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

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

Research output: Contribution to journalArticle

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.
Original languageEnglish
Pages (from-to)1549-1553
Number of pages5
JournalNeurological Sciences
DOIs
Publication statusPublished - 2021

Keywords

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

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