scholarly journals Case Series: A case of familial thymomatous myasthenia gravis in a family of three male brothers

2020 ◽  
Vol 2020 (9) ◽  
Author(s):  
Sheref A Elseidy ◽  
Ahmed Abd Allah Abd Alkader ◽  
Haitham Hassan Naserallah ◽  
Ahmed Khaled Awad

Abstract Myasthenia gravis (MG) is an autoimmune disease that occurs as a consequence of anti-acetylcholine (Ach) antibodies specifically targeting postsynaptic Ach receptors (AchR). This leads to the evolution of the classic symptoms of the disease, which range from mild symptoms of diplopia, muscle fatigue with repetitive movement up to severe affection of the respiratory muscle. The disease can occur as an isolated finding or co-exist with a concomitant thymic tumor or hyperplasia. Careful diagnosis is crucial for the development of the management plan. Nearly 10–15% of MG cases coexist with a thymic pathology and in these cases, surgical resection leads to the resolution of symptoms. Although thymomatous MG occurrence is non-heritable, its polygenic nature accounts for its rare familial variant. In this case, we report a family of three brothers with familial thymomatous MG who underwent thymectomy and improved after thymic surgical resection. Myasthenia gravis can occur as an isolated finding or as an association of thymic pathology. Careful discrimination between the two should be made for the elaboration of a management plan. Familial variant thymomatous myasthenia gravis is exceedingly rare. A familial survey is crucial for its management.

2019 ◽  
pp. 112067211986760
Author(s):  
Logeswari Krishna ◽  
Nor Fadzillah Abdul Jalil ◽  
Pooi Wah Lott ◽  
Sujaya Singh ◽  
May May Choo

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.


Blood ◽  
1997 ◽  
Vol 89 (9) ◽  
pp. 3287-3295 ◽  
Author(s):  
Nathalie Moulian ◽  
Jocelyne Bidault ◽  
Frédérique Truffault ◽  
Ana Maria Yamamoto ◽  
Philippe Levasseur ◽  
...  

Abstract Myasthenia gravis (MG) is a human autoimmune disease mediated by anti-acetylcholine receptor (AChR) antibodies. The thymus is probably the site where the autoimmune response is triggered and maintained. Recent reports have linked various autoimmune disease with defective Fas expression. We thus analyzed Fas expression in thymocytes and peripheral blood lymphocytes (PBL) from MG patients. The proportion of a thymocyte subpopulation with strong Fas expression (Fashi) was markedly enhanced in MG patients with anti-AChR antibodies (P < .0003, compared with controls). In this group of patients, the proportion of CD4+Fashi and CD4+CD8+Fashi thymocytes were significantly increased (P < .002 for both subsets). Fashi thymocytes were enriched in activated cells and showed intermediate CD3 expression. They were preferentially Vβ5.1-expressing cells, previously shown to be enriched in potentially autoreactive cells. The proliferative response of thymocytes from MG patients to peptides from the AChR was abolished after depletion of Fashi cells. Fashi thymocytes were sensitive to an agonistic anti-Fas antibody. In peripheral blood, Fashi lymphocytes proportion was not significantly modified in MG patients whatever their anti-AChR antibody titer, compared with controls. Altogether, these results indicate that Fashi thymocytes, which accumulate in MG patients with anti-AChR antibodies, could be involved in the autoimmune response that targets the AChR.


Author(s):  
Jaouad Yousfi ◽  
Fatimazahra Bensalek ◽  
Mouna Zahlane ◽  
Laila Benjilali ◽  
Lamiaa Essaadouni

Introduction: Myasthenia gravis is a rare autoimmune disease caused by autoantibodies directed against the synapses of the neuromuscular junction. Patient and methods: We report the case of a young patient with myasthenia gravis associated with Hodgkin's lymphoma. Results: A 22-year-old patient presented with a 2-month history of severe weakness associated with muscle fatigability and intermittent ptosis without dysphonia or respiratory signs. Clinical examination revealed generalized myasthenia. The EMG did not show post-synaptic block, and anti-acetylcholine receptor antibodies were elevated at 3 nmol/l (normal ?0.3 nmol/l). CT of the thorax showed an anterior medial mass. Immunohistochemistry of the mass revealed mixed cellularity Hodgkin’s lymphoma. Conclusion: The association of lymphomas with myasthenia gravis has been rarely reported.


2019 ◽  
Author(s):  
F Li ◽  
Z Li ◽  
D Uluk ◽  
G Bauer ◽  
A Elsner ◽  
...  

2021 ◽  
Vol 14 (3) ◽  
pp. e240460
Author(s):  
Neal Rajan Godse ◽  
Giuseppe Vittorio Staltari ◽  
Katherine Doeden ◽  
Grant Shale Gillman

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.


2021 ◽  
Vol 23 ◽  
pp. 100332 ◽  
Author(s):  
Fitri Octaviana ◽  
Hardito Puspo Yugo ◽  
Ahmad Yanuar Safri ◽  
Luh Ari Indrawati ◽  
Winnugroho Wiratman ◽  
...  

Author(s):  
Sven Županić ◽  
Martina Perić Šitum ◽  
Maja Majdak ◽  
Mirna Karakaš ◽  
Silvio Bašić ◽  
...  

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