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Mitochondrial myopathies: an unusual cause of hypotonia in infants and children
Author(s) -
KEYES MARY A.,
WIELE BARBARA,
STEAD STANLEY W.
Publication year - 1996
Publication title -
pediatric anesthesia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.704
H-Index - 82
eISSN - 1460-9592
pISSN - 1155-5645
DOI - 10.1111/j.1460-9592.1996.tb00459.x
Subject(s) - medicine , hypotonia , mitochondrial myopathy , muscle biopsy , malignant hyperthermia , muscle hypotonia , myopathy , pediatrics , congenital myopathy , disease , mitochondrial disease , biopsy , pathology , intensive care medicine , mitochondrial dna , biochemistry , chemistry , gene
SUMMARY Children frequently undergo muscle biopsy for the workup of hypotonia under general anaesthesia which poses unique risks in patients with undiagnosed muscle disease. Mitochondrial myopathies are a relatively newly recognized cause of myopathy and multisystem disease in both adults and children. The diagnosis is complex. In addition to causing myopathy, there are metabolic derangements present in some cases that may be life‐threatening. We present three cases of children with hypotonia where the diagnosis was suspected in two patients, and confirmed in the third. The question of whether patients with mitochondrial myopathies are at increased risk for developing malignant hyperthermia is discussed.