Anti-TNF-α therapy in the management of severe neurosarcoidosis: a report of five cases from a single centre and literature review.

Neurologic manifestations are found in 5-15 % of patients with sarcoidosis. This granulomatous disease may affect any part of the peripheral or the central nervous system, being potentially severe and difficult to treat. Corticosteroids are the cornerstone of therapy in sarcoidosis. However, some patients become resistant or experience side effects to corticosteroids. In these patients, second line therapies including immunosuppressive drugs such as methotrexate, azathioprine, mycophenolate, cyclophosphamide and leflunomide have been used. Anti-TNF-α drugs have been proposed as a therapeutic option for those who are refractory to immunosuppressive drugs or initially in cases of severe sarcoidosis. We report on 5 patients with neurosarcoidosis treated with anti-TNF-α drugs in our center. A literature review of patients with neurosarcoidosis treated with anti-TNF-α drugs was conducted. In our series successful response to anti-TNF-α therapy was achieved. However, the high frequency of relapses following anti-TNF-α discontinuation makes necessary a close follow-up of these patients when the biologic agent is stopped.

Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion.

Clinical, electrophysiologic and molecular studies were performed on at-risk members of 14 families with hereditary neuropathy with liability to pressure palsies (HNPP), in order to detect asymptomatic carriers of the 17p11.2 deletion. Sporadic cases due to de novo deletion accounted for 21% of the investigated HNPP families. Approximately one half of deletion carriers were asymptomatic and did not display significant signs on clinical examination. The electrophysiologic hallmark in both symptomatic and asymptomatic deletion carriers was the presence of a nonuniform sensorimotor demyelinating polyneuropathy with conduction abnormalities preferentially located at common entrapment sites and distal nerve segments. A perfect correlation was found between the molecular and electrophysiologic analyses. A reliable screening method to detect clinically unaffected carriers of the deletion in families with HNPP was the evaluation of motor conduction in at least two nerves across usual entrapment sites, especially the ulnar nerve at the elbow, and evaluation of sensory conduction in the sural nerve. In sporadic cases due to a de novo deletion, electrophysiologic studies were suggestive but not sufficient for the diagnosis, and molecular analysis represented the most sensitive diagnostic tool.

Continuous facial myokymia in multiple sclerosis: treatment with botulinum toxin.

Continuous facial myokymia (CFM) is an involuntary undulating, vermicular movement that spreads across facial muscles and is associated with a characteristic electromyographic pattern. It is an infrequent clinical sign that almost always occurs in intrinsic brainstem lesions, particularly in multiple sclerosis (MS). It is usually present for only a few weeks, but it may persist for long periods of time being very troublesome for patients. We report 2 cases with MS and continuous hemifacial myokymia persisting for up to 1 month which disappeared after injection of botulinum toxin. Botulinum toxin A (BTX-A) has been used successfully to treat a variety of focal dystonias and occasionally in orbicularis myokymia, but its use has not been reported in continuous hemifacial myokymia. BTX-A appears to be effective and safe for treating persistent facial myokymia in MS patients.

Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases.

We report the clinical and molecular study of three unrelated homozygous myotonic dystrophy patients. In the first family, the homozygous patient shows the classical form of the disease with two DM alleles of very different expansion sizes (1000 and 60 repeats). In the second family, the homozygous patient is mildly affected and carries a minimally expanded allele (64 repeats) and a "normal" allele (38 repeats) that increases in size when transmitted. Such an intergenerational expansion of an allele in this range of repeats has not been reported to date. The third homozygous case has late onset bilateral cataracts as the only symptom. She has two minimally expanded alleles (51 and 120 repeats) that showed different intergenerational enlargement during transmission to the next generation.

Guillain-Barré syndrome in Cantabria, Spain. An epidemiological and clinical study.

Seventy-one patients with Guillain-Barré syndrome (GBS) were retrospectively selected from within a defined area (Cantabria) in northern Spain, from 1975 to 1988. Excluding two non-resident cases, epidemiological analysis was based on 69 cases. The annual incidence rates were stable during the 14-year period of study with an average incidence of 0.95 (age-adjusted, 0.86) cases per 100,000 population. No significant difference was found for sex, urban or rural residence and there was no significant seasonal clustering. Antecedent event were recorded in 57% of patients, the most frequent events being upper respiratory infection and gastroenteritis. No association between use of gangliosides and the syndrome was found. Eight patients had variant syndromes including Fisher's syndrome (2 cases), and axonal (4 cases) and sensory (2 cases) GBS. Recurrences occurred in 3 cases. Excluding nine patients with incomplete follow-up and two with Fisher's syndrome, clinical analysis was based on 60 cases. Patients were divided into three groups as a function of their peak weakness. Significant features of the severe group were a requirement for ventilation, presence of bulbar palsy or dysautonomia and a longer duration of the plateau phase. However, it was not possible at an early stage of the clinical course to predict future motor deficit. Four (6.7%) patients belonging to the severe group died during the acute phase of the disease. No specific treatment for GBS was given. Outcome was assessed by means of serial examination up to 24 months after the onset of symptoms using a functional scale. At 3, 6 and 24 months 70%, 46% and 12% of patients, respectively, had a poor outcome.(ABSTRACT TRUNCATED AT 250 WORDS)

Congenital giant pigmented nevus and intracranial arteriovenous malformation.

We describe a case with congenital giant pigmented nevus and intracranial arteriovenous malformation. This association should be included in the spectrum of neurocutaneous syndromes related to congenital giant pigmented nevus.

Intravenous lidocaine for status epilepticus.

Intravenous lidocaine successfully controlled convulsive status epilepticus in eight patients. Lidocaine was administered, as a diazepam substitute, to elderly patients with chronic obstructive lung disease and to those patients unresponsive to the stated doses of intravenous diazepam. Although transient disappearance of seizures was noted after an initial dose of 100 mg, infusion of 200 mg was necessary to effectively control status. Continuous lidocaine infusion (3.5 mg/kg/h) was used in one case with good results. Undesirable side effects were not seen. The basic mechanisms for possible anticonvulsant action are reviewed. Lidocaine seems to be an effective and safe drug in convulsive status epilepticus. We suggest that lidocaine may be used as a first-line drug, as a diazepam substitute, in the treatment of convulsive status epilepticus in patients in whom respiratory depression is undesirable and in those who do not respond to intravenous diazepam.