R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update.

Familial hemiplegic migraine (FHM) type 1 is a rare monogenic dominant autosomal disease due to CACNA1A gene mutations. Besides the classical phenotype, mutations on CACNA1A gene are associated with a broader spectrum of clinical features including cerebellar ataxia, making FHM1 a complex channelopathy. We report the case of a patient carrying the p.

A case of posterior reversible encephalopathy during polyarteritis nodosa vasculitis.

Posterior reversible encephalopathy is a distinctive syndrome associated with different diseases and drugs. Disease evolution is frequently favorable with an adequate treatment. Damage typically involves parietal-occipital lobes even if a more anterior diffusion has been described.

Cervical cerebral artery dissection: a multicenter prospective study (preliminary report).

Forty-nine cases of dissection of the internal carotid and vertebral arteries are reported in our prospective multicenter study of 35 men and 14 women, with a mean age of 46.77 years. (range 17-60 years).

[2 cases of acute cholestasis caused by ticlopidine].

We report the case of two patients suffered from cholestatic jaundice occurred 3-4 weeks after starting ticlopidine therapy. In both cases the diagnosis was made by ruling out any other known cause of acute hepatitis or cholestasis. One patient underwent liver biopsy, which showed a typical intralobular cholestatic pattern and a slight lymphocytic infiltration of the portal tracts.

Colchicine in the treatment of mixed cryoglobulinemia.

Objective: The best treatment for cryoglobulinemic syndrome (CS) is still an unsolved problem. Recently colchicine has been successfully used to treat vasculitides and other immune-mediated diseases. Therefore, we undertook to treat 17 CS patients with colchicine (1 mg/day for 6-48 months), 8 of them with essential mixed cryoglobulinemia (EMC) and 9 with CS secondary to liver disease.