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

Eloisa Tiberi, Simonetta Costa, Domenico Umberto De Rose, Domenico Marco Romeo, Guido Primiano, Simona Gaudino, Serenella Servidei, Eugenio Mercuri, Giovanni Vento

Research output: Contribution to journalArticlepeer-review

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
JournalNeurological Sciences
DOIs
Publication statusAccepted/In press - 2020

Keywords

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

ASJC Scopus subject areas

  • Dermatology
  • Clinical Neurology
  • Psychiatry and Mental health

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