“Mummy, my eyelids are heavy”: A case series of juvenile myasthenia gravis

2019 ◽  
pp. 112067211986760
Author(s):  
Logeswari Krishna ◽  
Nor Fadzillah Abdul Jalil ◽  
Pooi Wah Lott ◽  
Sujaya Singh ◽  
May May Choo
Keyword(s):  
Myasthenia Gravis ◽  
Case Series ◽  
Tertiary Centre ◽  
Ocular Symptoms ◽  
Ocular Myasthenia Gravis ◽  
Life Threatening ◽  
Receptor Antibodies ◽  
Juvenile Myasthenia Gravis ◽  
Anti Acetylcholine ◽  
Second Twin

Purpose: To report three cases of juvenile myasthenia gravis aged between 18 and 24 months with ocular symptoms as their first presentation. Method: A case series. Results: We present a case series of juvenile myasthenia gravis in a tertiary centre in Malaysia. Two of the three cases consist of a pair of twins who presented with ptosis of bilateral eyes; the first twin presented 4 months later than the second twin. These two cases were positive for anti-acetylcholine receptor antibodies and had generalized myasthenia gravis, whereas the other case was negative for receptor antibodies and was purely ocular myasthenia gravis. Conclusion: Juvenile myasthenia gravis is relatively rare in toddlers. Early diagnosis and commencement of treatment is important to slow the progression of the disease and avoiding life-threatening events.

scholarly journals Correlation of anti-acetylcholine receptor antibody levels and long-term outcomes of juvenile myasthenia gravis in Taiwan: a case control study

2019 ◽  
Author(s):  
cheng che chou ◽  
I Chen Su ◽  
I Jun Chou ◽  
Jainn Jim LIN ◽  
Shih Yun Lan ◽  
...  
Keyword(s):  
Complete Remission ◽  
Myasthenia Gravis ◽  
Acetylcholine Receptor ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
Symptom Remission ◽  
Receptor Antibodies ◽  
Juvenile Myasthenia Gravis ◽  
Anti Acetylcholine

Abstract Background Myasthenia gravis is the most common disease affecting the neuromuscular junction. The most common etiology among patients with juvenile myasthenia gravis is the production of antibodies against the acetylcholine receptor. However, the clinical outcome in relation to serum levels of anti-acetylcholine receptor antibodies in juvenile myasthenia gravis has rarely been discussed. We aimed to analyze the correlation between the presence of anti-acetylcholine receptor antibodies and outcome in juvenile myasthenia gravis. Methods Patients diagnosed with juvenile myasthenia gravis younger than of 20 years of age were retrospectively recruited from January 1995 to February 2017 in a tertiary referral medical center. According to the Myasthenia Gravis Foundation of America outcome scale, the primary outcome was complete symptom remission and cessation of medications for at least 1 year measured 2 years after diagnosis. Secondary outcome was complete symptom remission at the last outpatient clinic. Results A total of 54 patients were followed up for over 2 years. Nine patients (9/54, 16.7%) achieved complete remission without medication use at two years after diagnosis. Thirteen (24.1%) patients achieved complete remission during longer follow-up periods. Those with negative anti-acetylcholine receptor antibodies were more likely to achieve complete remission at 2 years (6/15 [40%] vs. 3/39 [7.7%], 95% Confidence interval [CI] 1.670 to 38.323) and at the last outpatient clinic follow-up (8/15 [53.3%] vs. 5/39 [12.8%], 95% CI 2.367 to 20.704). Thirteen patients with comorbid autoimmune thyroid diseases were older than those without disease (11.8 ± 5.8 years old vs. 8.0 ± 6.3 years old, 95% CI 0.018 to 7.33). Moreover, patients negative for anti-acetylcholine receptor antibodies were less likely comorbid with autoimmune thyroid disease (1/35 [2.9%] vs. 12/71 [16.9%], 95% CI 0.018 to 1.161). Conclusions Juvenile myasthenia gravis patients without anti-acetylcholine antibodies exhibited significantly increased complete remission rates and a reduced likelihood of comorbid autoimmune thyroid diseases compared with those with anti-acetylcholine receptor antibodies among Chinese.

scholarly journals Juvenile Myasthenia Gravis: A Paediatric Perspective

2011 ◽  
Vol 2011 ◽  
pp. 1-7 ◽  
Author(s):  
Maria F. Finnis ◽  
Sandeep Jayawant
Keyword(s):  
Myasthenia Gravis ◽  
Treatment Options ◽  
Rare Condition ◽  
Postsynaptic Membrane ◽  
Myasthenic Crisis ◽  
Developmental Needs ◽  
Ocular Symptoms ◽  
History Of ◽  
Receptor Antibodies ◽  
Juvenile Myasthenia Gravis

Myasthenia gravis (MG) is an autoimmune disease in which antibodies are directed against the postsynaptic membrane of the neuromuscular junction, resulting in muscle weakness and fatigability. Juvenile myasthenia gravis (JMG) is a rare condition of childhood and has many clinical features that are distinct from adult MG. Prepubertal children in particular have a higher prevalence of isolated ocular symptoms, lower frequency of acetylcholine receptor antibodies, and a higher probability of achieving remission. Diagnosis in young children can be complicated by the need to differentiate from congenital myasthenic syndromes, which do not have an autoimmune basis. Treatment commonly includes anticholinesterases, corticosteroids with or without steroid-sparing agents, and newer immune modulating agents. Plasma exchange and intravenous immunoglobulin (IVIG) are effective in preparation for surgery and in treatment of myasthenic crisis. Thymectomy increases remission rates. Diagnosis and management of children with JMG should take account of their developmental needs, natural history of the condition, and side-effect profiles of treatment options.

scholarly journals Correlation of anti-acetylcholine receptor antibody levels and long-term outcomes of juvenile myasthenia gravis in Taiwan: a case control study

2019 ◽  
Author(s):  
cheng che chou ◽  
I Chen Su ◽  
I Jun Chou ◽  
Jainn Jim LIN ◽  
Shih Yun Lan ◽  
...  
Keyword(s):  
Complete Remission ◽  
Myasthenia Gravis ◽  
Acetylcholine Receptor ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
Symptom Remission ◽  
Receptor Antibodies ◽  
Juvenile Myasthenia Gravis ◽  
Anti Acetylcholine

Abstract Background Myasthenia gravis is the most common disease affecting the neuromuscular junction. The most common etiology among patients with juvenile myasthenia gravis is the production of antibodies against the acetylcholine receptor. However, the clinical outcome in relation to serum levels of anti-acetylcholine receptor antibodies in juvenile myasthenia gravis has rarely been discussed. We aimed to analyze the correlation between the presence of anti-acetylcholine receptor antibodies and outcome in juvenile myasthenia gravis. Methods Patients diagnosed with juvenile myasthenia gravis younger than of 20 years of age were retrospectively recruited from January 1995 to February 2017 in a tertiary referral medical center. According to the Myasthenia Gravis Foundation of America outcome scale, the primary outcome was complete symptom remission and cessation of medications for at least 1 year measured 2 years after diagnosis. Secondary outcome was complete symptom remission at the last outpatient clinic. Results A total of 54 patients were followed up for over 2 years. Nine patients (9/54, 16.7%) achieved complete remission without medication use at two years after diagnosis. Thirteen (24.1%) patients achieved complete remission during longer follow-up periods. Those with negative anti-acetylcholine receptor antibodies were more likely to achieve complete remission at 2 years (6/15 [40%] vs. 3/39 [7.7%], 95% Confidence interval [CI] 1.670 to 38.323) and at the last outpatient clinic follow-up (8/15 [53.3%] vs. 5/39 [12.8%], 95% CI 2.367 to 20.704). Thirteen patients with comorbid autoimmune thyroid diseases were older than those without disease (11.8 ± 5.8 years old vs. 8.0 ± 6.3 years old, 95% CI 0.018 to 7.33). Moreover, patients negative for anti-acetylcholine receptor antibodies were less likely comorbid with autoimmune thyroid disease (1/35 [2.9%] vs. 12/71 [16.9%], 95% CI 0.018 to 1.161). Conclusions Juvenile myasthenia gravis patients without anti-acetylcholine antibodies exhibited significantly increased complete remission rates and a reduced likelihood of comorbid autoimmune thyroid diseases compared with those with anti-acetylcholine receptor antibodies.

scholarly journals Confounding case of seromucinous hamartoma

2021 ◽  
Vol 14 (3) ◽  
pp. e240460
Author(s):  
Neal Rajan Godse ◽  
Giuseppe Vittorio Staltari ◽  
Katherine Doeden ◽  
Grant Shale Gillman
Keyword(s):  
Myasthenia Gravis ◽  
Vocal Fold ◽  
Cranial Nerves ◽  
Vocal Fold Paralysis ◽  
Seromucinous Hamartoma ◽  
Cranial Neuropathies ◽  
Receptor Antibodies ◽  
Bony Erosion ◽  
Ct And Mri ◽  
Anti Acetylcholine

A 67-year-old man presented with progressive diplopia. On evaluation, he was noted to have bilateral palsies of cranial nerves III, IV and VI as well as a unilateral right true vocal fold paralysis. CT and MRI studies demonstrated a T2-bright left ethmoid mass with no evidence of bony erosion. Direct visualisation demonstrated a polypoid appearing mass of the left sphenoethmoid recess. Operative biopsy was pursued with final pathology demonstrating benign seromucinous hamartoma. Subsequent blood work demonstrated high titres of anti-acetylcholine receptor antibodies consistent with myasthenia gravis. The patient was started on pyridostigmine with improvement in his ocular cranial neuropathies.

scholarly journals Clinical and therapeutic features of myasthenia gravis in adults based on age at onset

Neurology ◽  
2020 ◽  
Vol 94 (11) ◽  
pp. e1171-e1180 ◽  
Author(s):  
Elena Cortés-Vicente ◽  
Rodrigo Álvarez-Velasco ◽  
Sonia Segovia ◽  
Carmen Paradas ◽  
Carlos Casasnovas ◽  
...  
Keyword(s):  
Myasthenia Gravis ◽  
Early Onset ◽  
Late Onset ◽  
Age At Onset ◽  
Neuromuscular Diseases ◽  
Cross Sectional ◽  
Life Threatening ◽  
Onset Group ◽  
Anti Acetylcholine

ObjectiveTo describe the characteristics of patients with very-late-onset myasthenia gravis (MG).MethodsThis observational cross-sectional multicenter study was based on information in the neurologist-driven Spanish Registry of Neuromuscular Diseases (NMD-ES). All patients were >18 years of age at onset of MG and onset occurred between 2000 and 2016 in all cases. Patients were classified into 3 age subgroups: early-onset MG (age at onset <50 years), late-onset MG (onset ≥50 and <65 years), and very-late-onset MG (onset ≥65 years). Demographic, immunologic, clinical, and therapeutic data were reviewed.ResultsA total of 939 patients from 15 hospitals were included: 288 (30.7%) had early-onset MG, 227 (24.2%) late-onset MG, and 424 (45.2%) very-late-onset MG. The mean follow-up was 9.1 years (SD 4.3). Patients with late onset and very late onset were more frequently men (p < 0.0001). Compared to the early-onset and late-onset groups, in the very-late-onset group, the presence of anti–acetylcholine receptor (anti-AChR) antibodies (p < 0.0001) was higher and fewer patients had thymoma (p < 0.0001). Late-onset MG and very-late-onset MG groups more frequently had ocular MG, both at onset (<0.0001) and at maximal worsening (p = 0.001). Although the very-late-onset group presented more life-threatening events (Myasthenia Gravis Foundation of America IVB and V) at onset (p = 0.002), they required fewer drugs (p < 0.0001) and were less frequently drug-refractory (p < 0.0001).ConclusionsPatients with MG are primarily ≥65 years of age with anti-AChR antibodies and no thymoma. Although patients with very-late-onset MG may present life-threatening events at onset, they achieve a good outcome with fewer immunosuppressants when diagnosed and treated properly.

Anti-acetylcholine receptor antibodies in neonatal myasthenia gravis: Heterogeneity and pathogenic significance

1991 ◽  
Vol 4 (2) ◽  
pp. 185-195 ◽  
Author(s):  
Bruno Eymard ◽  
Béatrice Vernet-der Garabedian ◽  
Sonia Berrih-Aknin ◽  
Claude Pannier ◽  
Jean-François Bach ◽  
...  
Keyword(s):  
Myasthenia Gravis ◽  
Acetylcholine Receptor ◽  
Receptor Antibodies ◽  
Anti Acetylcholine
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