Distal myasthenia gravis: case report

We report the case of a 30-year-old woman with a 7-year history of distal lower limbs weakness that evolved to upper limbs weakness. On neurological examination, she presented normal cranial nerves, bilateral quadriceps and feet interosseous atrophy, normal muscular tonus, muscular weakness more severe in dorsal feet interosseous and anterior tibial, and decreased deep tendon reflexes. Repetitive nerve stimulation of the ulnar and fibular nerves showed a decrement greater than 10% of the compound muscle action potential. Antibody against acetylcholine receptor titer was positive. Computed tomography scan of the thorax was normal. Thyroid function tests showed evidence of hyperthyroidism. Distal muscular weakness is a rare onset presentation of myasthenia gravis. However, myasthenia gravis must be considered in the differential diagnosis of distal limb weakness.     

Successful treatment of a 2-year-old girl with intractable myasthenia gravis using tacrolimus

We used tacrolimus to successfully treat a patient with childhood-onset oropharyngeal myasthenia gravis (MG). A girl (2 years, 5 months old) with oropharyngeal MG responded partially to treatment including pyridostigmine bromide, intravenous immunoglobulin, and prednisolone (2 mg/kg/day) for 7 weeks, but this resulted in worsening of her eye symptoms. By contrast, tacrolimus at 2 mg/day resulted in complete remission of the MG, which made it possible to reduce the dose of prednisolone. This is a rare report of the use of tacrolimus as an effective treatment for patients with intractable childhood-onset MG.     

Familial myasthenia gravis: a case report in identical twins

To the best of our knowledge this is the seventh case report of monozygotic twins both affected by myasthenia gravis (MG). The monozygotism was proven by sex identity, blood group and HLA determinations ('O' Rh+, A2, A19.2, B40, CW3). One paternal aunt was also affected and the three cases have high titles of anti-acetylcholine receptor antibodies and anti-striated muscle antibodies, which indicate an acquired form of MG. After several myasthenic crises the twins are now doing well with corticosteroid therapy. The paternal aunt has a more benign form of MG, with ocular and limb involvement (grade IIa of Osserman) and was submitted to thymectomy. The authors discuss the use of corticosteroid for the infantile form of MG instead of thymectomy, based on the immaturity of the immune system in the young age. The use of other immunosuppressive drugs is not advisable because of potential hazardous development of neoplasms.     

Infantile myasthenia gravis: report of a case diagnosed clinically

A rare case of infantile myasthenia gravis (congenital type) is reported. The child was 16 months old at the time of the diagnosis, although she presented signs suggestive of the disease since two months earlier. The diagnosis was based solely upon clinical criteria, including immediate response to a therapeutic test with Neostigmine, followed by excellent response to treatment with Mestinon. A review of the different types of myasthenia gravis in infancy is made, with emphasis on the clinical criteria for differential diagnosis of these cases.     

Treatment of myasthenia gravis with mycophenolate mofetil: a case report

We report a patient with myasthenia gravis (MG) who had marked clinical benefit in response to treatment with mycophenolate mofetil as documented by serial quantitative measures of strength and muscle fatigue. Our patient had experienced either adverse side effects or a suboptimal response to the usual immunosuppressive agents used in MG. Mycophenolate mofetil was used in combination with cyclosporine and prednisone and allowed for significant reductions in dosage of these immunosuppressants. We conclude that mycophenolate mofetil deserves further study as a therapeutic agent in MG. In particular, its role as a steroid-sparing agent and as a drug to be used in combination immunotherapy in more severe or refractory cases of MG should be investigated.     

Delayed presentation of invasive thymoma in myasthenia gravis: a case report

Current practice favors imaging of people with myasthenia gravis (MG) at the time of diagnosis to look for evidence of thymoma or thymic hyperplasia. However, there is no evidence to allow any recommendation about repeat imaging in people with normal scans at presentation, and there is little evidence to recommend surgical exploration in such cases. We present a patient with a delayed presentation of invasive thymoma 11 years after a normal thoracic computerized tomography.     

Unusual neurophysiological and immunological findings in myasthenia gravis: a case report

We describe the case of a male patient with ocular myasthenia gravis who developed a diabetic neuropathy similar to chronic inflammatory demyelinating polyradiculoneuropathy associated with transient generalized 'myokymic' discharges and distal weakness. He had antibodies against acetylcholine receptor and GQ1b ganglioside, but not anti-voltage-gated K(+) channel antibodies. Serial electrophysiological and immunological findings showed that diabetes was involved in the immune-mediated mechanism of peripheral neuropathy. We hypothesize that the concomitant appearance of distal motor weakness and decreased compound muscle action potentials upon repetitive nerve stimulation, together with increased distal motor latency and generalized peripheral nerve hyperexcitability, were all related to transient serum positivity to anti-GQ1b antibodies.     

AAEM case report #3: myasthenia gravis.

Reported here are the electrodiagnostic findings in a patient with myasthenia gravis who had dysarthria, dysphagia, and dyspnea. The use of repetitive nerve stimulation and single fiber electromyography studies for the evaluation of patients suspected of myasthenia gravis is reviewed.     

Orbicularis oculi electromyogram in a girl with ocular myasthenia gravis]

A 12-month-old girl with ocular myasthenia gravis was reported. Electromyograms (EMG) of the orbicularis oculi muscle were studied during a period of 16 months. The degree of the waning phenomenon on EMG correlated well with that of her clinical symptoms. The study of post-tetanic exhaustion after repetitive electrical stimulation at 20 Hz for 4 seconds, was the most sensitive technique in the evaluation of the function of neuromuscular junction. EMG showed the waning phenomenon in the initial worsening after a high dose methylprednisolone therapy, and at the symptom-free stage without medication after the steroid therapy. In our patient, orbicularis oculi EMG was useful in the estimation of the severity of ocular myasthenia gravis and the effect of its treatment.     

Immune studies in human immunodeficiency virus infection with myasthenia gravis: a case report

A patient with human immunodeficiency virus infection had cellular and humoral immune responses studied longitudinally from the onset of generalized myasthenia gravis. Progressive decline in CD4+, CD45R+ and CD4+, CDw29+ T-cells, cellular immune responses to alloantigen and mitogen stimulation, and acetylcholine receptor antibody titers were associated with clinical improvement of all myasthenic symptoms.     

Acquired rippling muscle disease associated with mild myasthenia gravis: a case report

Journal of Neurology -     

Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: a case report

Fetal acetylcholine receptor inactivation syndrome is a rare condition occurring in newborns of myasthenic mothers, characterized by bulbar and facial weakness after recovery from the generalized muscle weakness. Antibodies against fetal subunit of acetylcholine receptor seem to have a pathogenetic role leading to long-lasting injury in vulnerable muscle groups. We report a girl, born to a myasthenic mother, who presented with this peculiar phenotype associated with high titers of antibodies specific to the fetal acetylcholine receptor. Although the infant had partial clinical improvement she died prematurely of aspiration pneumonia. We believe that this is a rare but possibly unrecognized condition that should be considered in newborns with persistent myasthenic features even in asymptomatic mothers, and clinicians should consider supportive intervention to avoid fatal complications.     

Lumbar disc herniation associated with scoliosis in a 15-year-old girl: case report

Intervertebral disc herniation is a rare condition in childhood and adolescence, although some cases have already been reported in the literature. We present the case of a 15 year-old-girl with low back pain and scoliosis. She had no previous history of trauma or collagen diseases. MRI showed L4-L5 and L5-S1 disc herniations and no further bone and structural changes. After two level discectomy, pain ceased and scoliosis improved, without further treatment. Based on her evolution and on what has already been reported in literature, we consider that scoliosis associated with disc herniation in young patients is most likely to be only an anthalgic position, not indicative of further structural changes.     

Psychological correlates of myasthenia gravis: a brief report

Myasthenia gravis patients and matched normal controls were assessed on a range of psychological indices; myasthenic patients had higher scores on trait anxiety and suppression of anger. There were no other significant differences between the groups on psychological symptom measures (anxiety, depression or anger) or other trait measures (anger, suppression of anxiety and suppression of depression). It is concluded that trait anxiety and suppression of anger may predispose to myasthenia gravis.     

Malignant catatonia due to anti-NMDA-receptor encephalitis in a 17-year-old girl: case report

Anti-NMDA-Receptor encephalitis is a severe form of encephalitis that was recently identified in the context of acute neuropsychiatric presentation. Here, we describe the case of a 17-year-old girl referred for an acute mania with psychotic features and a clinical picture deteriorated to a catatonic state. Positive diagnosis of anti-NMDA-receptor encephalitis suggested specific treatment. She improved after plasma exchange and immunosuppressive therapy. Post-cognitive sequelae (memory impairment) disappeared within 2-year follow-up and intensive cognitive rehabilitation.     

Occurrence of invasive thymoma after thymectomy for myasthenia gravis: report of a case

We report the occurrence of an invasive thymoma following a median sternotomy with removal of a normal involuted thymus in a patient with myasthenia gravis and stress the prompt reevaluation of post-thymectomy patients who have an initial good response and then deteriorate.     

Recovery from global amnesia during plasma exchange in myasthenia gravis: report of a case

A 47-year old thymectomized woman with myasthenia gravis, receiving prednisone therapy, developed amnesia for recent events during a benign acute febrile illness. Plasma exchange was performed 9 months later, and was followed by a dramatic improvement of the mnemonic dysfunction.