Abstract
Two brothers with motor retardation since the first months of life presented waddling ataxic-gait with lumbar lordosis, joint contractures and generalized muscle weakness. Both presented altered cerebellar tests and scanning speech. Creatine kinase, electromyography (EMG) and muscle biopsy pointed to muscular disease while CT scanning and NMR imaging showed cerebellar vermis agenesis. On this evidence we diagnosed the unusual association of vermian agenesis and congenital muscular dystrophy.
Sommario
Vengono riportati due fratelli con un ritardo motorio sin dai primi mesi di vita, andatura anserino-atassica, lordosi lombare, limitazioni articolari, debolezza muscolare diffusa, prove cerebellari alterate e parola scandita. La creatinchinasi, l'elettomiografia e la biopsia muscolare hanno evidenziato un coinvolgimento muscolare, mentre la tomografia computerizzata e la risonanza magnetica nucleare hanno mostrato una agenesia vermiana del cervelletto. Sulla base di questi dati abbiamo attribuito questa sintomatologia alla presenza simultanea di agenesia vermiana e di distrofia muscolare congenita.
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References
Boltshauser E., Isler W.:Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropediatrie 8: 57–66, 1977.
Boltshauser E., Herdan M., Dumersmith G., Isler W.:Joubert syndrome: clinical and polygraphic observation in a further case. Neuropediatrics 12: 181–191, 1981.
Brodal A. Partial defective development of the cerebellar vermis (partial agenesis) in a child. Skr. Norske Vidensk-Akod I. Mat-Nat. Kl 3: 1–40, 1945.
Curatolo P., Mercuri S., Cotroneo E.:Joubert syndrome: a case confirmed by computerized tomography. Develop. Med. Child. Neurol. 22:362–366, 1980.
De Haene A.:Agénésie partielle du vermis du cervellet a caractère familial. Acta Neurol. Belg. 55: 622–628, 1955.
Donner M., Rapola J., Somer H.:Congenital muscular dystrophy: a clinico-pathological and follow-up study of 15 patients. Neuropadiatrie 6: 239–258, 1975.
Dralle D., Schmidt-Sommerfeld E.:Zusammenhaenge zwischen atemregulation und paradoxem sclhalf bei einem patienten mit Joubert syndrom. Klin. Padiat. 191: 83–90, 1979.
Echenne B., Arthus M., Billard C., Campos-Castello J., Castel Y., Dulac O., Fontan D., Gauthier A., Kulakowski S., De Meuron G., Moore J.R., Nuto Barrera M., Pages M., Parain D., Pavone L., Ponsat G.:Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the Société de Neurologie Infantile. J. Neurol. Sc. 75: 7–22, 1986.
Egger J., Kendall B.E., Erdohazi M., Lake B.D., Wilson J., Brett E.M.:Involvement of the central nervous system in congenital muscular dystrophies. Develop. Med. Child. Neurol. 25:32–42, 1983.
Fukuyama Y., Kawazura M., Haruna H.:A peculiar form of congenital progressive muscular dystrophy. Report of fifteen cases. Pediatria Universitatis Tokyo 4: 5–8, 1960.
Gobernado J.M., Gimeno A.:Changes in cerebral white matter in 2 cases of congenital muscular dystrophy. Pediat. Radiol. 12: 201–203, 1982.
Guttmann L.:Uber einen fall von entwicklungstorung des grob-und kleinhirns mit balenenange Psychiatr-Neurol. Wischr. 31:453–455, 1929.
Hansson O., Kristensson K., Lyke E., Solylmar L., Sourander P.:Generalized myopathy and cerebral malformations possibily related to an enteroviral infection. Acta Pediat. Scand. 64: 881–885, 1975.
Joubert M., Einsering J.J., Robb J.P., Andermann F.:Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia and retardation. Neurology 19: 813–825, 1969.
Kinoshita M., Iwasaki Y., Wada F., Segawa M.:A case of congenital polymyositis. A possible pathogenesis of Fukuyama type congenital muscular dystrophy. Clin. Neurol. 11:911–916, 1980.
Lhermitte J., Ajuriaguerra J., Trotat R.P.:Oxicéphalie avec agénésie de la commissure calleuse et du vermis inférieur. Rev. Neurol. 76: 146–147, 1944.
Nogen A.G. Congenital muscle disease and abnormal findings on computerized tomography. Dev. Med. Child. Neurol. 22: 658–663, 1980.
Nonaka I., Chou S.M.:Congenital muscular dystrophy. In: Vinken P.J., Bruyn G.W. eds, Handbook of Clinical Neurology, vol. 41, cp. 2, pp. 27–50, 1969, North Holland Pub. Co. Amsterdam.
Obersteiner H.:Ein Klinhirn ohne wurm. Arb. Neurol. Inst. Univ. Wien 21:124–136, 1916.
Rossi U.:Un caso di mancanza del lobo mediano del cervelletto con presenza della fossetta occipitale media. Sperimentale 45: 518–528, 1891.
Saito K., Fukuyama Y., Ogata T., Oya A.:Experimental intrauterine infection of Akabane virus. Pathological studies of skeletal muscles and central nervous system of newborn hamsters with relevance to the Fukuyama type congenital muscular dystrophy. Brain Dev. 3:65–80, 1981.
Small R.E.:Coat's disease and muscular dystrophy. Trans. Am. Acad. Ophthalmol. Otoryngol. 72: 225–231, 1968.
Tatsuno M., Iwamoto H., Misugi N.:A case of intrauterine infection with myopathy. Brain Dev. 5: 207, 1983.
Zellweger H., Afifi A., McCormick W.F., Mergner W. Severe congenital muscular dystrophy. Amer. J. Dis. Child 114: 591–602, 1967.
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Arancio, O., Bongiovanni, L.G., Bonadonna, G. et al. Congenital muscular dystrophy and cerebellar vermis agenesis in two brothers. Ital J Neuro Sci 9, 485–489 (1988). https://doi.org/10.1007/BF02337167
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DOI: https://doi.org/10.1007/BF02337167