Syndrome de Susac chez un homme.

The association of an acute encephalopathy, neurosensory hearing loss and retinal branch artery occlusions in a 35 year old man as well as the absence of systemic disease suggest the diagnosis of Susac's syndrome. This is the eighth male case described, the syndrome being more frequently reported in females

[Susac's syndrome in a 35-year-old man.]

The association of an acute encephalopathy, neurosensory hearing loss and retinal branch artery occlusions in a 35 year old man as well as the absence of systemic disease suggest the diagnosis of Susac's syndrome. This is the eighth male case described, the syndrome being more frequently reported in females

Coenzyme Q-responsive Leigh's encephalopathy in two sisters.

A 31-year-old woman had encephalopathy, growth retardation, infantilism, ataxia, deafness, lactic acidosis, and increased signals of caudate and putamen on brain magnetic resonance imaging. Muscle biochemistry showed succinate:cytochrome c oxidoreductase (complex II-III) deficiency. Both clinical and biochemical abnormalities improved remarkably with coenzyme Q10 supplementation. Clinically, when taking 300mg coenzyme Q10 per day, she resumed walking, gained weight, underwent puberty, and grew 20cm between 24 and 29 years of age. Coenzyme Q10 was markedly decreased in cerebrospinal fluid, muscle, lymphoblasts, and fibroblasts, suggesting the diagnosis of primary coenzyme Q10 deficiency. An older sister has similar clinical course and biochemical abnormalities. These findings suggest that coenzyme Q10 deficiency can present as adult Leigh's syndrome

Cervical neuroma associated with multiple intracranial arachnoid cysts

SCOPUS: ar.jinfo:eu-repo/semantics/publishe