Arquivos de neuro-psiquiatria
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Case Reports
Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity.
Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally observed. ⋯ Bethlem myopathy should be considered in the differential diagnosis of UCMD, even in patients without fingers contractures; overlap between Ullrich and Bethlem phenotypes can be supposed.
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Tolosa-Hunt syndrome is an entity of rare occurrence and unknown etiopathogenesis, expressed clinically by unilateral orbitary pain associated with simple or multiple oculomotor paralysis, which resolves spontaneously but may recur. We present a series of six cases taken care in our ambulatory, which fulfill the diagnostic criteria for Tolosa Hunt syndrome according to the International Headache Society Classification of 2004. There are also emphasized the demographic data of this series of patients, their 12 months follow-up, investigative studies and responsiveness to corticosteroids. As the diagnosis is always of exclusion, literature revision is focused on differential diagnosis of painful ophthalmoplegic syndromes.
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Vestibular paroxysmia is a syndrome of cross-compression of the VIII cranial nerve and was first described by Jannetta who used the term "disabling positional vertigo". This syndrome is characterized by brief attacks of vertigo, tinnitus, vestibular and auditory deficits. MRI may show the VIII nerve compression from vessels in the posterior fossa, such as the basilar, vertebral, anterior-inferior cerebellar or the posterior-inferior cerebellar arteries. ⋯ This study describes eight patients with vestibular paroxysmia. Four of them showed also clinical signs suggesting cross-compression of the V and/or VII nerve. Seven patients treated with carbamazepine had significant improvement of vertigo and tinnitus.