Expanding the spectrum of congenital myopathies: prenatal onset with extreme hyperextension of the neck
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Expanding the spectrum of congenital myopathies: prenatal onset with extreme hyperextension of the neck Eloisa Tiberi 1 & Simonetta Costa 1 & Domenico Umberto De Rose 1,2 & Domenico Marco Romeo 3,4 & Guido Primiano 5 & Simona Gaudino 6 & Serenella Servidei 4,5 & Eugenio Mercuri 3,4 & Giovanni Vento 1,4 Received: 16 August 2020 / Accepted: 23 November 2020 # Fondazione Società Italiana di Neurologia 2020
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. Keywords Nemaline myopathy . Neonatal hypotonia . Persistent hyperextension of the fetal neck
Background Persistent hyperextension of the fetal neck has been reported in several cases over the years [1]. Its etiology is still unclear as in the majority reported cases, no definite etiology can be identified. We report the clinical course and management of a newborn, presenting with a prenatal diagnosis of persistent
* Domenico Umberto De Rose [email protected] 1
Neonatology Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
2
Neonatal Intensive Care Unit, Medical and Surgical Department of Fetus, Newborn and Infant, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy
3
Pediatric Neurology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
4
Università Cattolica del Sacro Cuore, Rome, Italy
5
Neurophysiopathology Unit, Department of Aging, Neurological, Orthopedic and Head and Neck Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
6
Radiology Unit, Department of Diagnostic Imaging, Radiotherapy, Oncology and Hematology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
hyperextension of the neck, who was found to have nemaline myopathy on muscle biopsy.
Clinical report The index case is a male infant, born at 36+6 weeks of gestational age to a 35-year-old woman (gravida 2, para 1). Pregnancy was uneventful until 30 weeks gestation when prenatal ultrasound showed a persistent hyperextension of the neck. Fetal magnetic resonance imaging (MRI) confirmed cervical hyperlordosis and revealed a right thoracolumbar scoliosis; no vertebral or spinal cord anomalies were found. Because of persistent hyperextension of the neck in association with breech presentation, the elective cesarea
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