Summary
A case of minicore diseases (MCD) detected in a 10-year-old boy was reported and the nosological entity of this “myopathy” discussed. Its pathogenesis was unknown. Similar findings have been reported in many different conditions of human and experimental pathology. This suggests the possibility that at least some “core diseases” (central-, mini-, multicore myopathies), might not be diseases but just tissue syndromes. The possible relationship between these myopathies and malignant hyperthermia is stressed.
Zusammenfassung
Bericht über einen Fall von Minicore Disease, entdeckt bei einem 10jährigen Knaben. Nosologie und Pathogenese dieser “Myopathie” werden erörtert. Die nicht seltene Feststellung von “cores” bei Krankheitszuständen unterschiedlicher Genese sowie unter verschiedenen experimentellen Bedingungen schließt nicht aus, daß zumindest ein Teil dieser “Core-Diseases” (Central-, Mini-, Multicore D.) keine nosologischen Einheiten, sondern vielmehr Gewebssyndrome sein könnten. Auf die möglichen Beziehungen zwischen Core Diseases und maligner Hyperthermie wird hingewiesen.
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References
Engel AG, Gomez MR, Groover RV (1971) Multicore disease: A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers. Mayo Clin Proc 46:666–681
Currie S, Noronha M, Harriman D (1974) Minicore disease. Excerpta Medica International Congress Series 334:12
Lake BD, Cavanagh N, Wilson J (1977) Myopathy with minicores in siblings. Neuropathol Applied Neurobiol 3:159–167
Mukoyama M, Matsuoka Y, Kato H, Sobue I (1973) Multicore disease. Clin Neurol (Tokyo) 13:221–227
Tanimura R, Suzuki H, Yokota J, Segawa M, Fukuyama Y (1974) Multicore myopathy. A case of congenital non progressive myopathy associated with “multicore” changes of muscle fibers. Clin Neurol (Tokyo) 14:613–622
Heffner R, Cohen M, Duffner P, Daigler G (1976) Multicore disease in twins. J Neurol Neurosurg Psychiatry 39:602–606
Bonnette H, Roelofs R, Olson WH (1974) Multicore disease: report of a case with onset in middle age. Neurology (Minneap) 24:1039–1044
Beckmann VR, Ketelsen UP, Noetzel H, Grigoriadis P (1973) “Multicore disease”: Eine neue kongenitale Myopathie. Kinderarzt 4:631–633
Pellissier JF, De Barsy TH, Faugere MC, Rebuffel P (1979) Type III glycogenosis with multicore structures. Muscle Nerve 2:124–132
Engel AG, Gomez MR (1976) Congenital myopathy associated with multifocal degeneration of muscle fibers. Trans Am Neurol Assoc 91:222–223
Frank JP, Harati Y, Butler IJ, Nelson TE, Scott CI (1980) Central core disease and malignant hyperthermia syndrome. Ann Neurol 7:11–17
Dubowitz V (1978) Muscle disorders in childhood. In: Major problems in clinical pediatrics, Vol XVI. WB Saunders, London
Patterson VH, Hill TRG, Fletcher PJH, Heron JR (1979) Central core disease. Clinical and pathological evidence of progression within a family. Brain 102:581–594
Bethlem J, van Gool J, Hülsman WC, Meijer AEFH (1966) Familial non-progressive myopathy with muscle cramps after exercise. A new disease associated with cores in the muscle fibers. Brain 89:569–588
Engel WK, Foster JB, Hughes BP, Huxley HE, Mahler R (1961) Central core disease — an investigation of a rare muscle cell abnormality. Brain 84:167–185
Isaacs H, Heffron JJA, Badenhorst M (1975) Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study. J Neurol Neurosurg Psychiatry 38:1177–1186
Morgan-Hughes JA, Brett EM, Lake BD, Tome FMS (1973) Central core disease or not? Observations on a family with a non-progressive myopathy. Brain 96:527–536
Mrozek K, Strugulska M, Fidzianska A (1970) A sporadic case of central core disease. J Neurol Sci 10:339–348
Shy GM, Magee KR (1956) A new congenital non-progressive myopathy. Brain 79:610–621
Telerman-Toppet N, Gerard JM, Coers C (1973) Central core disease. A study of clinically unaffected muscle. J Neurol Sci 19:207–223
Palmucci L, Schiffer D, Monga G, Mollo F, de Marchi M (1978) Central core disease: Histochemical and ultrastructural study of muscle biopsies of father and daughter. J Neurol 218:55–62
Karpati G, Carpenter S, Eisen AA (1972) Experimental core-like lesions and nemaline rods. A correlative morphological and physiological study. Arch Neurol 27:237–251
Afifi AK, Smith JW, Zellweger H (1965) Congenital nonprogressive myopathy. Central core disease and nemaline myopathy in one family. Neurology 15:371–381
Denborough MA, Dennet X, Anderson RMGD (1973) Central core disease and malignant hyperpyrexia. Br Med J I:272–273
Eng GD, Epstein BS, Engel WK, McKay DW, McKay R (1978) Malignant hyperthermia and central core disease in a child with congenital dislocated hips. Arch Neurol 35:189–197
Isaacs H, Barlow MB (1974) Central core disease associated with elevated creatine phosphokinase levels. Two members of a family known to be susceptible to malignant hyperpyrexia. S Afr Med J 48:640–642
Gullotta F, Helpap B (1975) Histologische, histochemische und elektronenmikroskopische Befunde bei maligner Hyperthermie. Virchows Arch [Pathol Anat] 367:181–194
Fukuhara N, Hoshi M, Mori S (1977) Core/Targetoid fibers and multiple cytoplasmic bodies in organophosphate neuropathy. Acta Neuropathol (Berl) 40:137–144
Graham DI, Bonilla E, Gonatas NK, Schotland DL (1976) Core formation in the muscles of rats intoxicated with triethyltin sulfate. J Neuropathol Exp Neurol 35:1–13
Gullotta F (1979) Pathologie der Skelettmuskulatur. In: Büchner F, Grundmann E (Hrsg) Lehrbuch der speziellen Pathologie, 6. Aufl. Urban & Schwarzenberg, München Wien Baltimore, S 555–567
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Gullotta, F., Pavone, L., La Rosa, M. et al. Minicore myopathy. Klin Wochenschr 60, 1351–1355 (1982). https://doi.org/10.1007/BF01716214
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DOI: https://doi.org/10.1007/BF01716214