Desmoplastic small round cell tumor: a rare cause of a progressive brachial plexopathy.

INTRODUCTION: Desmoplastic small round cell tumor (DSRCT) is an uncommon, embryonic-type neoplasm, typically presenting as an abdominal mass in young men. A single case of DSRCT arising in the peripheral nervous system has been reported previously. METHODS: The clinical course, imaging, electrophysiological, intraoperative, histopathological, molecular findings, and postoperative follow-up are reported. RESULTS: A 43-year-old man presented with slowly progressive right brachial plexopathy. Magnetic resonance imaging revealed an enlarged medial cord with heterogeneous contrast enhancement. Histology showed a "small round cell" neoplasm with a polyphenotypic immunoprofile, including epithelial and mesenchymal markers. A pathognomonic fusion of Ewing sarcoma breakpoint region 1 and Wilms tumor 1 genes (EWSR1/WT1) was present. Treatment involved gross total excision and local radiotherapy. CONCLUSIONS: Our findings confirm the occurrence of DSRCT as a primary peripheral nerve tumor. Despite its usually very aggressive clinical course, prolonged recurrence-free survival may be reached. Histomorphology and immunoprofile of DSRCT may lead to misdiagnosis as small cell carcinoma.

Spinal cord diffusion-tensor imaging and motor-evoked potentials in multiple sclerosis patients: microstructural and functional asymmetry.

PURPOSE: To assess possible association between intrinsic structural damage and clinical disability by correlating spinal cord diffusion-tensor (DT) imaging data with electrophysiological parameters in patients with a diagnosis of multiple sclerosis (MS). MATERIALS AND METHODS: This study was approved by the local ethical committee according to the declaration of Helsinki and written informed consent was obtained. DT images and T1- and T2-weighted images of the spinal cord were acquired in 28 healthy volunteers and 41 MS patients. Fractional anisotropy (FA) and apparent diffusion coefficients were evaluated in normal-appearing white matter (NAWM) at the cervical level and were correlated with motor-evoked potentials (n = 34). Asymmetry index was calculated for FA values with corresponding left and right regions of interest as percentage of the absolute difference between these values relative to the sum of the respective FA values. Statistical analysis included Spearman rank correlations, Mann-Whitney test, and reliability analysis. RESULTS: Healthy volunteers had low asymmetry index (1.5%-2.2%). In MS patients, structural abnormalities were reflected by asymmetric decrease of FA (asymmetry index: 3.6%; P = .15). Frequently asymmetrically affected among MS patients was left and right central motor conduction time (CMCT) to abductor digiti minimi muscle (ADMM) (asymmetry index, 15%-16%) and tibialis anterior muscle (TAM) (asymmetry index, 9.5%-14.1%). Statistically significant correlations of functional (ie, electrophysiological) and structural (ie, DT imaging) asymmetries were found (P = .005 for CMCT to ADMM; P = .007 for CMCT to TAM) for the cervical lateral funiculi, which comprise the crossed pyramidal tract. Interobserver reliability for DT imaging measurements was excellent (78%-87%). CONCLUSION: DT imaging revealed asymmetric anatomic changes in spinal cord NAWM, which corresponded to asymmetric electrophysiological deficits for both arms and legs, and reflected a specific structure-function relationship in the human spinal cord.

Confusional migraine is an adult as well as a childhood disease.

BACKGROUND: Acute confusional migraine (ACM) is considered a rare migraine variant primarily seen in children and adolescents. PATIENTS AND METHODS: We present a series of eight adults and two adolescents suffering from migraine attacks associated with transient confusional states. RESULTS: Eight patients reported two or more such attacks. One of them reported mild head trauma in the past. One patient reported mild head trauma as a possible trigger. Further investigations were unremarkable in all patients and did not suggest underlying structural abnormalities, epilepsy or cerebrovascular disease. In none of these patients did we find another cause to explain the observed phenomenon. CONCLUSIONS: Based on this series of patients, we suggest expanding the concept of confusional migraine from the paediatric population to adults. The temporal course of the confusion as well as the association with visual and other aura symptoms suggest cortical spreading depression as the underlying pathophysiology.

Teaching video neuroimages: Beevor sign: when the umbilicus is pointing to neurologic disease.

A 57-year-old man with genetically proven facioscapulohumeral muscular dystrophy (FSHMD 1A) demonstrated Beevor sign (video on the Neurology Web site at www.neurology.org). The upward movement of the umbilicus in a supine patient flexing the neck or sitting up is named after the British neurologist Charles Edward Beevor (1854-1908). He described a "marked elevation of the umbilicus in the act of sitting up" due to a paralyzed infraumbilical part of the rectus abdominis muscle, indicating a lesion of the spinal cord between the segments T10 and T12 or its nerve roots.(1) Beevor sign may also be present, as in our patient, in myopathies affecting the abdominal muscles, particularly in FSHMD, in which predominant involvement of the lower part of the rectus abdominis muscle is typical.(2).

Headache as a manifestation of a life-threatening vascular disorder.

Headache is a common complaint among patients seeking medical assistance. The differentiation between a primary headache disorder versus headache as a symptom of a serious underlying disease is of crucial importance. Dissections of the carotid or vertebral arteries frequently present with headache and can result in ischemic stroke. Rarely, headache or neck pain is a presenting symptom in patients with spontaneous proximal aortic dissection. We report on a 53-year-old man with a history of migraine with aura, who was admitted to the hospital because of severe frontal headache and neck pain. An anterior chest pain lasting for 10 minutes the day before and a diastolic heart murmur suggested a proximal aortic dissection, which was confirmed by transesophageal echocardiography. Patients with proximal aortic dissection rarely have headache or neck pain, reflecting the low incidence of carotid artery involvement in this disease. However, differentiation between an isolated cervical artery dissection and a proximal aortic dissection extending to the carotid arteries is pivotal, since treatment options are vastly different.