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

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.

Hypophosphataemic Rickets due to lung Teratoma: a case report

“…The IPT diagnosis is hard because it has several differential diagnoses (such as thyroid, or parathyroid adenoma, thymic carcinoma, and thymoma) and also it is slow growing with non-specific manifestation or test. In our case, the patient had parathyroid adenoma and the involved side of parathyroid was resected (12,13). Our patient was diagnosed as hypophosphatemic rickets due to the low levels of serum phosphate and laboratory findings that could show this diagnosis.…”

Right upper lobe intrapulmonary mature cystic teratoma. An unusual location with unusual associations and a review of the literature

“…Most teratomas are benign and slowly growing, yet with no relationship between the size of the teratoma and malignancy [6] , [8] . Although teratomas may be present in any age group, IPTs usually affect patients in their first and second decades of life.…”

“…IPTs manifest equally in males and females, unlike malignant mediastinal germ cell tumors, which affect males more than females [6] . The diagnosis of IPTs is challenging due to several differential diagnoses, including thymoma, thymic carcinoma, thyroid, or parathyroid neoplasm [8] . Furthermore, symptoms of IPTs can vary according to multiple factors, including their size, location, and tissue type of which they are comprised [9] .…”

Thymus Surgery Prospectives and Perspectives in Myasthenia Gravis

“…Some studies support the idea that thymectomy is more effective in the early stages of MG. This fact is due to the better remission rates of MG in patients with early stages of the disease [ 67 ].…”

“…Patients with MG scheduled for thymectomy should be operated on when the clinical condition is optimal. In the preoperative evaluation stage of patients with MG, the following parameters related to the specifics of the disease must be taken into account: Recent evolution of the disease, Degree of muscle weakness, Drug treatments included in the patient’s therapy at the time of evaluation, Comorbidities, Pulmonary function [ 67 ]. …”