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Ice pack test-an useful bedside test to diagnose myasthenia gravis

Cheo SW, Low QJ, Mow WC, Chia YK

QJM, 2019 May 01;112(5):381-382.
PMID: 30517761 DOI: 10.1093/qjmed/hcy284
Matched MeSH terms: Myasthenia Gravis/diagnosis*
Silent microaspirations: The forerunner to the diagnosis of bulbar onset myasthenia gravis in a young woman

Tan TL, Tan HJ, Cheah CF, Kumaresh R, Azzahra NA

Med J Malaysia, 2020 05;75(3):295-297.
PMID: 32467548

Recurrent pneumonia warrants a diligent work-up to identify the underlying cause that perpetuates the disease process. Insidious bulbar dysfunction is arguably the most devastating as it would be diagnosed late after significant pulmonary complications due to chronic micro-aspiration. Bulbar disorder should be considered as the potential aetiology of recurrent pulmonary infections in the young population after excluding immunodeficiency disorder and respiratory anatomical anomaly. This report illustrates a rare case of bulbar onset myasthenia gravis which manifested as focal bronchiolectasis due to recurrent undiagnosed aspiration pneumonia three years earlier. Absence of hallmark features of Myasthenia Gravis (MG) such as ptosis, opthalmoplegia and proximal muscle weakness contributed to the diagnostic delay and challenges in this case. The diagnosis was established with the collaboration of multidisciplinary teams. Subsequent correct therapeutic interventions resulted in remarkable recovery in functional status and prevented her from further aspiration in the long run.

Matched MeSH terms: Myasthenia Gravis/diagnosis*
Fulltext Myasthenic Crisis as the First Presentation of Myasthenia Gravis: A Case Report

Payus AO, Leow Wen Hsiang J, Leong JQ, Ibrahim A, Raymond AA

Am J Case Rep, 2021 Jan 20;22:e928419.
PMID: 33468985 DOI: 10.12659/AJCR.928419

BACKGROUND Myasthenic crisis is a condition characterized by the sudden onset of myasthenic weakness involving the respiratory muscles and requires ventilatory support to prevent death. This is a case report of respiratory failure in a 43-year-old man as the first presentation of myasthenia gravis. CASE REPORT A 43-year-old man with underlying hypertension and a lacunar stroke with good muscle-power recovery presented with severe community-acquired pneumonia, complicated with respiratory failure requiring invasive ventilatory support. He responded well to the intravenous antibiotic therapy and after 1 week of treatment, he was hemodynamically stable and his septic parameters improved. However, he persistently failed to maintain adequate spontaneous respiratory effort after the removal of the ventilatory support and had to be reintubated multiple times. There was no other identifiable cause for the worsening respiratory failure. He had no clinical features or muscle weakness suggestive of myasthenia gravis. However, his blood test was positive for serum anti-acetylcholine receptor antibodies and repetitive nerve stimulation tests showed the characteristic decremental response of compound muscle action potential amplitude, in keeping with the diagnosis of myasthenia gravis. He responded well to intravenous immunoglobulin and was discharged with anticholinesterase inhibitors and long-term immunosuppression therapy. CONCLUSIONS This report demonstrates that when patients are admitted to the hospital with acute respiratory failure without any underlying pulmonary disease and with weakness of the respiratory muscles, the diagnosis of myasthenia gravis presenting with a myasthenic crisis should be considered.

Matched MeSH terms: Myasthenia Gravis/diagnosis*
Ocular myasthenia gravis and idiopathic orbital inflammatory disease: double the trouble!

Sharudin SN, Govindasamy G, Mohamad NF, Kanesalingam R, Vasudevan SK

Can J Ophthalmol, 2018 04;53(2):e55-e58.
PMID: 29631841 DOI: 10.1016/j.jcjo.2017.07.024
Matched MeSH terms: Myasthenia Gravis/diagnosis*
Fulltext Case of severe refractory myasthenia gravis in HUKM

Hamizah R, Norlinah MI, Tan HJ, Soehardy Z, Halim AG, Rohana AG, et al.

Med J Malaysia, 2006 Dec;61(5):633-5.
PMID: 17623968 MyJurnal

A 20-year-old girl first notice bilateral ocular muscle weakness in 2001. Two months later, she developed acute muscle paralysis and respiratory failure which required ventilation. Serum anti-acetylcholine receptor antibodies and repetitive nerve stimulation test was positive and consistent with myasthenia gravis (MG). CT scan thorax revealed thymic enlargement and she underwent a video assisted thymectomy (VATS). However, over the next three years, despite maximal doses of various immunosuppressive agents with plasmapheresis and intravenous immunoglobulin, she was admitted with recurrent myasthenic crisis without any obvious precipitant. She was then commenced on mycophenolate mofetil and together with regular plasmapheresis, cyclosporine and prednisolone, her symptoms have finally improved and brought under control.

Matched MeSH terms: Myasthenia Gravis/diagnosis
Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors

Tay CG, Fong CY, Li L, Ganesan V, Teh CM, Gan CS, et al.

J Clin Neurosci, 2020 Feb;72:468-471.
PMID: 31831253 DOI: 10.1016/j.jocn.2019.12.007

Congenital myasthenic syndrome (CMS) is a heterogeneous group of inherited disorder which does not associate with anti-acetylcholine receptor (AChR) antibody. The presence of AChR autoantibody is pathogenic and highly sensitive and specific for autoimmune myasthenia gravis (MG). We describe 2 children from unrelated families who presented with hypotonia, ptosis and fatigability in early infancy with anti-AChR antibodies detected via ELISA on 2 separate occasions in the sera. Both were treated as refractory autoimmune MG due to poor clinical response to acetylcholinesterase inhibitor and immunotherapy. In view of the atypical clinical features, genetic studies of CMS were performed and both were confirmed to have novel pathogenic mutations in the COLQ gene. To the best of our knowledge, the presence of anti-AChR antibody in COLQ-related CMS has never been reported in the literature. The clinical presentation of early onset phenotype, and refractoriness to acetylcholinesterase inhibitor and immunotherapy should prompt CMS as a differential diagnosis.

Matched MeSH terms: Myasthenia Gravis/diagnosis
"Mummy, my eyelids are heavy": A case series of juvenile myasthenia gravis

Krishna L, Abdul Jalil NF, Lott PW, Singh S, Choo MM

Eur J Ophthalmol, 2021 Mar;31(2):NP119-NP122.
PMID: 31390886 DOI: 10.1177/1120672119867605

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.

Matched MeSH terms: Myasthenia Gravis/diagnosis*
Fulltext "Why do I always see double?" A misdiagnosed case of ocular myasthenia gravis for 10 years

Yousuf UA, Yashodhara BM, Thanigasalam T, Ting HS

BMJ Case Rep, 2014 May 02;2014.
PMID: 24792021 DOI: 10.1136/bcr-2013-203488

A 58-year-old man presented with diplopia and partial ptosis for 10 years. It was non-progressive in nature, despite inadequate medical attention the patient received from non-specialists/general practitioners. He did not have fatigability or diurnal variation in weakness and was clinically stable without exacerbations of disease for a decade. He did not have features of Graves's disease, oculopharyngeal dystrophy, cranial nerve paralysis, polymyositis and stroke. The possibility of an atypical presentation of myasthenia gravis (MG) was considered and the patient was evaluated. Ice pack test was negative, Cogan's lid twitch (CLT) test was positive and high titres of acetylcholine receptor antibodies (AChR Ab) suggestive of MG were found. He was treated accordingly with a very good response.

Matched MeSH terms: Myasthenia Gravis/diagnosis*