Expanding the spectrum of congenital myopathies: prenatal onset with extreme hyperextension of the neck

Domenico Marco Romeo, Serenella Servidei, Eugenio Maria Mercuri, Giovanni Vento, Eloisa Tiberi, Simonetta Costa, Guido Alessandro Primiano, Simona Gaudino, Rose D. U. De

Risultato della ricerca: Contributo in rivistaArticolo in rivista

Abstract

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.
Lingua originaleEnglish
pagine (da-a)1549-1553
Numero di pagine5
RivistaNeurological Sciences
DOI
Stato di pubblicazionePubblicato - 2021

Keywords

  • Nemaline myopathy
  • Persistent hyperextension of the fetal neck
  • Neonatal hypotonia

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