PubMed · 2175342
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
M Kinoshita. 1990-09-10. [Myopathy].. https://pubmed.ncbi.nlm.nih.gov/2175342/
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
OBJECTIVE: To describe three patients with cytochrome c oxidase deficiency. DESIGN: Patient series. SETTING: Tertiary care children's hospital in Arkansas. PARTICIPANTS: A sibling pair and an unrelated patient referred for evaluation and found to have cytochrome c oxidase deficiency. INTERVENTIONS: None. MEASUREMENTS/MAIN RESULTS: Affected individuals had the characteristic presentation of psychomotor regression, growth deficiency, and lactic acidosis. The severity of the clinical course was found to correlate with the lactate-pyruvate ratio. Two of the infants had evidence, on magnetic resonance imaging, of subacute necrotizing encephalomyelopathy (Leigh disease). The most severely affected child had an unusual presentation of prenatal onset of structural anomalies including glabellar prominence, abnormal hair, loose skin, inguinal hernias, and hypospadias. CONCLUSIONS: The presentation and clinical course of cytochrome c oxidase deficiency are highly variable and the diagnosis of cytochrome c oxidase deficiency should be considered in all patients with lactic acidosis or subacute necrotizing encephalomyelopathy. Particular consideration should be given to this diagnosis when lactic acidosis is found in a neonate with structural anomalies.
Explore the source record for details and available documents.
A case of 55-year-old male with distal myopathy with rimmed vacuole formation is reported. He first noticed dragging of his legs at the age of forty-three. Two years later, he was evaluated to have muscle wasting and weakness in lower legs. In another ten years, he became unable to stand or walk unaided. On physical examination, proximal limb muscles were more severely affected than distal limb muscles. Notably, muscle strength of the quadriceps femoris muscles were weak (MRC Scale 3/5), compared to hamstrings, tibialis anterior muscle and gastrocnemius muscle (4/5). Serum creatine kinase, electromyography, nerve conduction velocities were all compatible with this diagnosis. A computed tomography of the musculoskeletal system was consistent with physical findings. Muscle biopsy revealed many fibers with typical rimmed vacuoles (approximately 6% of fibers). Additionally, small amount of ragged-red fibers (0.5%) was noted. Histochemical reaction showed a focal deficiency of cytochrome c oxidase. This case suggests that during the longstanding course of the illness, proximal limb muscles may be more severely affected, and quadriceps femoris muscle may be predominantly involved.