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Myasthenia gravis and facioscapulohumeral muscular dystrophy (FSHD) co-existing in one patient — A case report
Abstracts / Journal of the Neurological Sciences 333 (2013) e422–e480
A 70 year old male was presented with history of symmetrical, proximal muscle weakness, muscle pain, cough, reduced appetite, remarkable weight loss, constipation, and erythematous forehead lesion. Clinical symptoms had subacute course three months prior to hospitalization, initially with erythematous forehead lesion, cough and constipation. The patient had noticed difficulty in climbing the stairs and a month later proximal upper limb weakness in difficulty overhead activities. The muscular weakness was gradually progressive. The patient has uncontrolled diabetes mellitus and he was complaining about hypesthesia in distal parts of lower limbs. Series of tests were carried out prior to hospitalization: complete blood count; EMG; LP; prostigmin test; cervical MRI; SEP; thyroid profile; and PSA. Bedside examination revealed erythematous forehead lesion, inspiratory crackles in the lung bases; proximal, symmetrical muscle weakness, muscle pain on grasping, generalized hypotony, proximal hypotrophy of upper limbs, and generalized areflexia. No fasciculations were seen in any of the muscle. We have made complete blood count; EMG; SEP; ocular fundus exam; chest radiography; and ECG. With the results our case satisfied all the criteria for the definite diagnosis. Improvement was seen after we began the treatment with high-dose corticosteroids, supportive and symptomatic therapy. It is essential to recognize early manifestations, investigate and differentiate dermatomyositis, initiate the therapy early, and search for malignancy. Further investigation is necessary. doi:10.1016/j.jns.2013.07.1669
Abstract - WCN 2013 No: 2573 Topic: 7 - Neuromuscular disorders Cryoglobulinaemia and peripheral neuropathy R. Beyrouti, F. Nabli, S. Ben Sassi, M. Zouari, F. Hentati. Department of Neurology, National Institute Mongi Ben Hamida of Neurology of Tunis, Tunis, Tunisia Background: Cryoglobulinaemia is a systemic inflammatory condition characterised by immune complex-mediated small-to-medium-sized vasculitis. The most common type described in the literature is secondary to hepatitis C. It has a wide variety of presentations ranging from bruising, neuropathy, and hepatosplenomegaly to acute renal failure. Objective: Here we described two cases of cryoglobulinaemia and peripheral neuropathy without HCV. Patients: A 46 year old female and a 29 year old male without pathological history developed paresthesias, painful sensations and progressive distal motor weakness in the lower limbs. Neurological examination of the patients tow showed distal weakness and areflexia in lower limbs associated with superficial and proprioceptive sensory disturbance. Nerve conduction studies were suggestive of axonal sensorimotor neuropathy. Cutaneous muscular nerve biopsy showed a mild axonal neuropathy. Laboratory studies showed a detection of serum mixed (IgG–IgM) cryoglobulins in the first case and the presence of monoclonal cryoglobulins type IgG in the second, and excluded others' autoimmune and hepatitis markers. Our patients were treated and subsequently improved with only oral steroids in the first case, and with both oral steroids and immunosuppressive treatment in the second. Conclusion: Neuropathy in our cases was the initial manifestation of mixed cryoglobulinaemia which was seen in half of the patients in the literature. Previous works reported that the peripheral neuropathy was more common with essential mixed cryoglobulinaemia and was generally of sensory type. Cryglobulinaemia must be looked for in case of neuropathy. doi:10.1016/j.jns.2013.07.1670
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Abstract - WCN 2013 No: 1592 Topic: 7 - Neuromuscular disorders Agrin–Lrp4–MuSK signaling in passively transferred experimental myasthenia gravis rat M. Motomuraa, S. Yoshimurab, T. Yoshimurab, T. Naritab, R. Nakatab, A. Mukainob, T. Miyazakib, H. Nakajimab, A. Kawakamib, M. Tsujihatac, M. Eguchid, O. Higuchie. aNagasaki University Hospital, Nagasaki, Japan; bNagasaki University, Nagasaki, Japan; cNagasaki Kita Hospital, Nagasaki, Japan; dTherapeutic Protein Products Research Department, The Chemo-Sero-Therapeutic Research Institute, Kumamoto, Japan; e Nagasaki Kawatana Medical Center, Higashisonogi, Japan Objective: Passively transferred experimental autoimmune myasthenia gravis (p-EAMG) rats can be induced by injecting serum from an AChR-immunized chronic EAMG rat. The present study aimed to clarify Agrin–Lrp4–MuSK signaling in the neuromuscular junction (NMJ) in vivo using immunohistochemical methods. Methods: Injection of 250 μL of anti-AChR antibody-positive rat sera into normal female Lewis rats (n = 6) induced severe signs of pEAMG including weight loss and AChR deficiency in the NMJs. By contrast, injection of 50 μL of the sera into normal rats (n = 6) induced mild signs of p-EAMG with no significant weight loss and AChR deficiency in the NMJs. Using the p-EAMG rats, expression levels of MuSK and Lrp4 proteins at the NMJ were analyzed by an immunohistochemical method. Results: In the NMJs of p-EAMG rats with mild signs, high signal intensity of MuSK and Lrp4 was detected, but not in p-EAMG rats with severe signs and wild-type of rats. Conclusions: Our data suggest that expression of Lrp4 and MuSK is up-regulated to oppose a disorder of neuromuscular function caused in rats with mild signs of p-EAMG. doi:10.1016/j.jns.2013.07.1671
Abstract - WCN 2013 No: 2726 Topic: 7 - Neuromuscular disorders Myasthenia gravis and facioscapulohumeral muscular dystrophy (FSHD) co-existing in one patient — A case report M. Guger, G. Caravias, W. Struhal, G. Ransmayr. General Hospital Linz, Linz, Austria Introduction: Some case reports describe co-existence of myasthenia gravis and facioscapulohumeral muscular dystrophy (FSHD) in one patient. It is unclear, if the association is coincidental or not. There is evidence that muscle fibre degeneration can cause innate immune responses and leads to the generation of autoantibodies against muscle proteins. Case report: We describe a 66-year old male with onset of weakness of the proximal upper limb muscles at age 40. Family history was not available. At this time electrophysiological workup revealed myopathic changes in the upper extremities and muscular biopsy of the left deltoid muscle showed a neurogenic atrophy. At the age of 45 the patient complained about a ptosis of the right eye and diplopia. A seropositive generalized myasthenia gravis was diagnosed and the patient underwent thymectomy. On cyclosporine treatment the patient remained symptom free until the age of 61. At this time neurological examination revealed moderate muscle weakness and atrophy of the scapulohumeral region. Creatine kinase was elevated between 200 and 300 U/l. A myopathic pattern of the muscles of the upper limb was found in electromyography.
e470
Abstracts / Journal of the Neurological Sciences 333 (2013) e422–e480
Re-biopsy of the right deltoid muscle showed again a neurogenic atrophy. Genetic testing on FSHD confirmed the diagnosis (10 copies of D4Z4repeats). Conclusion: In our case we found a coincidence of two diseases because ptosis and diplopia are not typical for FSHD and we observed an excellent response to immunosuppressive agents for the myasthenia related symptoms. doi:10.1016/j.jns.2013.07.1672
Abstract - WCN 2013 No: 2782 Topic: 7 - Neuromuscular disorders Mycosis fungoides and CIDP: A case report M. Moghaddasia, N. Mohebib. aNeurology, Rasool Akram Hospital, Iran University of Medical Sciences, Tehran, Iran; bNeurology, Iran University of Medical Sciences, Tehran, Iran Background: Mycosis fungoides or granuloma fungoides, is the most common form of cutaneous T-cell lymphoma. It generally affects the skin, but may progress internally over time. Symptoms include rash, tumors, skin lesions, and itchy skin. Most cases are sporadic and occur in people over 20 years of age, and it is more common in men than women. Treatment options include sunlight exposure, ultraviolet light, topical steroids, chemotherapy, and radiation. Case report: A 53 year old male with history of Mycosis fungoides since 10 years PTA, came for his subacute progression of proximal muscle weakness that occurred 2 months before admission. Neurological examination revealed areflexia, proximal and distal muscle weakness, stokes and glove sensory disturbance, and loss of position sense. Electrophysiology study showed sensory motor polyneuropathy with conduction block without spontaneous activity. All lab tests for vasculitis and gammopathies were normal. Lp was done that showed elevated protein (90 mg/cc). The patient was diagnosed as CIDP and IVIG therapy was started. Conclusion: Some complications like skin cancer, melanoma, colon cancer, Hodgkin lymphoma, and non-Hodgkin lymphomas have been reported but if polyneuropathy is a rare complication of disease or it is a concomitant state is still unclear. doi:10.1016/j.jns.2013.07.1673
Abstract - WCN 2013 No: 2866 Topic: 7 - Neuromuscular disorders Surface electromyography study of complete spinal cord injury patients. Preliminary results G. Albanese, M.T. Moviglia Brandolino, S. Piccone, G. Moviglia. CIITT, Maimonides University, Buenos Aires, Argentina Introduction: Frankel A spinal cord injury patients have three different spinal cord functional segments detected by clinical examination: 1. — Proximal segment with motor and sensitive complete functional preservation until the first damaged metamer. 2. — Medial segment with motor and sensitive incomplete functional preservation. This segment should be not longer than three metamers, and 3. — Distal segment, with motor and sensitive null functionality. Muscular electric activity of these three segments is reported.
Methods: 9 patients with complete spinal cord injury assessed by two independent professionals underwent to a surface electromyogram of muscles innervated by last three metamers of the proximal segment, three metamers of the incomplete segment and three first metamers of distal segment. Registers of voluntary activity were taken with surface electrodes; and patients were awake but resting. Wave amplitudes were studied. Results: The patients had normal electromyography registers in the proximal segment. Conforming the registers were obtained from muscles innervated for more distant metamers except the last preserved one, they showed progressive number lost of high activity waves, replaced by clusters of low activity waves. This tendency progressed on muscles innervated for the two metamers of distal segment, disappearing any electric activity at muscles innervated by the third metamer. Discussion: Electrical activity in the two first metamers of the distal segment reveals that there is a subclinical connection between cortex and corresponding second motoneurons. Progressive increasing number of low activity waves supports that there is a diminishing number of motoneurons taken compensatory innervation of dennervated miofibrillas. doi:10.1016/j.jns.2013.07.1674
Abstract - WCN 2013 No: 2331 Topic: 7 - Neuromuscular disorders Dermatomyositis in a patient with facioscapulohumeral dystrophy H. Delgado, L. Santos. Neurology Service, Centro Hospitalar Lisboa Ocidental, Hospital de Egas Moniz, Lisbon, Portugal Background: The association of Facioscapulohumeral Dystrophy (FSHD) and Dermatomyositis is not described in the literature. Objective: Case-report of patient with FSHD and Dermatomyositis. Material and methods: Review of the clinical record. Results: Female, 23 year-old, with family history of FSHD (mother, aunt and 2 cousins), apparently healthy until September 2011, when she started to develop a progressive tetraparesia, initially with asymmetry. The genetic testing for FSHD was positive. Five months after the initiation of the muscular weakness she presented a grade 2–3/5MRC tetraparesis, including cervical involvement and facial biparesia, and 2 months later she started with dysphagia for liquids. In May 2012 she was admitted to the Neurology Service because of clinical deterioration with dysphagia and loss of gait. The analytical review performed during this hospital admission showed: CK N 3000 IU, ANA1/1280 mottled pattern, Ac antiMi2+, EMG: findings compatible with necrotizing myopathy. A muscle biopsy showed changes compatible with an inflammatory myopathy. The patient suffered aspiration pneumonia leading to invasive ventilation. Concomitantly heliotropic rash and erythroderma developed at the knees and face with malar rash. Given the clinical picture and the results of diagnostic exams, the diagnosis of Dermatomyositis was proposed. She was treated with methylprednisolone, followed by prednisolone and parallel immune globulin with discreet improvement of motor function. Later, methotrexate was added as well as rescue therapy with 5 plasmapheresis sessions, because of the poor clinical evolution. Currently, she is on spontaneous ventilation, with improved distal muscle strength. Conclusion: The presence of 2 rare diseases in the same individual hindered the diagnosis and delayed the start of immunosuppressive therapy. doi:10.1016/j.jns.2013.07.1675
A 70 year old male was presented with history of symmetrical, proximal muscle weakness, muscle pain, cough, reduced appetite, remarkable weight loss, constipation, and erythematous forehead lesion. Clinical symptoms had subacute course three months prior to hospitalization, initially with erythematous forehead lesion, cough and constipation. The patient had noticed difficulty in climbing the stairs and a month later proximal upper limb weakness in difficulty overhead activities. The muscular weakness was gradually progressive. The patient has uncontrolled diabetes mellitus and he was complaining about hypesthesia in distal parts of lower limbs. Series of tests were carried out prior to hospitalization: complete blood count; EMG; LP; prostigmin test; cervical MRI; SEP; thyroid profile; and PSA. Bedside examination revealed erythematous forehead lesion, inspiratory crackles in the lung bases; proximal, symmetrical muscle weakness, muscle pain on grasping, generalized hypotony, proximal hypotrophy of upper limbs, and generalized areflexia. No fasciculations were seen in any of the muscle. We have made complete blood count; EMG; SEP; ocular fundus exam; chest radiography; and ECG. With the results our case satisfied all the criteria for the definite diagnosis. Improvement was seen after we began the treatment with high-dose corticosteroids, supportive and symptomatic therapy. It is essential to recognize early manifestations, investigate and differentiate dermatomyositis, initiate the therapy early, and search for malignancy. Further investigation is necessary. doi:10.1016/j.jns.2013.07.1669
Abstract - WCN 2013 No: 2573 Topic: 7 - Neuromuscular disorders Cryoglobulinaemia and peripheral neuropathy R. Beyrouti, F. Nabli, S. Ben Sassi, M. Zouari, F. Hentati. Department of Neurology, National Institute Mongi Ben Hamida of Neurology of Tunis, Tunis, Tunisia Background: Cryoglobulinaemia is a systemic inflammatory condition characterised by immune complex-mediated small-to-medium-sized vasculitis. The most common type described in the literature is secondary to hepatitis C. It has a wide variety of presentations ranging from bruising, neuropathy, and hepatosplenomegaly to acute renal failure. Objective: Here we described two cases of cryoglobulinaemia and peripheral neuropathy without HCV. Patients: A 46 year old female and a 29 year old male without pathological history developed paresthesias, painful sensations and progressive distal motor weakness in the lower limbs. Neurological examination of the patients tow showed distal weakness and areflexia in lower limbs associated with superficial and proprioceptive sensory disturbance. Nerve conduction studies were suggestive of axonal sensorimotor neuropathy. Cutaneous muscular nerve biopsy showed a mild axonal neuropathy. Laboratory studies showed a detection of serum mixed (IgG–IgM) cryoglobulins in the first case and the presence of monoclonal cryoglobulins type IgG in the second, and excluded others' autoimmune and hepatitis markers. Our patients were treated and subsequently improved with only oral steroids in the first case, and with both oral steroids and immunosuppressive treatment in the second. Conclusion: Neuropathy in our cases was the initial manifestation of mixed cryoglobulinaemia which was seen in half of the patients in the literature. Previous works reported that the peripheral neuropathy was more common with essential mixed cryoglobulinaemia and was generally of sensory type. Cryglobulinaemia must be looked for in case of neuropathy. doi:10.1016/j.jns.2013.07.1670
e469
Abstract - WCN 2013 No: 1592 Topic: 7 - Neuromuscular disorders Agrin–Lrp4–MuSK signaling in passively transferred experimental myasthenia gravis rat M. Motomuraa, S. Yoshimurab, T. Yoshimurab, T. Naritab, R. Nakatab, A. Mukainob, T. Miyazakib, H. Nakajimab, A. Kawakamib, M. Tsujihatac, M. Eguchid, O. Higuchie. aNagasaki University Hospital, Nagasaki, Japan; bNagasaki University, Nagasaki, Japan; cNagasaki Kita Hospital, Nagasaki, Japan; dTherapeutic Protein Products Research Department, The Chemo-Sero-Therapeutic Research Institute, Kumamoto, Japan; e Nagasaki Kawatana Medical Center, Higashisonogi, Japan Objective: Passively transferred experimental autoimmune myasthenia gravis (p-EAMG) rats can be induced by injecting serum from an AChR-immunized chronic EAMG rat. The present study aimed to clarify Agrin–Lrp4–MuSK signaling in the neuromuscular junction (NMJ) in vivo using immunohistochemical methods. Methods: Injection of 250 μL of anti-AChR antibody-positive rat sera into normal female Lewis rats (n = 6) induced severe signs of pEAMG including weight loss and AChR deficiency in the NMJs. By contrast, injection of 50 μL of the sera into normal rats (n = 6) induced mild signs of p-EAMG with no significant weight loss and AChR deficiency in the NMJs. Using the p-EAMG rats, expression levels of MuSK and Lrp4 proteins at the NMJ were analyzed by an immunohistochemical method. Results: In the NMJs of p-EAMG rats with mild signs, high signal intensity of MuSK and Lrp4 was detected, but not in p-EAMG rats with severe signs and wild-type of rats. Conclusions: Our data suggest that expression of Lrp4 and MuSK is up-regulated to oppose a disorder of neuromuscular function caused in rats with mild signs of p-EAMG. doi:10.1016/j.jns.2013.07.1671
Abstract - WCN 2013 No: 2726 Topic: 7 - Neuromuscular disorders Myasthenia gravis and facioscapulohumeral muscular dystrophy (FSHD) co-existing in one patient — A case report M. Guger, G. Caravias, W. Struhal, G. Ransmayr. General Hospital Linz, Linz, Austria Introduction: Some case reports describe co-existence of myasthenia gravis and facioscapulohumeral muscular dystrophy (FSHD) in one patient. It is unclear, if the association is coincidental or not. There is evidence that muscle fibre degeneration can cause innate immune responses and leads to the generation of autoantibodies against muscle proteins. Case report: We describe a 66-year old male with onset of weakness of the proximal upper limb muscles at age 40. Family history was not available. At this time electrophysiological workup revealed myopathic changes in the upper extremities and muscular biopsy of the left deltoid muscle showed a neurogenic atrophy. At the age of 45 the patient complained about a ptosis of the right eye and diplopia. A seropositive generalized myasthenia gravis was diagnosed and the patient underwent thymectomy. On cyclosporine treatment the patient remained symptom free until the age of 61. At this time neurological examination revealed moderate muscle weakness and atrophy of the scapulohumeral region. Creatine kinase was elevated between 200 and 300 U/l. A myopathic pattern of the muscles of the upper limb was found in electromyography.
e470
Abstracts / Journal of the Neurological Sciences 333 (2013) e422–e480
Re-biopsy of the right deltoid muscle showed again a neurogenic atrophy. Genetic testing on FSHD confirmed the diagnosis (10 copies of D4Z4repeats). Conclusion: In our case we found a coincidence of two diseases because ptosis and diplopia are not typical for FSHD and we observed an excellent response to immunosuppressive agents for the myasthenia related symptoms. doi:10.1016/j.jns.2013.07.1672
Abstract - WCN 2013 No: 2782 Topic: 7 - Neuromuscular disorders Mycosis fungoides and CIDP: A case report M. Moghaddasia, N. Mohebib. aNeurology, Rasool Akram Hospital, Iran University of Medical Sciences, Tehran, Iran; bNeurology, Iran University of Medical Sciences, Tehran, Iran Background: Mycosis fungoides or granuloma fungoides, is the most common form of cutaneous T-cell lymphoma. It generally affects the skin, but may progress internally over time. Symptoms include rash, tumors, skin lesions, and itchy skin. Most cases are sporadic and occur in people over 20 years of age, and it is more common in men than women. Treatment options include sunlight exposure, ultraviolet light, topical steroids, chemotherapy, and radiation. Case report: A 53 year old male with history of Mycosis fungoides since 10 years PTA, came for his subacute progression of proximal muscle weakness that occurred 2 months before admission. Neurological examination revealed areflexia, proximal and distal muscle weakness, stokes and glove sensory disturbance, and loss of position sense. Electrophysiology study showed sensory motor polyneuropathy with conduction block without spontaneous activity. All lab tests for vasculitis and gammopathies were normal. Lp was done that showed elevated protein (90 mg/cc). The patient was diagnosed as CIDP and IVIG therapy was started. Conclusion: Some complications like skin cancer, melanoma, colon cancer, Hodgkin lymphoma, and non-Hodgkin lymphomas have been reported but if polyneuropathy is a rare complication of disease or it is a concomitant state is still unclear. doi:10.1016/j.jns.2013.07.1673
Abstract - WCN 2013 No: 2866 Topic: 7 - Neuromuscular disorders Surface electromyography study of complete spinal cord injury patients. Preliminary results G. Albanese, M.T. Moviglia Brandolino, S. Piccone, G. Moviglia. CIITT, Maimonides University, Buenos Aires, Argentina Introduction: Frankel A spinal cord injury patients have three different spinal cord functional segments detected by clinical examination: 1. — Proximal segment with motor and sensitive complete functional preservation until the first damaged metamer. 2. — Medial segment with motor and sensitive incomplete functional preservation. This segment should be not longer than three metamers, and 3. — Distal segment, with motor and sensitive null functionality. Muscular electric activity of these three segments is reported.
Methods: 9 patients with complete spinal cord injury assessed by two independent professionals underwent to a surface electromyogram of muscles innervated by last three metamers of the proximal segment, three metamers of the incomplete segment and three first metamers of distal segment. Registers of voluntary activity were taken with surface electrodes; and patients were awake but resting. Wave amplitudes were studied. Results: The patients had normal electromyography registers in the proximal segment. Conforming the registers were obtained from muscles innervated for more distant metamers except the last preserved one, they showed progressive number lost of high activity waves, replaced by clusters of low activity waves. This tendency progressed on muscles innervated for the two metamers of distal segment, disappearing any electric activity at muscles innervated by the third metamer. Discussion: Electrical activity in the two first metamers of the distal segment reveals that there is a subclinical connection between cortex and corresponding second motoneurons. Progressive increasing number of low activity waves supports that there is a diminishing number of motoneurons taken compensatory innervation of dennervated miofibrillas. doi:10.1016/j.jns.2013.07.1674
Abstract - WCN 2013 No: 2331 Topic: 7 - Neuromuscular disorders Dermatomyositis in a patient with facioscapulohumeral dystrophy H. Delgado, L. Santos. Neurology Service, Centro Hospitalar Lisboa Ocidental, Hospital de Egas Moniz, Lisbon, Portugal Background: The association of Facioscapulohumeral Dystrophy (FSHD) and Dermatomyositis is not described in the literature. Objective: Case-report of patient with FSHD and Dermatomyositis. Material and methods: Review of the clinical record. Results: Female, 23 year-old, with family history of FSHD (mother, aunt and 2 cousins), apparently healthy until September 2011, when she started to develop a progressive tetraparesia, initially with asymmetry. The genetic testing for FSHD was positive. Five months after the initiation of the muscular weakness she presented a grade 2–3/5MRC tetraparesis, including cervical involvement and facial biparesia, and 2 months later she started with dysphagia for liquids. In May 2012 she was admitted to the Neurology Service because of clinical deterioration with dysphagia and loss of gait. The analytical review performed during this hospital admission showed: CK N 3000 IU, ANA1/1280 mottled pattern, Ac antiMi2+, EMG: findings compatible with necrotizing myopathy. A muscle biopsy showed changes compatible with an inflammatory myopathy. The patient suffered aspiration pneumonia leading to invasive ventilation. Concomitantly heliotropic rash and erythroderma developed at the knees and face with malar rash. Given the clinical picture and the results of diagnostic exams, the diagnosis of Dermatomyositis was proposed. She was treated with methylprednisolone, followed by prednisolone and parallel immune globulin with discreet improvement of motor function. Later, methotrexate was added as well as rescue therapy with 5 plasmapheresis sessions, because of the poor clinical evolution. Currently, she is on spontaneous ventilation, with improved distal muscle strength. Conclusion: The presence of 2 rare diseases in the same individual hindered the diagnosis and delayed the start of immunosuppressive therapy. doi:10.1016/j.jns.2013.07.1675