[Angiographic moyamoya in a female with glycogenosis type IA - a case report focusing therapeutic management: bilateral encephalo-duro-arterio-myo-synangiosis (EDAMS)]. / Angiografisches Moyamoya bei Glykogenose Typ IA - Management bei einer erwachsenen Patientin: Fallbericht mit Schwerpunkt auf der Behandlung: beidseitige Encephalo-Duro-Arterio-Myo-Synangiose (EDAMS).

Angiographic Moyamoya is a rare cerebrovascular disease most frequent in asia. Its characateristics are recurrent ischemic attacks due to progressive occlusion of ICA branches. Angiography reveals fine arterial collateralisation reminding of ascending smoke ("moyamoya" in japanese). Neurosurgical treatment strategies include direct and indirect reanastomosation procedures. Randomised trials for comparison of clinical outcome and long term survival remain missing. A 23 years old female with glycogenosis type IA was first diagnosed bilateral angiographic moyamoya with bilateral proximal stenosis of ICA after transient ischemic attack (TIA). Coincidence of both rare diseases moyamoya and glycogenosis has previously been reported in three cases, so that this metabolic dysfunction presumably is a true risk factor for moyamoya. In our case, excellent angiographic and functional results were achieved by bilateral, consecutive Enzephalo-Duro-Arterio-Myo-Synangiosis (EDAMS).

[Clinical and diagnostic characteristics of T1 root syndrome]. / Klinische und diagnostische Charakteristika des Wurzelsyndroms Th1.

BACKGROUND: Among radicular lesions, those affecting the T1 root are rare. Together with the similarity of symptoms to C8 syndrome, which is more common, this makes the diagnosis of T1 radiculopathy complicated. The clinical and diagnostic specifics of T1 syndrome are shown here based on three cases. MATERIALS AND RESULTS: We report on three patients with T1 syndrome. Clinical diagnostics (clinical investigation, electrophysiology, MRI) showed in two cases lateral intraforaminal disc herniae at the T1-2 level, and the third patient had metastasis of a cervix carcinoma being responsible for the radiculopathy. In all cases surgery was performed. The patients with disc herniae were immediately pain-free after surgery; in the third patient the neurological symptoms and pain clearly improved. CONCLUSIONS: These three cases show that by thorough analysis of clinical symptoms and functional (electrophysiology) and morphological (MRI) diagnostics, T1 radiculopathy can be differentiated from C8 lesions. All of the patients benefited from decompressive surgery.

[Myasthenia gravis. Opportunistic cytomegalovirus infection after long-term azathioprine therapy]. / Myasthenia gravis. Opportunistische Zytomegalievirus-Infektion nach langzeitiger Azathioprin-Therapie.

Opportunistic infections after long-term treatment with azathioprine (AZA) have not been noted in patients with myasthenia gravis (MG). We report on a 56-year-old woman with generalized MG who presented with cytomegalovirus infection after being treated with AZA for 17 years. The indication for immunosuppressive treatment in MG should be regularly reconfirmed, particularly since at least 50% of patients can discontinue AZA after two to four years without risk of exacerbation.

[X chromosomal bulbospinal neuropathy (X-BSN, Kennedy syndrome): an illness with repetitive triplet sequences. Case report, differential diagnosis and molecular genetics aspects]. / X-chromosomale bulbospinale Neuronopathie (X-BSN, Kennedy-Syndrom): Eine Erkrankung mit repetitiven Tripletsequenzen. Kasuistik, Differentialdiagnose und molekulargenetische Aspekte.

X-chromosomal recessive bulbospinal neuronopathy (X-BNS, Kennedy's disease) is an important differential diagnosis of amyotrophic lateral sclerosis. We present the data of ten own patients along with a review of the literature on this uncommon disease which is caused by an expanded CAG-repeat in the androgen receptor gene. This mutation probably affects the transcription regulating activity of the androgen receptor in neurons. Signs and symptoms of X-BSN can be derived from partial insensitivity for androgens and a mixed, mainly motor neuronopathy. The clinical diagnosis is based on: 1. lower motor neuron weakness of bulbar and proximal limb muscles with onset in the third to fifth decade, 2. cramps and pronounced fasciculations, particularly of facial muscles, 3. postural tremor, 4. diminished or absent sensory action potentials inspite of only minor sensory impairment, 5. gynecomastia, and 6. infertility, diabetes mellitus and hyperlipoproteinemia in a minority of cases. Unlike amyotrophic lateral sclerosis, disease progression is slow with barely shortened life expectancy, which should be stressed in patient counselling. Causal treatment is as yet unavailable but several aspects of palliative medicine should be considered.

Calf enlargement in neuromuscular diseases: a quantitative ultrasound study in 350 patients and review of the literature.

Calf hypertrophy is a typical clinical feature in neuromuscular diseases such as X-linked muscular dystrophies of Duchenne and Becker type and can be seen as an atypical feature in numerous other diseases. The diagnosis of calf hypertrophy usually is based on subjective visual assessment. The aim of this prospective study was to examine the prevalence of calf hypertrophy in a large number of patients with various neuromuscular diseases based on quantitative ultrasound measurement of calf muscle thickness. Additionally, true and pseudohypertrophy should be distinguished according to the absence or presence of abnormal muscle echointensities caused by infiltration of fat tissue. Fifty adult normal controls and 350 patients with various neuromuscular diseases were investigated. Absolute calf hypertrophy was diagnosed if the combined thickness of the gastrocnemius and soleus muscles exceeded the mean value of the control persons by at least 3.0 standard deviations (SD). Relative calf hypertrophy was diagnosed when the ratio of the combined thicknesses of the gastrocnemius and soleus muscles divided by the combined thicknesses of the rectus femoris and vastus intermedius muscles lay at least 3.0 SD below the mean value of the controls. Pseudohypertrophy was present if the echointensities of the gastrocnemius and soleus muscles reached or exceeded 3.0 SD above the mean value of the controls. An absolute hypertrophy of the calves was detected in 80 patients (= 22,9%; 64 true and 16 pseudohypertrophies), 16 patients exhibited a relative hypertrophy of the calves (= 4.6%; 12 true and 4 pseudohypertrophies). A significantly increased portion of both absolute calf hypertrophies and pseudohypertrophies as compared to the control group were found in juvenile proximal spinal muscular atrophy type 3, central core disease, centronuclear myopathy, benign X-linked muscular dystrophy of Becker type, autosomal recessive limb girdle muscular dystrophy, acid maltase deficiency, polymyositis, and granulomatous myositis. A significantly increased number of relative calf hypertrophies was present in juvenile proximal spinal muscular atrophy type 3, facioscapulohumeral muscular dystrophy, and inclusion body myositis. In the majority of the diseases included in the study, calf hypertrophy occurred in at least some patients. In conclusion, calf hypertrophy is a frequent and unspecific clinical feature in many neuromuscular diseases. Ultrasound is a convenient method for the exact definition of calf hypertrophy.

Muscle edema in MR imaging of neuromuscular diseases.

Muscle edema has been described as a typical finding on MR images in acute neuromuscular disorders, predominantly in acute inflammatory myopathies, but also in neuro- and myopathies. The purpose of this study was to examine the frequency of muscle edema and the diagnostic usefulness of Gd-DTPA in neuromuscular diseases. 144 consecutive patients with various generalized neuromuscular diseases were examined by MR imaging. Areas of high signal intensity, relative to normal muscle, were seen in 36% of T2-weighted images, whereas the corresponding T1-weighted images showed normal or lower signal intensities. These edema-like abnormalities--enlargement of the extracellular fluid space--were found more often in inflammatory and metabolic myopathies, but were also seen in degenerative myopathies. Contrast-enhanced T1-weighted images in 25 patients were not more sensitive than plain T2-weighted images.

[Therapy of cerebral aneurysms and arteriovenous vascular malformations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease)]. / Therapie zerebraler Aneurysmen und arteriovenöser Gefässmalformationen bei der hereditären hämorrhagischen Teleangiektasie (Morbus Rendu-Osler-Weber).

Little is known about the course of cerebral aneurysms in hereditary hemorrhagic teleangiectasia (Rendu-Osler-Weber's disease). Thus, therapeutic decisions are often difficult. For the first time, we report the successful embolization of an arteriovenous fistula and multiple aneurysms of the posterior inferior cerebellar artery (PICA) of a patient with Rendu-Osler-Weber's disease after subarachnoid hemorrhage. Two years later she suffered another severe intracranial hemorrhage. Angiography revealed an aneurysm in the same artery (PICA), which spontaneously disappeared within 2 months. Spontaneous regression of aneurysms in Rendu-Osler-Weber's disease has not been reported before.

Decrease in androgen binding and effect of androgen treatment in a case of X-linked bulbospinal neuronopathy.

X-linked recessive bulbospinal neuronopathy is a motoneuron disorder to be distinguished from amyotrophic lateral sclerosis, Effective treatment is not known. Patients with X-linked recessive bulbospinal neuronopathy may show gynecomastia and testicular atrophy, and a mutation in the androgen receptor gene has been found associated with the disease. Intermediate steps leading from the androgen receptor abnormality to the clinical syndrome have not yet been elucidated. Therefore, binding of androgen ([3H]dihydrotestosterone) to its specific receptor by genital skin fibroblasts cultured from a patient with X-linked recessive bulbospinal neuronopathy and confirmed androgen receptor mutation was studied. Markedly decreased binding capacity was found. We treated the patient for 6 months with nandrolone-decanoate. No effect on his neuromuscular status was observed during 2 years of follow-up.

Repeated single fiber recordings do not affect the jitter and the fiber density.

The temporal variation of at least two muscle fibers of the same motor unit was recorded with the single fiber EMG technique (SFEMG) by means of special needles and filter settings. In the normal musculus extensor digitorum communis (EDC) the mean variation (jitter) is not longer than 37 microseconds, the fiber density not higher than 1.7 fibers in a 10 ms window. To determine whether these parameters are affected by repeated SFEMG recordings, we measured jitter and fiber density in 20 fiber pairs in the left extensor digitorum communis muscle on day 0, 3, 6, 9 and 30 in 5 healthy volunteers. The mean jitter and the fiber density did not change significantly from day 0 (30.1 +/- 3.6 microseconds; 1.4 +/- 0.07) to day 30 (34.5 +/- 2.7 microseconds; 1.6 +/- 0.13). We conclude that repeated SFEMG recordings do not influence jitter and fiber density.

Magnetic resonance imaging of skeletal muscles in idiopathic inflammatory myopathies of adults.

The purpose of the study was to describe typical MRI findings in various types of idiopathic inflammatory myopathies in adulthood and to correlate the MRI with histopathological and electromyographic findings, and the serum creatine kinase (CK) activity. A third goal was to assess the diagnostic value of the use of gadolinium-DTPA (Gd-DTPA). Fifty-eight patients (35 women, 23 men), aged 21-83 years (median age 59 years), suffering from idiopathic myositides (13 with acute and 45 chronic diseases; 25 with polymyositis, 14 with dermatomyositis, 8 with granulomatous and 11 with inclusion body myositides) were examined with MRI. Seventeen of them received an intravenous infusion of Gd-DTPA. Histopathological and MRI findings of 21 muscles of 18 patients were compared. MRI of skeletal muscles showed abnormal signal intensities in 56 (96.6%) of the 58 patients. MRI abnormalities were found more often than elevated CK activity (P < 0.001). The hyperintensity of T2-weighted images was more conspicuous than on T1-weighted images in 26 (44.8%) patients, indicating oedema-like abnormalities. MRI of 50 (86.2%) patients showed fat replacement. In acute myositides, oedema-like abnormalities were more often visible and in muscle lipomatosis less often visible than in chronic diseases (P < 0.05 each). In dermatomyositis oedema-like abnormalities were more and lipomatosis less frequent than in the other types of myositis (P < 0.005) and correlated with the acuteness of the disease.(ABSTRACT TRUNCATED AT 250 WORDS)

Cerebral involvement in McLeod syndrome.

McLeod syndrome is an Xp21-linked Kell blood group variant due to lack of erythrocyte protein Kx with associated RBC membrane dysfunction such as acanthocytosis. A man with this syndrome developed chorea and slight neuropsychological impairment. He had caudate atrophy on cerebral imaging and reduced striatal dopamine D2-receptor binding on single-photon emission computed tomography. Since Xp21 was partly deleted in the patient, the missing gene product (possibly Kx) may be essential for the integrity of the striatum.

Muscular ultrasound in idiopathic inflammatory myopathies of adults.

To evaluate the value of myosonography in inflammatory myopathies ultrasound of skeletal muscles was performed in 70 patients, aged 21-82 years, suffering from histologically proven polymyositis (n = 30), dermatomyositis (n = 18), granulomatous myositis (n = 9), inclusion body myositis (n = 13), and in 102 control persons. The sensitivity of muscle ultrasound in detecting histopathologically proven disease (82.9%) was not significantly different from electromyography (92.4%) or serum creatine kinase activity (68.7%). The positive predictive value of ultrasound was 95.1%, the negative predictive value 89.2%, and the accuracy 91.3%. The different types of inflammatory myopathies presented with typical, but not specific ultrasound features. Polymyositis showed atrophy and increased echointensity predominantly of lower extremity muscles, whereas in dermatomyositis clear muscle atrophy was rare and echointensities were highest in forearm muscles. Echointensities were lower in dermatomyositis compared to poly- and granulomatous myositis. Granulomatous myositis was characterized by the highest echointensities and a tendency towards muscle hypertrophy. Severe muscle atrophy was the most impressive feature in the majority of patients with inclusion body myositis. Comparison of ultrasound and histopathological findings indicates that muscle lipomatosis has a much greater impact on muscular echointensity than does muscle fibrosis. Ultrasound of myositis improved clinical assessment of patients by supplying differential diagnostic clues based on precise muscle size measurements and identification of mesenchymal abnormalities, particularly muscle lipomatosis.

Transcranial cortical stimulation in syringomyelia: correlation with disability?

Central motor conduction times were studied using transcranial magnetic stimulation in 17 patients with syringomyelia. Central motor conduction time (lower-limb pathway) was prolonged or responses were absent in 44% of stimulations. When results were compared with clinical findings and magnetic resonance tomography, only a weak correlation was found. Transcranial magnetic stimulation is thus of limited value for diagnosing and monitoring the course of syringomyelia.

Time course of distant effects of local injections of botulinum toxin.

Botulinum toxin A (btx) is used to treat focal dystonias. From accidental intoxications it is known that btx can cause generalized pathologic single-fiber electromyography (SFEMG) findings. We monitored the onset and course of these disturbances in eight patients who received a small dose of btx (2-22 ng) for therapy of focal dystonias in the head/neck region for the first time via repeated SFEMG investigations at days 0, 3, 6, 9, 12, 28, and 56. Recordings were performed in the extensor digitorum brevis muscle, and in two patients additionally in the tibialis anterior muscle. In six of these patients we found an increase of jitter and blocking. The onset of these changes was in the range of 3-13 days after injection. Fiber density showed a tendency to increase. There was no correlation between SFEMG findings and the dose of injected btx. Possible mechanisms for these observations may be either a very efficient local uptake and retrograde axonal transport via the spinal motor neurons or a systemic distribution via the blood circulation.

Imaging techniques in myotonic dystrophy. A comparative study of ultrasound, computed tomography and magnetic resonance imaging of skeletal muscles.

Limb and trunk muscles of 57 patients with the juvenile or adult form of myotonic dystrophy were studied by imaging techniques (ultrasound, computed tomography, magnetic resonance imaging). Typical findings were atrophy of the tibialis anterior and triceps brachii muscles and fatty degeneration of the vastus intermedius, sartorius, tibialis anterior and soleus muscles as well as of medial head of the gastrocnemius muscle. Magnetic resonance imaging was the most sensitive technique in depicting mesenchymal muscle alterations, followed by computed tomography and ultrasound. The data support that imaging is more sensitive in detecting the myopathy than measurement of the creatine kinase activity.

[Gustatory sweating demonstrated by infrared thermography]. / Gustatorisches Schwitzen. Nachweis mit Infrarot-Thermographie.

A 35-year-old man, previously healthy except for a grade 1 goitre, sustained a spontaneous left pneumothorax treated with a Bülau drain. When the left pneumothorax recurred 2 months later a left thoracotomy was performed. Two bullae at the lung apex were resected and a pleurodesis performed. After the operation the patient noted hypaesthesia of the dorsum of the left upper arm, mild ptosis of the left eyelid as well as reduced sweat secretion over the left half of the face and the left rib cage. The hypaesthesia improved, but the sympathetic nerve deficits remained. There were no other neurological signs. 9 months later, within one minute of eating a sour apple, the patient developed severe sweating over the left half of the face and the left chest. The reaction was confirmed by infra-red thermography which proved that the skin temperature in the sweating region had fallen to 3 degrees C. The likely cause of localized gustatory sweating is intra-operative damage of the stellate ganglion or its preganglionic nerve connections. Treatment is limited to avoidance of the precipitating gustatory stimulus.

McLeod syndrome: a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations.

McLeod syndrome was originally described on the basis of a specific blood group phenotype with weak expression of Kell antigens. This erythrocyte abnormality also causes acanthocytosis. The haematological findings are associated with abnormalities in other organ systems, including neuromuscular manifestations. A 51-year-old patient was followed up for 11 years. He presented with persistent muscle creatine kinase elevation and progressive heart disease and later developed a slowly progressive neuropathy and choreic movements. His younger brother presented with grand mal seizures, involuntary movements and high muscle creatine kinase when aged 43 years. Clinical myopathy was absent in both, yet muscle biopsy showed mild myopathic changes. The presence of a motor axonopathy was supported by electrophysiological findings. One brother also showed sensory axonopathy. The movement disorder suggested accompanying basal ganglia dysfunction. Earlier reports of McLeod syndrome are reviewed with respect to neuromuscular involvement. Absence of the Kx membrane protein seems to be the cause of this multi-system disorder.

Myasthenia gravis: measurement of anti-AChR autoantibodies using cell line TE671.

Anti-acetylcholine receptor (AChR) antibodies in myasthenia gravis (MG) can be quantitated using AChR extracted from the human rhabdomyosarcoma cell line TE671 (AChRTE671) as a practical alternative to AChR from human amputated limbs (AChRAMP). We compared the two antigen preparations using serum samples from different clinical groups of MG patients (n = 112) and various controls (n = 189). With two exceptions, both tests were positive or negative in the same patients. However, in the generalized MG group, the TE671 assay yielded significantly lower titers than the AChRAMP assay.