TY - JOUR
T1 - Expanding the spectrum of congenital myopathies
T2 - prenatal onset with extreme hyperextension of the neck
AU - Tiberi, Eloisa
AU - Costa, Simonetta
AU - De Rose, Domenico Umberto
AU - Romeo, Domenico Marco
AU - Primiano, Guido
AU - Gaudino, Simona
AU - Servidei, Serenella
AU - Mercuri, Eugenio
AU - Vento, Giovanni
N1 - Publisher Copyright:
© 2020, Fondazione Società Italiana di Neurologia.
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020
Y1 - 2020
N2 - We describe the case of a male newborn presenting with a prenatal diagnosis of persistent hyperextension of the fetal neck and severe hypotonia and respiratory insufficiency at birth. Facial weakness, increased serum creatine kinase levels, and abnormal feeding, together with other signs, such as severe contractures, also classically associated with congenital myopathies prompted to perform a muscle biopsy showing internal rods suggestive of a possible nemaline myopathy. These findings suggest that a careful neurological examination should be performed in infants with persistent hyperextension of the fetal neck to exclude weakness and a possible underlying muscle disorder.
AB - We describe the case of a male newborn presenting with a prenatal diagnosis of persistent hyperextension of the fetal neck and severe hypotonia and respiratory insufficiency at birth. Facial weakness, increased serum creatine kinase levels, and abnormal feeding, together with other signs, such as severe contractures, also classically associated with congenital myopathies prompted to perform a muscle biopsy showing internal rods suggestive of a possible nemaline myopathy. These findings suggest that a careful neurological examination should be performed in infants with persistent hyperextension of the fetal neck to exclude weakness and a possible underlying muscle disorder.
KW - Nemaline myopathy
KW - Neonatal hypotonia
KW - Persistent hyperextension of the fetal neck
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U2 - 10.1007/s10072-020-04937-x
DO - 10.1007/s10072-020-04937-x
M3 - Article
AN - SCOPUS:85096622492
JO - Neurological Sciences
JF - Neurological Sciences
SN - 1590-1874
ER -