Obturator mononeuropathy caused by lipomatosis of the nerve: a case report

We report a patient who presented with the clinical features of obturator mononeuropathy. Abdomino-pelvic computed tomography revealed a fusiform mass in the right perivesical space; magnetic resonance imaging (MRI) showed characteristic "coaxial-cable-like" appearance in cross-section and "spaghetti-like" appearance in longitudinal section, pathognomonic of lipomatosis of the nerve. Nerve lipomatosis as the cause of obturator neuropathy has not been previously reported. MRI provides definite and graphic proof of the diagnosis.     

Transcranial magnetic stimulation and sleep disorders: pathophysiologic insights

The neural mechanisms underlying the development of the most common intrinsic sleep disorders are not completely known. Therefore, there is a great need for noninvasive tools which can be used to better understand the pathophysiology of these diseases. Transcranial magnetic stimulation (TMS) offers a method to noninvasively investigate the functional integrity of the motor cortex and its corticospinal projections in neurologic and psychiatric diseases.     

Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families

Spinal and bulbar muscular atrophy (Kennedy disease) is an adult form of X-linked motor neuron disease caused by the expansion of a polymorphic CAG-repeat sequence in the first exon of the androgen receptor gene. We studied clinical and molecular features of 36 patients and 19 heterozygous females. Phenotypic manifestations and disease severity broadly varied among our spinal and bulbar muscular atrophy patients. The size of CAG expansion significantly influences the age of disease onset, but neither clinical features nor disease severity. The majority of carrier women presented signs of chronic denervation at neurophysiological examination and, in three cases, low-amplitude sensory action potentials were recorded. Notably, a few women developed mild signs of bulbar motor neuron impairment later in life. The identification of a large number of patients by the use of the molecular test further supports the hypothesis that Kennedy disease had been previously underdiagnosed, probably because of the great variability of clinical presentation. Although an early diagnosis may not be crucial for treatment, given the lack of effective therapy, the molecular testing can be of great relevance for disease prognosis and genetic counseling.     

Inhibitory and excitatory circuits of cerebral cortex after ischaemic stroke: prognostic value of the transcranial magnetic stimulation

The motor cortex excitatory responses and inhibitory effects after transcranial magnetic stimulation were studied in 20 patients with hemiparesis after ischaemic stroke in the MCA territory within 24 hours from the beginning of the symptomatology, in order to evaluate prognostic utility of these techniques and to compare they with the conventional MEP examination. Central motor conduction time was abnormal in two patient. Ipsilateral cortico-cortical inhibition was decreased after stimulation of the ischaemic motor cortex in all patients; the duration of the silent period was prolonged in 15 patients, whereas the resting threshold for responses to magnetic stimulation was abnormal in 8 patients. Only this last finding was constantly associated with a poor motor recovery; therefore the patients with preserved motor threshold reached a good motor function in the following months. The motor cortex threshold measurement is easily performed and the most sensitive parameter in our group of patients with hemispheric infarct. Our study suggested that the evaluation of the modifications in the intrinsic excitatory properties rather than in the inhibitory cortical circuits may offer a prognostic tool for predicting functional outcome following ischaemic stroke.     

Respiratory weakness in neuralgic amyotrophy: report of two cases with phrenic nerve involvement

An isolated affection of the phrenic nerve is a rare feature in patients with neuralgic amyotrophy. We report 1 case each of bilateral and unilateral phrenic neuropathy. The first patient presented a sudden onset of severe respiratory failure without pain. The second patient developed intense pain in the neck and in the right shoulder followed by dyspnea on mild effort and orthopnea. Chest X-rays showed elevation of the diaphragm. Needle electromyography revealed denervation restricted to the diaphragm. The phrenic nerve conduction was within the normal range. The diagnosis of neuralgic amyotrophy may be particularly difficult when the palsy of the phrenic nerve appears without brachial plexus involvement or the typical shoulder pain of acute onset. In our patients, electrophysiological evaluation combined with radiographic studies, ventilatory parameters and biochemical analyses were helpful in establishing the diagnosis. Received: 18 March 2000 / Accepted in revised form: 26 May 2000     

Magnetic resonance imaging and motor-evoked potentials in spinal cord infarction: report of two cases

Because in the early phases of spinal cord ischemia magnetic resonance imaging (MRI) can be normal, its clinical diagnosis is often difficult. We aimed to explore if motor-evoked potentials (MEPs) recordings may contribute to earlier diagnosis of spinal cord stroke. The clinical, MRI, and MEP findings in one case each of cervical and lumbar spinal cord infarction were reported. Spinal MRI at admission was unremarkable in both patients. At this time, MEPs were abnormal in both patients, to the upper and lower limbs in the first patient, exclusively to the lower limbs in the second. Follow-up MRI examinations documented an infarction in the territory of the anterior spinal artery and of the Adamkiewicz artery, respectively. MEP study can be useful in demonstrating spinal cord involvement also when radiological evidence for spinal cord damage is absent or equivocal. Early diagnosis may allow earlier intervention and contribute to improved patient management.     

Terminology of psychogenic nonepileptic seizures

Several different terms have been used to describe “psychogenic nonepileptic seizures” (PNES) in the literature. In this study, we evaluated the most common English terms used to describe PNES on Google and in PubMed using multiple search terms ( https://www.google.com and http://www.ncbi.nlm.nih.gov/pubmed ). The information prevalence of the five terms most frequently used to refer to PNES in PubMed were: psychogenic non(‐)epileptic seizure(s), followed by pseudo(‐)seizure(s), non(‐)epileptic seizure(s), psychogenic seizure(s), and non(‐)epileptic event(s). The five most frequently adopted terms to describe PNES in Google were: psychogenic non(‐)epileptic seizure(s), followed by non(‐)epileptic event(s), psychogenic attack(s), non(‐)epileptic attack(s), and psychogenic non(‐)epileptic attack(s). The broad spectrum of synonyms used to refer to PNES in the medical literature reflects a lack of internationally accepted, uniform terminology for PNES. In addition to “seizure(s),” lay people use the word “attack(s)” to describe PNES. Although considered obsolete, some terms, e.g., pseudoseizure(s), are still used in the recent medical literature. Adopting a uniform terminology to describe PNES could facilitate communication between epileptologists, physicians without specific expertise in epilepsy, and patients.