The stiff-person syndrome is a disorder of persistent, painful muscle contractions predominately affecting the axial musculature. We describe a patient with this disorder and review its pathophysiology. Molecular biologic and immunologic techniques have recently added to the understanding of the mechanism of this disorder. Association with diseases such as diabetes, vitiligo and hypothyroidism have strengthened the auto-immune nature of this syndrome. Auto-antibodies against glutamic acid decarboxylase (GAD), an intraneuronal enzyme, have been implicated in the etiology of this unique disease. Therapeutic intervention with agents such as benzodiazepines that modify central GABAergic activity have demonstrated significant benefit in patients with stiff-person syndrome.

We report a fifty three year old man who presented with progressive visual loss. Investigation disclosed a giant aneurysm with optic nerve compression, which was successfully treated surgically. The patient had typical skin lesions of tuberous sclerosis, but did not suffer from a seizure disorder or mental retardation. In the past he had had an enucleation for glaucoma secondary to a retinal phakoma.

Cerebral aneurysms are discussed in relation to the tuberous sclerosis disease process. After review of the literature, we propose that the aneurysms are secondary to dysplastic change in the vessel walls, this is in keeping with the abnormal tissue proliferations in this disease.