The Italian Journal of Neurological Sciences

, Volume 6, Issue 3, pp 317–321 | Cite as

Benign congenital hypotonia with uniform type 1 fibers and aspecific ultrastructural changes in the muscle: a case with esophagus involvement

  • Spagnoli L. G. 
  • Palmieri G. 
  • Bertini E. 
Original Articles

Abstract

We report the case of a child with congenital neuromuscular disease characterized by neonatal onset of symptoms, a floppy syndrome with marked weakness of facial muscles, palsy of the velum pendulum and hypomotility of the esophagus. EMG was inconclusive. Serum enzyme levels were within the normal range. Muscle biopsy specimen showed uniform type 1 fibers, smallness of the occasionally observed type 2 fibers and slight ultrastructural changes in many fibers. On the basis of the clinical and morphological features we have included the present case among the group of non-progressive congenital neuromuscular diseases.

Key-Words

Congenital myopathies muscular hypotonia uniform type 1 fiber 

Sommario

Presentiamo una bambina affetta da una malattia neuromuscolare congenita caratterizzata da inizio neonatale, sindrome ipotonica con marcata debolezza dei muscoli facciali, paralisi del velo pendulo e ipomotilità dell'esofago. L'EMG era inconclusivo e gli enzimi serici muscolari apparivano nei limiti della norma. La biopsia muscolare ha mostrato fascicoli uniformemente costituiti da fibre del tipo 1 con rare fibre del tipo 2 marcatamente atrofiche e lievi alterazioni ultrastruturali in molte fibre. Questo caso rappresenta un'altra variante delle malattie neuromuscolari congenite con evoluzione non progressiva.

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Copyright information

© Masson Italia Periodici S.r.l. 1985

Authors and Affiliations

  • Spagnoli L. G. 
    • 1
  • Palmieri G. 
    • 1
  • Bertini E. 
    • 2
  1. 1.Cattedra di anatomia patologicaII Università di RomaTor Vergata
  2. 2.Dipartimento di neuropediatriaOspedale Bambino GesùRoma

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