Myasthenia gravis patients with anti-MuSK antibodies [Miastenija gravis kod bolesnika s pozitivnim protutijelima na MuSK]

In myasthenia gravis (MG) patients without detectable anti-acetylcholine receptor (anti-AChR) antibody, referred to as seronegative myasthenia gravis patients, there is a variable proportion of patients with antibodies against the muscle specific kinase (MuSK). MuSK antibodies were found in 8 (29.6%) of our 27 patients with generalized MG without anti-AChR antibodies. All these patients were female. The age at the onset ranged from 22 to 38 years. All patients had ocular and bulbar symptoms, and two patients also had generalized limb weakness. Two patients had pure ocular symptoms for 7 or 8 years before the development of bulbar symptoms. All anti-MuSK positive patients were treated with immunosuppressive drugs, three received plasmapheresis and one patient required mechanical ventilation. Our results are consistent with other literature reports

Myasthenia Gravis Patients with Anti-MuSK Antibodies

In myasthenia gravis (MG) patients without detectable anti-acetylcholine receptor (anti-AChR) antibody, referred to as seronegative myasthenia gravis patients, there is a variable proportion of patients with antibodies against the muscle-specific kinase (MuSK). MuSK antibodies were found in 8 (29.6%) of our 27 patients with generalized MG without anti-AChR antibodies. All these patients were female. The age at the onset ranged from 22 to 38 years. All patients had ocular and bulbar symptoms, and two patients also had generalized limb weakness. Two patients had pure ocular symptoms for 7 or 8 years before the development of bulbar symptoms. All anti-MuSK positive patients were treated with immunosuppressive drugs, three received plasmapheresis and one patient required mechanical ventilation. Our results are consistent with other literature reports

Coexistence of Intradural Spinal Arteriovenous Malformation and Associated Developmental Anomalies – Report of Two Cases

Spinal arteriovenous malformations (AVM) have been devided into dural (Type I), intramedullary glomus (Type II), juvenile (Type III), and perimedullary direct arteriovenous fistulae (Type IV). AVMs are usually associated with subacute myelopathy in what has been known as Foix-Alajouanine syndrome.We presented two patients with two intradural spinal arteriovenous malformations associated in what we call Foix-Alajouanine syndrome. The both patient developed acute back pain and paresthesias, followed by paraplegia and incontinence. The clinical status of one patient has been improved after particle embolization for a 17 years when he deteriorated up to paraplegia after spinal angiography for follow up. Clinical status in another patient deteriorated, because particle emoblisation cannot be performed due to very descrete presentation of the feeding artery. Extensive neuroradiological examination in both patients revealed coexistence of numerous associated developmental anomalies in both patients.We conclude that arteriovenous malformations occasionally are associated with other vascular and nonvascular developmental anomalies elsewhere in the body. These findings rise attention about keep in mind the suspicion of mutual etiopathogenesis and congenital origin of these anomalies. Early timing of the diagnostic and therapeutic interventiosn are stressed to prevent or delay irreversible ishaemic myellopathy or haemorrhage. For the definitive diagnosis of spinal arteriovenous malformations and evaluation of its occlusion grade after the therapy spinal angiography is neede

Complex Regional Pain Syndrome Type I after Diphtheria-Tetanus (Di-Te) Vaccination

Complex regional pain syndrome type I (CRPS I) is a disorder of one or more extremities characterized by pain, ab- normal sensitivity (allodynia), swelling, limited range of motion, vasomotor instability, fatigue and emotional distress. The symptoms may be aggravated by even minor activity or weather change. It is usually provoked by injury, surgery or injection but in a small proportion of patients CRPS I develops without a clear causative event. There are several litera- ture reports on CRPS after rubella and hepatitis B vaccination. We present a case of CRPS I affecting the left arm after diphtheria and tetanus (Di-Te) vaccination in the left deltoid muscle in a young girl having experienced profound emo- tional stress before the vaccination procedure. History data on previous minor trauma at the site of vaccination or emo- tional stress may necessitate temporary vaccination delay due to their proneness to impaired local or systemic immune response and CRPS as a complication of vaccination. If a child or an adult has prominent swelling and severe pain after vaccination, the diagnosis of CRPS I should be considered and if confirmed, the multidisciplinary treatment should start as soon as possible

Magnetic resonance imaging and magnetic resonance spectroscopy in a patient with amyotrophic lateral sclerosis and frontotemporal dementia

Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) have been investigated in a single neurodegenerative disease manifesting as either amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD) alone, but have not been examined in combined disorders such as ALS with FTD (ALS-FTD). To our knowledge, this study is the first attempt to demonstrate relationship between MRI abnormalities and MR spectroscopic metabolite changes of the motor cortex, frontal white matter and corticospinal tract in a patient with the diagnosis of ALS with probable upper motor neuron signs (ALS-PUMNS) and FTD. Patient presented underwent MRI of the brain and MRS. The ratio of N-acetylaspartate (NAA) to creatine (Cr), choline to Cr, myo-inositol (ml) to Cr and glutamate-glutamine (Glx) to Cr were derived from peak area measurement. Spectra from the right motor cortex, frontal white matter and corticospinal tract were obtained. MR images were evaluated for sulcus centralis enlargement, corticospinal tract hyperintensity and frontal lobes atrophy. Spectra showed reduced NAA/Cr and Glx/Cr ratio, yet the ratio of Cho/Cr exhibited significant elevation. MR images revealed sulcus centralis enlargement, high signal intensity of corticospinal tract and atrophy of both frontal lobes. Proton spectroscopic metabolic changes in a current patient fully correlate with previously reported MRS metabolic changes in ALS alone. Surprisingly, normal ml (glial marker) values have been found in almost all measured voxels of interest except in the frontal white matter. These findings differ from the previous findings in ALS or FTD alone. In conclusion, these findings support the concept that ALS, FTD and ALS-FTD may represent different manifestations of a single pathological continuum

Coexistence of intradural spinal arteriovenous malformation and associated developmental anomalies – report of two cases [Intraduralna spinalna atriovenska maformacija udružena s razvojnim anomalijama: prikaz dva slučaja]

Spinal arteriovenous malformations (AVM) have been devided into dural (Type I), intramedullary glomus (Type II), juvenile (Type III), and perimedullary direct arteriovenous fistulae (Type IV). AVMs are usually associated with subacute myelopathy in what has been known as Foix-Alajouanine syndrome.We presented two patients with two intradural spinal arteriovenous malformations associated in what we call Foix-Alajouanine syndrome. The both patient developed acute back pain and paresthesias, followed by paraplegia and incontinence. The clinical status of one patient has been improved after particle embolization for a 17 years when he deteriorated up to paraplegia after spinal angiography for follow up. Clinical status in another patient deteriorated, because particle emoblisation cannot be performed due to very descrete presentation of the feeding artery. Extensive neuroradiological examination in both patients revealed coexistence of numerous associated developmental anomalies in both patients.We conclude that arteriovenous malformations occasionally are associated with other vascular and nonvascular developmental anomalies elsewhere in the body. These findings rise attention about keep in mind the suspicion of mutual etiopathogenesis and congenital origin of these anomalies. Early timing of the diagnostic and therapeutic interventiosn are stressed to prevent or delay irreversible ishaemic myellopathy or haemorrhage. For the definitive diagnosis of spinal arteriovenous malformations and evaluation of its occlusion grade after the therapy spinal angiography is needed

Complex regional pain syndrome type I after diphtheria-tetanus (Di-Te) vaccination [Kompleksni regionalni bolni sindrom tip I nakon cijepljenja protiv difterije i tetanusa (DI-TE)]

Complex regional pain syndrome type I (CRPS I) is a disorder of one or more extremities characterized by pain, abnormal sensitivity (allodynia), swelling, limited range of motion, vasomotor instability, fatigue and emotional distress. The symptoms may be aggravated by even minor activity or weather change. It is usually provoked by injury, surgery or injection but in a small proportion of patients CRPS I develops without a clear causative event. There are several literature reports on CRPS after rubella and hepatitis B vaccination. We present a case of CRPS I affecting the left arm after diphtheria and tetanus (Di-Te) vaccination in the left deltoid muscle in a young girl having experienced profound emotional stress before the vaccination procedure. History data on previous minor trauma at the site of vaccination or emotional stress may necessitate temporary vaccination delay due to their proneness to impaired local or systemic immune response and CRPS as a complication of vaccination. If a child or an adult has prominent swelling and severe pain after vaccination, the diagnosis of CRPS I should be considered and if confirmed, the multidisciplinary treatment should start as soon as possible

Miastenija gravis kod bolesnika s pozitivnim protutijelima na MuSK

In myasthenia gravis (MG) patients without detectable anti-acetylcholine receptor (anti-AChR) antibody, referred to as seronegative myasthenia gravis patients, there is a variable proportion of patients with antibodies against the muscle specific kinase (MuSK). MuSK antibodies were found in 8 (29.6%) of our 27 patients with generalized MG without anti-AChR antibodies. All these patients were female. The age at the onset ranged from 22 to 38 years. All patients had ocular and bulbar symptoms, and two patients also had generalized limb weakness. Two patients had pure ocular symptoms for 7 or 8 years before the development of bulbar symptoms. All anti-MuSK positive patients were treated with immunosuppressive drugs, three received plasmapheresis and one patient required mechanical ventilation. Our results are consistent with other literature reports.Bolesnici s miastenijom gravis (MG) kod kojih se ne na|u protutijela na acetilkolinske receptore (AChR) referiraju se kao bolesnici sa seronegativnom miastenijom gravis. Ti bolesnici u različitom postotku imaju pozitivna protutijela na specifičnu mišićnu kinazu (MuSK). Protutijela na MuSK bila su pozitivna kod 8 od 27 naših bolesnika s MG (29,6%) kod kojih nisu na|ena protutijela na AChR. Svi naši bolesnici su bile žene. Simptomi MG su se javili u dobi od 22–38 godina. Sve bolesnice su imale očne i bulbarne simptome, a dvije su imale i generaliziranu slabost u rukama i nogama. Dvije su bolesnice imale samo okularne simptome 7 odnosno 8 godina prije pojave bulbarnih simptoma. Sve su liječene imunosupresivnom terapijom, tri su bolesnice liječene plazmaferezom, a jedna je u jednom razdoblju trebala i mehaničku ventilaciju. Naši rezultati su slični rezultatima ostalih autora

Current concepts in the diagnosis of transverse myelopathies

The clinical symptoms and MRI characteristics of transverse myelopathy (TM) due to non-compressive causes are reviewed, with special emphasis on the differential diagnosis between inflammatory demyelinating lesions, and metabolic and vascular myelopathies. Inflammatory transverse myelopathies are the commonest and most difficult ones to identify. The differentiation between clinically isolated syndromes, multiple sclerosis, neuromyelitis optica, acute disseminated encephalomyelitis and metabolic causes is based on both clinical symptoms and paraclinical signs including magnetic resonance imaging, cerebrospinal fluid analysis, and immunological and biochemical parameters. The most intriguing form of TM is that where there is clinical evidence of complete spinal cord transection, with normal findings in magnetic resonance imaging in the acute phase, but subsequent cord atrophy