ABSTRACT
A progressive degenerative myopathy has been well described in hypokalemic periodic paralysis but is not as widely recognized in hyperkalemic periodic paralysis. We studied four families with the latter disease in which some members developed a progressive myopathy. Episodes of paralysis were prolonged, lasting for months in some cases, and in one case paralysis was sufficiently severe to require ventilatory support. The progressive myopathy tended to develop at a time when attacks of paralysis were decreasing in frequency. Muscle biopsy specimens showed variability in fiber size, internal nuclei, and fibers with vacuoles. Electron microscopy showed myofibrillary degeneration and tubular aggregates. An abnormal biopsy specimen was more common in older patients. Our experience suggests that a progressive myopathy is as common in hyperkalemic periodic paralysis as it is in the hypokalemic disorder.
Subject(s)
Muscular Diseases/complications , Paralyses, Familial Periodic/complications , Adolescent , Adult , Female , Humans , Hyperkalemia/complications , Hyperkalemia/genetics , Hyperkalemia/pathology , Male , Middle Aged , Muscular Diseases/genetics , Muscular Diseases/metabolism , Muscular Diseases/pathology , Paralyses, Familial Periodic/genetics , Paralyses, Familial Periodic/metabolism , Paralyses, Familial Periodic/pathology , PedigreeABSTRACT
A 15-year-old girl evidenced a slowly progressive central nervous system degenerative disorder. The illness had begun and progressed between ages 1 and 12 years, with ataxia, spasticity, choreoathetosis, early-onset seizures (which later ceased), and mild retardation. At age 13 she had developed rapidly progressive generalized weakness and atrophy, indicating peripheral nervous system involvement. Laboratory investigation revealed the presence of sea-blue histiocytes in the bone marrow without evidence of a disorder of sphingolipid metabolism or neuronal ceroid lipofuscinosis. Muscle biopsy showed large- and small-group atrophy, and sural nerve biopsy demonstrated axonal degeneration. This patient's illness appears to be a hitherto undescribed form of "sea-blue histiocytosis" associated with neurological dysfunction in children.
Subject(s)
Anterior Horn Cells/ultrastructure , Axons/ultrastructure , Motor Neurons/ultrastructure , Nerve Degeneration , Sea-Blue Histiocyte Syndrome/pathology , Adolescent , Bone Marrow/pathology , Cerebral Palsy/pathology , Cytoplasmic Granules/ultrastructure , Female , Humans , Inclusion Bodies/ultrastructure , Muscles/pathology , Muscular Atrophy/pathology , Myelin Sheath/ultrastructure , Skin/pathology , Sural Nerve/pathologyABSTRACT
In 14 members of four families with a hereditary syndrome of exertional myalgia, five of eight muscle biopsies from symptomatic individuals showed histochemical and biochemical absence of myoadenylate deaminase (MADA). In the others, MADA biochemical activity was normal in two and reduced but not absent (intermediate level) in one. Asymptomatic relatives had normal histochemical MADA activity, but three had intermediate biochemical levels. In a survey of 302 routine muscle biopsies, 3 of 36 patient with myalgia had absence of MADA. Three of 266 biopsied for other conditions were MADA-deficient. Despite some inconsistencies, MADA deficiency seems to be relevant to this clinical syndrome.