Carrier detection in Duchenne muscular dystropy.

We investigated the number of echinocytes, the serum hemopexin level, and spectrin band II phosphorylation in the blood of normal subjects, patients, and carriers of Duchenne dystrophy. The patients and carriers exhibited quantitatively significant differences with respect to controls.

Polyneuropathy in hypereosinophilic syndrome.

We investigated two patients with the idiopathic hypereosinophilic syndrome and peripheral neuropathy. Clinical, EMG, and pathological findings were consistent with axonal polyneuropathy. Morphologic changes of the nerve biopsies suggested axonal damage secondary to increased endoneurial pressure from leakage of capillaries. We postulate that endothelial cell damage, followed by nerve edema, is the first step in the pathogenesis of peripheral neuropathy in these patients.

Deformed erythrocytes in muscular dystrophies.

Because of previous reports of a possible correlation between echinocytogenesis and muscular dystrophies, we investigated the time-dependent development of echinocytes in the blood of normal subjects, patients, and healthy carries of Duchenne dystrophy. There was a quantitatively significant increase of echinocytes in patients and carriers.

Cysts of the atlantoaxial joint: excellent long-term outcome after posterolateral surgical decompression. Report of two cases.

Articular cysts of the atlantoaxial joint are infrequently described and probably an underreported cause of upper cervical spinal cord compression. The authors report on two patients with cysts located posteriorly of the dens in whom a C-1 and partial C-2 hemilaminectomy with subtotal resection of the cyst provided adequate and stable decompression 1 year postoperatively. The clinical and magnetic resonance imaging features and the surgical approach are discussed after a review of the literature.