Facial onset sensory and motor neuronopathy (FOSMN syndrome): a novel syndrome in neurology.

A 'syringomyelia-like' syndrome has been infrequently reported in neurological disorders such as Tangiers disease and lepromatous leprosy. This study reports a novel 'syringomyelia-like' syndrome in four adult male patients, which we have termed facial onset sensory and motor neuronopathy, or FOSMN syndrome, that appears to have a neurodegenerative aetiology. Clinical, neurophysiological and pathological data of four patients were reviewed, including the autopsy in one patient. Four male patients (mean age at onset 43), initially developed paraesthesiae and numbness in a trigeminal nerve distribution, which slowly progressed to involve the scalp, neck, upper trunk and upper limbs in sequential order. Motor manifestations, including cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy developed later in the course of the illness. Neurophysiological findings revealed a generalized sensory motor neuronopathy of caudally decreasing severity in all four patients. Autopsy in one patient disclosed loss of motoneurons in the hypoglossal nucleus and cervical anterior horns, along with loss of sensory neurons in the main trigeminal sensory nucleus and dorsal root ganglia. FOSMN syndrome appears to be a slowly progressive neurodegenerative disorder, whose pathogenesis remains to be determined.

Thromboembolic complications of intravenous immunoglobulin treatment.

Intravenous immunoglobulin (IVIg) preparations are increasingly being used in the treatment of neuroautoimmune diseases. Although for most part this treatment is safe, serious side effects such as thromboembolic events have been reported. We report on 7 patients who suffered a thromboembolic event while being treated with IVIg. Four patients suffered a stroke or transient ischemic attack, 1 an inferior wall myocardial infarction, 1 a deep venous thrombosis, and 1 a retinal artery infarct. The age range of the patients was 57-81 and most had underlying risk factors, such as hypertension, hypercholesterolemia, atrial fibrillation, history of vascular disease and stroke, and deep venous thrombosis. Three patients received multiple IVIg infusions before suffering a thromboembolic complication. Therefore, the clinicians should be vigilant about the possibility of thromboembolic complications with each IVIg infusion and be especially judicious with the use of IVIg in patients with underlying risk factors.

Multiple Symmetric Lipomatosis (Madelung's Disease) Caused by the MERRF (A8344G) Mutation: A Report of Two Cases and Review of the Literature.

Multiple symmetric lipomatosis (MSL) was first described by Brodie in 1846 and is characterized by accumulation of non-encapsulated lipomas in the cervical-cranial-thoracic region. Alcohol consumption is regarded as essential in lipoma development by some. Mitochondrial dysfunction was first reported in 1991. Since then, there has been controversy regarding etiology of MSL, with a number of studies supporting and some refuting the role of mitochondrial dysfunction. We report on 2 cases of MSL with pathologic (ragged-red fibers) and molecular (A8344G mutation) features of mitochondrial dysfunction. A literature review revealed that mitochondrial gene dysfunction was evident in 28% of MSL cases. Furthermore, the MERRF mutation (A8344G) was detected in 16% and mitochondrial gene deletions in 12% of MSL cases. Therefore, clinicians need to be vigilant of the fact that a significant proportion of the MSL phenotype results from mitochondrial gene mutations and/or deletions.