We report 11 children with a homogeneous clinical syndrome affecting both sexes, characterized by weakness at birth, slowly improving course, weakness of all muscle groups, arreflexia, elevated blood creatine kinase, normal nerve conduction velocity, dystrophic changes on muscle biopsy, and diffuse periventricular cortical white-matter abnormalities with sparing of corpus callosum, internal capsule, and brain stem. We compare them to 48 other previously reported similar cases and designate them as altered myelin radiographic pattern congenital muscular dystrophy (CMD), which is the same as occidental CMD. We compare them to the other presently accepted phenotypes: progressive Fukuyama CMD, Walker-Warburg or cerebral-ocular CMD, and Santavuori or muscle-eye-brain CMD. We suggest that the different phenotypes are alleles of the same gene, which regulates or expresses a structural protein required for muscle integrity, myelination, and formation of the cortex. Such phenotypic diversity has been established for mutations of Xp21 in X-linked muscular dystrophies. (J Child Neurol 1992;7(Suppl):S51-S63.)
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References
1.
Dubowitz V.: The muscular dystrophies, in Muscle Disorders in Childhood . London, Saunders, 1978, pp 59-64.
2.
Brooke MH: Congenital muscle disease, in A Clinician's View of Neuromuscular Diseases, 2nd ed. BaltimoreWilliams & Wilkins, 1986, pp 345-354.
3.
Walton J., Gardner-Medwin D.: Muscular dystrophies, in Sir J Walton (ed): Disorders of Voluntary Muscle, 5th ed. London, Churchill Livingstone , 1988, pp 548-551.
4.
Nonaka I., Chou SM: Congenital muscular dystrophy, in Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology, vol 41. Amsterdam, Elsevier North-Holland, 1979, pp 27-50.
Fukuyama Y. , Haruna H., Kawazura M.: A peculiar form of congenital progressive muscular dystrophy. Paediatr Univ Tokyo1960 ;4:5-8.
11.
Gubbay SS, Walton JN, Pearce GW: Clinical and pathological study of a case of congenital muscular dystrophy . J Neurol Neurosurg Psychiatry1966;29:500-508.
12.
Short JK: Congenital muscular dystrophy: A case report with autopsy findings . Neurology1963;13:526-530.
13.
Zellweger H. , Afifi A., McCormick WF, Mergner W.: Severe congenital muscular dystrophy. Am J Dis Child1967;114: 591-602.
14.
Zellweger H. , Afifi A., McCormick WF, Mergner W.: Benign congenital muscular dystrophy: A special form of congenital hypotonia. Clin Pediatr1967;6:655-663.
15.
Afifi A., Zellweger H., McCormick WF, Mergner W.: Congenital muscular dystrophy: Light and electron microscopic observations . J Neurol Neurosurg Psychiatry1969;32:273-280.
16.
Lebenthal E. , Shochet SB, Adam A., et al: Arthrogryposis multiplex congenital: Twenty-three cases in an Arab kindred. Pediatrics1970;46:891-899.
17.
Donner M., Rapola J., Somer H.: Congenital muscular dystrophy: A clinico-pathological and follow-up study of 12 patients. Neuropadiatrie1975;6:239-258.
18.
Kamoshita S. , Konishi Y., Segawa M., Fukuyama Y.: Congenital muscular dystrophy as a disease of the central nervous system. Arch Neurol1976;33:513-516.
19.
Santavouri P., Leisto J., Kruus S.: Muscle, eye and brain disease: A new syndrome . Neuropadiatrie1977 ;8(Suppl):553-558.
20.
Bernier JP, Brooke M., Naidich TP, Caroll JE: Myoencephalopathy: Cerebral hypomyelination revealed by CT scan of the head in a muscle disease. Trans Am Neurol Assoc1979;104:244-246.
21.
Dubowitz V. : Involvement of the nervous system in muscular dystrophies in man. Ann NY Acad Sci1979;317:431-439.
22.
Nogen I.: Congenital muscle disease and abnormal findings on computerized tomography . Dev Med Child Neurol1980;22: 658-663.
23.
Krijgsman JB , Barth PG, Stam FC, et al: Congenital muscular dystrophy and cerebral dysgenesis in a Dutch family. Neuropadiatrie1980;11:108-120.
24.
Yoshioka M. , Okuno T., Honda Y., Nakano Y.: Central nervous system involvement in progressive muscular dystrophy. Arch Dis Child1980;55:589-594.
25.
Serratrice G., Cros D., Pellissier JF, et al: Dystrophie musculaire congénitale . Rev Neurol (Paris) 1980;136:445-472.
26.
Yoshioka M., Okuno T., Ito M., et al: Congenital muscular dystrophy (Fukuyama type): Repeated CT studies in 19 children. Comput Tomogr1981;5:81-88.
27.
Fukuyama Y., Osawa M., Suzuki H.: Congenital progressive muscular dystrophy of the Fukuyama type—Clinical, genetic and pathological considerations. Brain Dev1981;3:1-29.
28.
McMenamin JB , Becker LE, Murphy EG: Congenital muscular dystrophy: A clinicopathologic report of 24 cases. J Pediatr1981;100:692-697.
29.
Nonaka I., Sugita H., Takada K., Kumagai K.: Muscle histochemistry in congenital muscular dystrophy with central nervous system involvement. Muscle Nerve1982 ;5:102-106.
Gobernado JM , Gimeno A.: Changes in cerebral white matter in a case of congenital muscular dystrophy. Pediatr Radiol1982;12:201-203.
32.
Egger J., Kendall BE, Efdohazi M., et al: Involvement of the central nervous system in congenital muscular dystrophy. Dev Med Child Neurol1983;25:32-42.
33.
Echenne B., Pages M., Marry-Double C.: Congenital muscular dystrophy with cerebral white matter spongiosis . Brain Dev1984;6:491-495.
34.
Fukuyama Y. , Ohsawa M.: A genetic study of the Fukuyama type congenital muscular dystrophy. Brain Dev1984;6: 372-390.
35.
Peters B., Bots G., Roos R., van Gelderen H.: Fukuyama type congenital muscular dystrophy—Two Dutch siblings . Brain Dev1984;6:406-416.
36.
Towfighi J. , Sassani JW, Suzuki K., Ladda RL: Cerebro-ocular dysplasia—Muscular dystrophy (COD-MD) syndrome. Acta Neuropathol ( Berl) 1984;65:110-123.
37.
Kohrman MH, Picchietti DL, Wollmann R., Chelmicka-Schorr EE: A variant of Fukuyama congenital muscular dystrophy in a non-Japanese child . Pediatr Neurol1986;2:290-293.
38.
Echenne B., Arthuis M., Billard C., et al: Congenital muscular dystrophy and cerebral CT scan anomalies: Results of a collaborative study of the Société de Neurologie Infantile. J Neurol Sci1986;75:7-22.
39.
Martinelli P., Gabellini AS, Ciucci G., et al: Congenital muscular dystrophy with central nervous system involvement: Case report. Eur Neurol1987;26:17-22.
40.
Yoshioka M. , Kukori S., Hideshige M.: Congenital muscular dystrophy of non-Fukuyama type with characteristic CT image. Brain Dev1987;9:316-318.
41.
Castro-Gago M, Peña-Guitián: Congenital muscular dystrophy of a non-Fukuyama type with characteristic CT images. Brain Dev1988;10:60.
42.
Echenne B.: Congenital muscular dystrophy of a non-Fukuyama type. Brain Dev1988;10:397.
43.
Yoshioka M. , Saiwai S.: Congenital muscular dystrophy (Fukuyama type)—Changes in the white matter low density on CT. Brain Dev1988;10:41-44.
44.
Sasaki M., Yoshioda K., Yanagisawa T., et al: Lissencephaly with congenital muscular dystrophy and ocular abnormalities: Cerebro-oculo-muscular syndrome. Childs Nerv Syst1989;5: 35-37.
Dobyns WB, Pagon RA, Armstrong D., et al: Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet1989;32: 195-210.
47.
Santavouri P., Pihko H., Sainio K., et al: Muscle-eye-brain disease and Walker-Walburg syndrome, letter. Am J Med Genet1990;36:371-372.
48.
Tanaka J., Mimaki T., Okada S., Fujimura H.: Changes in cerebral white matter in a case of congenital muscular dystrophy (non-Fukuyama type). Neuropediatrics1990;21:183-186.
49.
Dobyns WB, Pagon RA, Curry CJR, Greenberg F.: Response to Santavouri et al regarding Walker-Warburg syndrome and muscle-eye-brain disease, letter. Am J Med Genet1990;36: 373-374.
50.
Topaloglu H. , Yalaz K., Kale G., Ergin M.: Congenital muscular dystrophy with cerebral involvement—Report of a case of occidental type cerebromuscular dystrophy?Neuropediatrics1990;21:53-54.
51.
Yoshioka M. , Saiwai S., Kuroki S., Nigami H.: MR imaging of the brain in Fukuyama-type congenital muscular dystrophy. AJNR1991;12:63-65.
52.
Topaloglu H. , Yalaz K., Renda Y., et al: Occidental type cerebromuscular dystrophy: A report of eleven cases. J Neurol Neurosurg Psychiatr1991;54:226-229.
53.
Trevisan CP , Carollo C., Segalla P., et al: Congenital muscular dystrophy: Brain alterations in an unselected series of Western patients. J Neurol Neurosurg Psychiatry1991;54:330-334.
54.
Robertson WC Jr, Gomez MG, Reese DF, Okazaki H.: Computerized tomography in demyelinating disease of the young. Neurology1987;27:838-842.
55.
Boltshauser E., Spiess H., Isler W.: Computed tomography in neurodegenerative disorders in childhood. Neuroradiology1978 ;16:41-43.
56.
Lane B., Carroll BA, Pedley TA: Computerized cranial tomography in cerebral diseases of white matter . Neurology1978;28:534-544.
57.
Heinz ER, Drayer BP, Haenggeli CA, et al: Computed tomography in white-matter disease. Radiology1979;130:371-378.
58.
Bydder GM, Steiner RE, Young IR, et al: Clinical NMR imaging of the brain: 140 cases. AJNR1982;3:459-480.
59.
Johnson MA, Pennock JM, Bydder GM, et al: Clinical NMR imaging of the brain in children: Normal and neurologic disease. AJNR1983;4:1013-1026.
60.
Holland BA, David K., Haas KD, et al: MRI of normal brain maturation. AJNR1986;7:201-208.
61.
Stark DD, Bradley WG: Pediatric central nervous system, in: Magnetic Resonance Imaging . St Louis, CV Mosby, 1988, pp 691-692.
62.
Dubowitz V., Brooke M.: Muscle Biopsy: A Modern Approach. London, WB Saunders, 1973.
63.
Ozand PT, Gascon G., Al Aqeel A., et al: Prevalence of different types of lysosomal storage diseases in Saudi Arabia. J Inherited Metab Dis1990 ;13:849-861.
64.
Morandi L., Gussoni E., Mora M., et al: Dystrophin analysis in congenital muscular dystrophies. J Neurol Sci1990;98 (Suppl):436.
65.
Arikawa E., Arahata K., Nonaka I., Sugita H.: Immunohistochemical analysis of dystrophin in congenital muscular dystrophy . J Neurol Sci1990;98(Suppl):438.
66.
Friede RL: Gross and microscopic development of the central nervous system, in Developmental Neuropathology, 2nd ed. Berlin, Springer-Verlag, 1989, pp 2-20.
67.
Kunkel LM, Hejtmancik JF, Caskey CT, et al: Analysis of deletions in the DNA of patients with Becker and Duchenne muscular dystrophy. Nature1986;322:73-77.
