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.

Spagnoli, L.g., Palmieri, G., Bertini, E. (1985). Benign congenital hypotonia with uniform type 1 fibers and aspecific ultrastructural changes in the muscle: a case with esophagus involvement. ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES, 6(3), 317-321.

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

SPAGNOLI, LUIGI GIUSTO;PALMIERI, GIAMPIERO;
1985-09-01

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.
set-1985
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/08 - ANATOMIA PATOLOGICA
English
Infant; Esophagus; Gastrointestinal Motility; Humans; Muscle Hypotonia; Muscles; Microscopy, Electron; Adenosine Triphosphatases; Female
Spagnoli, L.g., Palmieri, G., Bertini, E. (1985). Benign congenital hypotonia with uniform type 1 fibers and aspecific ultrastructural changes in the muscle: a case with esophagus involvement. ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES, 6(3), 317-321.
Spagnoli, Lg; Palmieri, G; Bertini, E
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/69340
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