A child with typical histopathologic changes of Leigh's subacute necrotizing encephalomyelopathy presented with a chronic demyelinating neuropathy. During her 11-year course, she developed an unusual myopathy and cardiomyopathy in addition to many of the previously described manifestations of Leigh's disease. Despite an extensive evaluation, the biochemical basis of her condition was never identified. This case demonstrates another unique constellation of clinical alterations associated with subacute necrotizing encephalomyelopathy, and that chronic demyelinating neuropathy can be an important initial presentation of the disease. (J Child Neurol 1991;6:159-163).
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References
1.
Walter GF, Beucher JM, Martin JJ, et al: Leigh's disease-several nosological entities with an identical histopathological complex. Neuropathol Appl Neurobiol1986;12:95-107.
2.
Pincus JH, Itohaoa Y., Cooper JR: Enzyme inhibiting factor in subacute necrotizing encephalopathy. Neurology1969; 19:841-845.
3.
Goebel HH, Bardosi A., Friede RL: Sural nerve biopsy studies in Leigh's subacute necrotizing encephalomyelopathy . Muscle Nerve1986;9:165-173.
4.
Moosa A.: Motor nerve conduction velocities in Leigh's encephalomyelopathy. Arch Dis Child1978;53:62-65.
5.
Younossi-Hartenstein A., Vierbuchen M., Roth B., Schroeder R.: Renal lesions in subacute necrotizing encephalomyelopathy . Int J Pediatr Nephrol1986;7:117-120.
6.
Kluitmann O. , Beaumann HG, Kratz HW, et al: Acute course of Leigh syndrome with hypertrophic cardiomyopathy in female infant. Monatsschr Kinderheilkd1985;133:688-693.
7.
Langes K., Frenzl H., Seitz R., Kluitmann O.: Cardiomyopathy associated with Leigh's disease. Virchows Arch A 1985; 407:97-105.
8.
Egger J., Pincott JR, Wilso J., Erdohazi M.: Cortical subacute necrotizing encephalomyelopathy: A study of two cases with mitochondrial dysfunction. Neuropediatr1984 ;15:150-158.
9.
Crosby TW, Chou SW: "Ragged-red" fibers in Leigh's disease. Neurology1974;24:49-54.
10.
Rutledge JC , Haas JE, Monnat R., Milsteen JM: Hypertrophic cardiomyopathy is a component of subacute necrotizing encephalomyelopathy. J Pediatr1982;101:706-710.
11.
Jerusalem F. , Engel AG, Gomez MR: Sarcotubular myopathy . Neurology1973;23:897-906.
12.
Van Erven PM, Gabriels FJ, Ruitenbeek W., et al: Mitochondrial encephalomyelopathy association with NADH deficiency. Arch Neurol1987;44:775-778.
13.
Kretzschmar HA, DeArmond SJ, Koch TK, et al: Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease). Pediatrics1987; 79:370-373.
14.
Orts WF, Scholte HR, Loonen MC, et al: Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy . J Neurol Sci1987;77:103-115.
15.
Pronick E., Kulczycha H., Chmelek J., et al: Suspected pyruvate carboxylase deficiency in four children with Leigh disease. Neurol Neurochir Pol1986;20:89-94.
16.
Miyabayshi S. , Ito T., Narisawa K., et al: Biochemical studies in 28 children with lactic acidosis in relation to Leigh's encephalomyelopathy . Eur J Pediatr1985;143:278-283.
17.
Miyabayashi S. , Narisawa K., Kobayashi Y., Morniaga S.: Cytochrome c oxidase deficiency in two siblings with Leigh encephalomyelopathy. Brain Dev1984;6:362-372.
18.
Ohtake M., Takada G., Miyabayashi S., et al: Pyruvate decarboxylase deficiency in a patient with Leigh's encephalomyelopathy. Tohoku J Exp Med1982 ;137:379-386.
19.
Van Erven PM, Gabreels FJ, Ruitenbeek W., et al: Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, maleate and 2-oxoglutarate in muscle and liver. Acta Neurol Scand1985;72:36-42.
20.
Hansen TL, Christensen E., Grandt NJ: Studies on pyruvate carboxylase, pyruvate decarboxylase and lipoamide dehydrogenase in necrotizing encephalopathy. Acta Pediatr Scand1982;71:263-267.
21.
Kustermann KB, Kuhn B., Harzer K., et al: Pyruvate dehydrogenase activity is not deficient in the brains of three autopsied cases with Leigh disease. Hum Genet1984;68:51-53.
22.
Willems JL, Monnens LAH, Trijbels JMF, et al: Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue. Pediatrics1977 ;60:850-857.
23.
DiMauro S., Servidei S., Zeuiani M., et al: Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol1987;22:498-506.
24.
Hinman LM, Sheu K-FR, Kim YT, Blass JP: Deficiency of pyruvate dehydrogenase complex (PDHC) in Leigh's disease fibroblasts: An abnormality in lipoamide dehydrogenase affecting DDHC activation . Neurology1989;39:70-75.
25.
Evans OB: Pyruvate decarboxylase deficiency in a patient with subacute necrotizing encephalomyelopathy . Ann Neurol1981;38:515-519.
