We studied a patient with somatic growth failure with easy fatigability, myopathy with mitochondrial abnormality, increased lactate and pyruvate in blood and CSF, mental retardation, seizure, myoclonus, deafness, cerebellar ataxia, and blindness with macular degeneration and optic atrophy. Pathologic findings included multiple brain infarctions and massive calcification in the basal ganglia. Biochemical studies of isolated mitochondria revealed decreased oxygen consumption in skeletal muscle, diaphragm, and brain, suggesting an abnormality in the respiratory chain.
On admission, the patient was 158 cm in stature, 44.5 kg in weight. He had macroglossia and a high arched palate. His head, mandible, and chest showed a mild deformity. He was mentally normal. Mild weakness and atrophy of the proximal muscles of the extremities were noted with winging of the scapula.
References'Editorial. Brain death. Lancet 1981;i:363-5. 2 Guidelines for the determination of death:Report of the medical consultants on the diagnosis of death to the president's commission for the study of ethical problems in medicine and biomedical and behavioral research. Neurology (NY)
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