Mitochondrial encephalomyopathy: variable clinical expression within a single kindred

Mitochondrial encephalomyopathy: variable clinical expression within a single kindred

Crimmins D; Morris JG; Walker GL; Sue CM; Byrne E; Stevens S; Jean-Francis B; Yiannikas C; Pamphlett R

Journal Of Neurology, Neurosurgery, And Psychiatry

1993

Child; Female; Humans; Male; Adult; Aged; Middle Aged; adolescent; Preschool; Q3 Literature Search; Tomography; Pedigree; X-Ray Computed; DNA/analysis; Brain/radiography; Mitochondrial Encephalomyopathies/genetics/pathology/radiography; Muscles/pathology/ultrastructure

The clinical manifestations of mitochondrial encephalomyopathy are described in four generations of a single kindred. The age of onset of major neurological disturbance varied from 3-70 years. In some patients, deafness was the only manifestation; in others, recurrent bouts of status epilepticus associated with focal neurological deficits and headache, caused severe disability or death. Examples of all three adult forms of mitochondrial encephalomyopathy: MELAS, MERFF and Kearns Sayre syndrome, were represented within the kindred. Associated features included deafness, short stature, non-insulin-dependent diabetes mellitus, migraine, peptic ulceration and severe constipation. The nt 3243 A-G MELAS mutation was detected in two members of the kindred. This study highlights the diversity of clinical expression of a mitochondrial mutation within a single kindred.

1993

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