Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31.

Distal myopathy refers to a heterogeneous group of disorders in which the initial manifestations are weakness and atrophy of the hands and feet. We report a family segregating an autosomal dominant distal myopathy, with multiple affected individuals in whom vocal cord and pharyngeal weakness may accompany the distal myopathy, without involvement of the ocular muscles. To our knowledge, this pedigree displays a distinct distal myopathy with the added features of pharyngeal and vocal cord dysfunction (VCPDM) that has not been previously reported. We mapped the MPD2 gene for VCPDM to chromosome 5q within a 12-cM linkage interval between markers D5S458 and D5S1972 in a large pedigree (a maximum LOD score of 12.94 at a recombination fraction of 0 for D5S393) and combined genome screening and DNA pooling successfully adapted to fluorescent markers. This technique provides for the possibility of fully automated genome scans.

Utility of repeat brain imaging in stroke.

PURPOSE: To determine the utility of repeat brain imaging in patients with stroke. METHODS: We reviewed the medical records of 98 consecutive patients in whom stroke was diagnosed between January 1 and December 31, 1991. We noted the number of brain scans performed, the indications cited, and whether repeat imaging changed the therapeutic decisions or final diagnosis. RESULTS: Ninety-eight patients underwent 221 procedures, with 123 repeat imaging studies (98 CT scans and 25 MR images). Sixteen patients had only one scan; 51 had two, and 31 had three or more. Indications for repeat imaging were explicitly documented in 62 (50%) of 123 repeated scans and inferred in another 41 (33%). In 20 (16%), no definite indication could be determined. Indications included lack of acute abnormal imaging findings on the initial scan (n = 48, 39%); compliance with stroke research protocol (n = 11, 9%). In none of the 82 patients did the repeated scan change the diagnosis; therapy was changed in only two (2%) of 82 patients (aspirin was discontinued). CONCLUSIONS: Repeat imaging in patients rarely results in changes in the initial diagnosis or the therapeutic plan; indications for repeat imaging are frequently not clearly stated; in certain groups of patients with stroke, repeat imaging may not be useful.

Central retinal artery occlusion from carotid dissection diagnosed by cervical computed tomography.

BACKGROUND: Carotid dissection may lead to many different types of neurological deficits, both transient and permanent. CASE DESCRIPTION: We present a patient with an isolated central retinal artery occlusion who was found to have an ipsilateral carotid dissection by neck computed tomographic scan, later confirmed by angiography. CONCLUSIONS: This is the first reported case of carotid dissection causing central retinal artery occlusion without any other neurological deficits. It demonstrates the diagnostic usefulness of computed tomographic imaging in such cases.

ENG-MRI correlates in cerebellar oculomotor dysfunction.

This study correlates ENG and MRI findings in six patients with cerebellar eye movements. For each subject, both tests independently support the presence of a cerebellar tract abnormality. In two patients, MRI studies confirmed the site of cerebellar dysfunction previously demonstrated by ENG. Although the number of patients is small, the strong correlation (100%) indicates that ENG remains a sensitive method for detection and localization of the origin of cerebellar eye movements. The physiologic information provided by ENG is supported anatomically by MRI. The cerebellar eye movement abnormalities are briefly reviewed.