Abstract
We report on two brothers and an unrelated girl with congenital muscular dystrophy (CMD), brain malformation and ocular changes (strabismus, myopia, glaucoma, cataracts, retinal dystrophy). Correlations with the inherited autosomal recessive syndromes of CMD, including the Fukuyama-type CMD with CNS malformation, and the Muscle, Eye and Brain Disease published by Santavuori are discussed.
Similar content being viewed by others
References
Chijiiwa T, Nishimura M, Ushijima H, Yamana Y, Yamana T, Inomata H, Fung KCH, Kurokawa T (1982) Ocular manifestations of congenital muscular dystrophy (Fukuyama type) in two cases. Japanese Journal of Clinical Ophthalmology 36:21–25
Dubowitz V (1978) Muscle disorders in childhood Vol XVI: Major problems in clinical pediatrics. Saunders, London Philadelphia Toronto
Dubowitz V (1980) The floppy infant, 2nd edn. Spastics International Medical Publications, Heinemann, London
Egger J, Kendall BE, Erdohazi M, Lake BD, Wilson J, Brett EM (1983) Involvement of the central nervous system in congenital muscular dystrophies. Dev Med Child Neurol 25:32–42
Fukuyama Y, Osawa M (1982) Congenital muscular dystrophy: Clinico-nosological aspects. In: Ebashi S (ed) Muscular dystrophy. University of Tokyo Press, Tokyo, pp 399–424
Fukuyama Y, Osawa M, Suzuki H (1981) Congenital progressive muscular dystrophy of the Fukuyama-type-clinical, genetic and pathological considerations. Brain Dev 3:1–29
Gobernado JM, Gimeno A (1982) Changes in cerebral white matter in a case of congenital muscular dystrophy. Pediatr Radiol 12:201–203
Honda Y, Yoshioka M (1978) Ophthalmological findings of muscular dystrophies: a survey of 53 cases. J Pediatr Ophthalmol Strabismus 15:236–238
Krijgsman JB, Barth PG, Stam FC, Slooff JL, Jaspar HHJ (1980) Congenital muscular dystrophy and cerebral dysgenesis in a Dutch family. Neuropädiatrie 11:108–120
Lenard HG, Goebel HH (1980) Congenital muscular dystrophies and unstructured congenital myopathies. Brain Dev 2:119–125
McMenamin JB, Becker LE, Murphy EG (1982) Congenital muscular dystrophy: a clinico-pathologic report of 24 cases. J Pediatr 100:692–697
Nogen AG (1980) Congenital muscle disease and abnormal findings on computerized tomography. Dev Med Child Neurol 22:658–663
Petrykowski W v, Beckmann R, Böhm N, Ketelsen UP, Ropers HH, Sauer M (1982) Adrenal insufficiency, myopathic hypotonia, severe psychomotor retardation, failure to thrive, constipation and bladder ectasia in 2 brothers: adrenomyodystrophy. Helv Paediatr Acta 37:387–400
Raitta CH, Lamminen M, Santavuori P, Leisti J (1978) Ophthalmological findings in a new syndrome with muscle, eye and brain involvement. Acta Ophthalmol 56: 465–472
Santavuori P (1983) Personal communication of unpublished data
Santavuori P, Leisti J, Kruus S, Raitta CH (1978) Muscle, eye and brain disease: a new syndrome. Doc Ophthalmol Proc Series 17:393–396
Vassella F, Mumenthaler M, Rossi E, Moser H, Wiesmann U (1967) Die kongenitale Muskeldystrophie. Dtsch Zeitschr Nervenheilk 190:349–374
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Korinthenberg, R., Palm, D., Schlake, W. et al. Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two german families. Eur J Pediatr 142, 64–68 (1984). https://doi.org/10.1007/BF00442595
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00442595