mutation.
Contracture ; Diagnosis ; Humans ; Joints ; Muscle Weakness ; Muscular Diseases ; Muscular Dystrophies ; Muscular Dystrophies, Limb-Girdle ; Phenotype ; Skin

Motor neuron diseases (MNDs) refer to a heterogeneous group of progressive neurologic disorders caused by degeneration of motor neurons. The diseases affect either the upper motor neurons, lower motor neurons, or both, and are characterized by weakness, atrophy, fasciculation, spasticity, and respiratory failure. We report a case of a 61-year-old male patient with no past history of cardiovascular or pulmonary disease, who presented with only dyspnea, and no indication of any other symptom such as muscle weakness, atrophy, or bulbar dysfunction. Neuromuscular conduction study, including a study of the phrenic nerve, confirmed the diagnosis of MND. The patient greatly improved giving respiratory assistance at night, using a noninvasive ventilator. This case indicates that MNDs should be considered as differential diagnoses for patients showing acute respiratory failure of unknown causes. This report will aid in the prompt diagnosis and treatment of MNDs.
Atrophy ; Diagnosis ; Diagnosis, Differential ; Dyspnea ; Fasciculation ; Humans ; Lung Diseases ; Male ; Middle Aged ; Motor Neuron Disease* ; Motor Neurons* ; Muscle Spasticity ; Muscle Weakness ; Nervous System Diseases ; Phrenic Nerve ; Respiration, Artificial ; Respiratory Insufficiency* ; Ventilators, Mechanical

Eosinophilic granulomatosis with polyangiitis (EGPA) is an immune related systemic disease that is caused by vasculitis affecting multiple organ systems. It is characterized by asthma, fever, eosinophilia, cardiac problems, renal injury, and peripheral neuropathy. In this report, we describe a patient with EGPA with concurrent cerebral infarction and acute polyneuropathy mimicking a Guillain-Barre syndrome (GBS). A 46-year-old man presented with rapidly progressing gait disturbance, muscular weakness, and tingling sensation in all four limbs. A nerve conduction study revealed sensorimotor polyneuropathy in all four limbs, and a test of the cerebrospinal fluid showed an albumin-cytologic dissociation. In addition, brain magnetic resonance imaging (MRI) using fluid-attenuated inversion recovery and diffusion weighted MRI revealed high signal intensity lesions with gadolinium enhancement on T1-weighted MRI in the right caudate nucleus. After performing laboratory tests, paranasal sinus computed tomography, and a nasal smear, the patient was diagnosed with EGPA and treated with high dose glucocorticoid and oral cyclophosphamide. In conclusion, our findings indicate that a diagnosis of EGPA should be considered when a patient presents with rapidly progressing polyneuropathy mimicking a GBS along with unusual systemic symptoms or brain lesions.
Asthma ; Brain ; Caudate Nucleus ; Cerebral Infarction ; Cerebrospinal Fluid ; Churg-Strauss Syndrome ; Cyclophosphamide ; Diagnosis ; Diffusion Magnetic Resonance Imaging ; Eosinophilia ; Eosinophils* ; Extremities ; Fever ; Gadolinium ; Gait ; Granulomatosis with Polyangiitis* ; Guillain-Barre Syndrome ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Muscle Weakness ; Neural Conduction ; Peripheral Nervous System Diseases ; Polyneuropathies* ; Sensation ; Vasculitis ; Vasculitis, Central Nervous System*

A boy aged 11 years was admitted due to intermittent weakness and difficulty in walking for 6 years, and hepatomegaly, glycopenia and unconsciousness for 4 years. The laboratory examinations showed severe metabolic acidosis, hypoglycemia, and abnormal liver function. CT scan showed marked liver enlargement with fat density shadow. The boy was given fluid infusion, correction of acidosis, intravenous injection of glucose, L-carnitine, compound vitamin B, and coenzyme Q10, but he was in a persistent coma and it was difficult to correct refractory metabolic acidosis and hypoglycemia. The boy died. Blood and urinary organic acid screening and gene detection confirmed that the boy had late-onset glutaric aciduria type II (GAIIc) caused by electron-transferring-flavoprotein dehydrogenase (ETFDH) gene defect. GAIIc is an inherited metabolic disease with a low incidence, resulting in a high misdiagnosis rate. GAIIc should be considered for children with recurrent weakness or reduced activity endurance, hypoglycemia, and marked liver enlargement with abnormal liver function. Urinary organic acid analysis and blood tandem mass spectrometry can help with the early diagnosis of GAIIc, and ETFDH gene analysis helps to make a confirmed diagnosis.
Child ; Hepatomegaly ; etiology ; Humans ; Hypoglycemia ; etiology ; Male ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency ; diagnosis ; Muscle Weakness ; etiology

Primary Sjögren's syndrome (pSS) is characterized by lymphocytic infiltration of the exocrine glands resulting in decreased saliva and tear production. It uncommonly involves the kidneys in various forms, including tubulointerstitial nephritis, renal tubular acidosis, Fanconi syndrome, and rarely glomerulonephritis. Its clinical symptoms include muscle weakness, periodic paralysis, and bone pain due to metabolic acidosis and electrolyte imbalance. Herein, we describe the cases of two women with pSS whose presenting symptoms involve the kidneys. They had hypokalemia and normal anion gap metabolic acidosis due to distal renal tubular acidosis and positive anti-SS-A and anti-SS-B autoantibodies. Since one of them experienced femoral fracture due to osteomalacia secondary to renal tubular acidosis, an earlier diagnosis of pSS is important in preventing serious complications.
Acid-Base Equilibrium ; Acidosis ; Acidosis, Renal Tubular* ; Autoantibodies ; Diagnosis ; Exocrine Glands ; Fanconi Syndrome ; Female ; Femoral Fractures ; Glomerulonephritis ; Humans ; Hypokalemia ; Kidney ; Muscle Weakness ; Nephritis, Interstitial ; Osteomalacia ; Paralysis ; Saliva ; Tears